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Entry
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- *276903 - MYOSIN VIIA; MYO7A
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*276903</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/276903">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000137474;t=ENST00000409709" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4647" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=276903" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000137474;t=ENST00000409709" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000260,NM_001127180,NM_001369365,XM_011545044,XM_011545046,XM_011545050,XM_017017778,XM_017017779,XM_017017780,XM_017017781,XM_017017782,XM_017017783,XM_017017784,XM_017017785,XM_017017786,XM_017017787,XM_017017788,XM_047426970,XM_047426971,XM_047426972,XM_047426973,XM_047426974,XR_001747888,XR_001747889" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000260" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=276903" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02043&isoform_id=02043_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/MYO7A" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/531139,1019445,1235670,1613788,1613790,1894902,62088838,119595424,119595425,119595426,119595427,119595428,119595429,166788574,189083798,189083802,460018219,767968213,767968230,1034573806,1034573808,1034573810,1034573812,1034573815,1034573817,1034573819,1034573821,1034573823,1034573825,1034573833,1034573835,1609037795,2217282962,2217282966,2217282969,2217282971,2217282973,2462525353,2462525355,2462525357,2462525359,2462525361,2462525363,2462525365,2462525367,2462525369,2462525371,2462525373,2462525375,2462525377,2462525379,2462525381,2462525383,2462525385,2462525389,2462525391" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q13402" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4647" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000137474;t=ENST00000409709" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO7A" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MYO7A" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4647" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/MYO7A" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4647" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4647" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000409709.9&hgg_start=77128246&hgg_end=77215241&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7606" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/myo7a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=276903[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=276903[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/MYO7A/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000137474" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=MYO7A" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=MYO7A" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MYO7A" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://webh01.ua.ac.be/hhh/" title="Hereditary Hearing Loss Homepage" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Hereditary Hearing Loss Ho…</a></div><div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/MYO7A" title="Retinal and hearing impairment genetic mutation database MYO7A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Retinal and hearing impair…</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/myomut.htm" title="Mutations of the Myosin VIIa Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Myosin VI…</a></div><div style="margin-left: 0.5em;"><a href="http://www.umd.be/MYO7A/" title="The UMD MYO7A mutations database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">The UMD MYO7A mutations da…</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=MYO7A" title="CCHMC Molecular Genetics Laboratory Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC Molecular Genetics L…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MYO7A&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA31411" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7606" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000317.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104510" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MYO7A#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:104510" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4647/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002148/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4647" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002039;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-020709-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4647" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=MYO7A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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276903
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MYOSIN VIIA; MYO7A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MYO7A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYO7A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/11/775?start=-3&limit=10&highlight=775">11q13.5</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:77128246-77215241&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:77,128,246-77,215,241</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=601317,600060,276900" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
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View Clinical Synopses
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</a>
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</span>
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</th>
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<th>
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11q13.5
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Deafness, autosomal dominant 11
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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Deafness, autosomal recessive 2
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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Usher syndrome, type 1B
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<a href="/entry/276900"> 276900 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/276903" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/276903" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>The MYO7A gene encodes a protein classified as an unconventional myosin. Unconventional myosins are motor molecules with structurally conserved heads that move along actin filaments. Their highly divergent tails are presumed to be tethered to different macromolecular structures that move relative to actin filaments, thus enabling them to transport cargo (<a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Cloning and Expression</strong>
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<p>By positional cloning, <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified the MYO7A gene within the candidate gene region for Usher syndrome type IB (USH1B; see <a href="/entry/276900">276900</a>) on chromosome 11q. Clones corresponding to the gene were isolated from a retinal cDNA library. The deduced protein encoded most of the motor head of myosin and was 95% identical to the mouse protein. RT-PCR products were detected in human kidney, liver, and retina, but not in brain or lymphocytes transformed by Epstein-Barr virus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M., Petit, C. <strong>Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.</strong> Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622919</a>] [<a href="https://doi.org/10.1073/pnas.93.8.3232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8622919">Weil et al. (1996)</a> presented the cDNA sequence of myosin VIIA which predicted a 2,215-amino acid protein with a typical unconventional myosin structure. The protein was expected to dimerize into a 2-headed molecule. The C terminus of its tail shares homology with the membrane-binding domain of the band 4.1 protein superfamily (see <a href="/entry/130500">130500</a>). Several alternatively spliced isoforms were identified. In situ hybridization analysis in human embryos demonstrated MYO7A expression in the retinal pigment epithelium and photoreceptor cells, as well as in cochlear and vestibular neuroepithelia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., Brown, S. D. M. <strong>A type VII myosin encoded by the mouse deafness gene shaker-1.</strong> Nature 374: 62-64, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870172</a>] [<a href="https://doi.org/10.1038/374062a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870172">Gibson et al. (1995)</a> identified the mouse Myo7a gene as being causative for the shaker-1 (sh1) phenotype, which is characterized by cochlear and vestibular dysfunction, but no retinal abnormalities. The authors identified the gene using positional cloning based on the fact that the olfactory marker protein gene (Omp) is very tightly linked to the mouse sh1 mutation on mouse chromosome 7. Among the 9 unique exon-trap products found in a YAC from this region, there was 1 that was used to isolate a 4.6-kb clone from a mouse inner-ear cDNA library. Sequence analysis demonstrated that this was the gene encoding myosin VIIA. The findings of both <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> and <a href="#14" class="mim-tip-reference" title="Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., Brown, S. D. M. <strong>A type VII myosin encoded by the mouse deafness gene shaker-1.</strong> Nature 374: 62-64, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870172</a>] [<a href="https://doi.org/10.1038/374062a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870172">Gibson et al. (1995)</a> indicated that USH1B and 'shaker' are primary cytoskeletal protein defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7870172+7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Chen, Z.-Y., Hasson, T., Kelley, P. M., Schwender, B. J., Schwartz, M. F., Ramakrishnan, M., Kimberling, W. J., Mooseker, M. S., Corey, D. P. <strong>Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.</strong> Genomics 36: 440-448, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884267</a>] [<a href="https://doi.org/10.1006/geno.1996.0489" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8884267">Chen et al. (1996)</a> cloned cDNAs encoding a previously unexplored portion of the MYO7A gene. Two transcripts were found, one encoding the predicted 250-kD protein and another encoding a shorter form. Both transcripts were found in highest abundance in testis, although the shorter one was much less abundant. Both were detected in lymphocytes by RT-PCR. The myosin tail encoded by the long transcript includes a long repeat of approximately 460 amino acids. Each repeat contains a novel 'MyTH4' domain similar to domains in 3 other myosins, and a domain similar to the membrane-associated portion of talin (<a href="/entry/186745">186745</a>) and other members of the band 4.1 family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8884267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Kelley, P. M., Weston, M. D., Chen, Z.-Y., Orten, D. J., Hasson, T., Overbeck, L. D., Pinnt, J., Talmadge, C. B., Ing, P., Mooseker, M. S., Corey, D., Sumegi, J., Kimberling, W. J. <strong>The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).</strong> Genomics 40: 73-79, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9070921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9070921</a>] [<a href="https://doi.org/10.1006/geno.1996.4545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9070921">Kelley et al. (1997)</a> found that the largest mRNA transcript is 7.4 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9070921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#32" class="mim-tip-reference" title="Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M., Petit, C. <strong>Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.</strong> Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622919</a>] [<a href="https://doi.org/10.1073/pnas.93.8.3232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8622919">Weil et al. (1996)</a> determined that the MYO7A gene contains 48 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Kelley, P. M., Weston, M. D., Chen, Z.-Y., Orten, D. J., Hasson, T., Overbeck, L. D., Pinnt, J., Talmadge, C. B., Ing, P., Mooseker, M. S., Corey, D., Sumegi, J., Kimberling, W. J. <strong>The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).</strong> Genomics 40: 73-79, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9070921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9070921</a>] [<a href="https://doi.org/10.1006/geno.1996.4545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9070921">Kelley et al. (1997)</a> reported that the MYO7A gene spans 120 kb and has 49 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9070921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By in situ hybridization analysis in human embryos, <a href="#32" class="mim-tip-reference" title="Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M., Petit, C. <strong>Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.</strong> Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622919</a>] [<a href="https://doi.org/10.1073/pnas.93.8.3232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8622919">Weil et al. (1996)</a> demonstrated that the MYO7A was expressed in the pigment epithelium and the photoreceptor cells of the retina, indicating to the authors that both cell types may be involved in the retinal degenerative process in Usher syndrome type IB. The gene was also expressed in the human embryonic cochlear and vestibular neuroepithelia. <a href="#32" class="mim-tip-reference" title="Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M., Petit, C. <strong>Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.</strong> Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622919</a>] [<a href="https://doi.org/10.1073/pnas.93.8.3232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8622919">Weil et al. (1996)</a> suggested that deafness and vestibular dysfunction in Usher syndrome patients results from a defect in the morphogenesis of the inner ear sensory cell stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="El-Amraoui, A., Sahly, I., Picaud, S., Sahel. J., Abitbol, M., Petit, C. <strong>Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.</strong> Hum. Molec. Genet. 5: 1171-1178, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842737</a>] [<a href="https://doi.org/10.1093/hmg/5.8.1171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8842737">El-Amraoui et al. (1996)</a> found that MYO7A was expressed in human embryo retinal pigment epithelium at 6, 9 and 10 weeks. From 18 to 19 weeks on and in the adult, MYO7A was present in both the pigment epithelium and the photoreceptor cells. MYO7A was mainly present in the inner segments, the base of the outer segments, and the synaptic endings of photoreceptor cells. Myo7a was not expressed in mouse photoreceptor cells, but was expressed in pigment epithelium cells. MYO7A was also expressed in cochlear hair cells during mouse embryonic development and in sensory hair cells in developing human otic vesicle, which correlated with the vestibular and cochlear dysfunctions resulting in balance problems and hearing impairment observed in both Usher patients and shaker-1 mouse mutants. The findings also indicated that the retinal abnormalities in USH1B result from a primary rod and cone defect, and that the shaker-1 mouse phenotype has no retinal defect since Myo7a is absent from the photoreceptor cells in rodents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Boeda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K. R., Shorte, S., Reiners, J., Houdusse, A., Legrain, P., Wolfrum, U., Richardson, G., Petit, C. <strong>Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.</strong> EMBO J. 21: 6689-6699, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12485990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12485990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12485990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/cdf689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12485990">Boeda et al. (2002)</a> noted that 3 distinct genetic forms of Usher syndrome, USH1B, USH1D (<a href="/entry/601607">601607</a>), and USH1C (<a href="/entry/276904">276904</a>), are caused by defects in the MYO7A, CDH23 (<a href="/entry/605516">605516</a>), and harmonin (USH1C; <a href="/entry/605242">605242</a>) genes, respectively. They observed severely disorganized hair bundles in shaker-1 mice, and immunohistochemical analysis of differentiating hair cells indicated that Cdh23 was distributed normally in these mice, but harmonin b was not. Using human and mouse cDNA constructs and cells, they provided evidence that harmonin b anchors CDH23 to the stereocilia microfilaments and interacts directly with MYO7A, which conveys harmonin b along the actin core of the developing stereocilia. <a href="#6" class="mim-tip-reference" title="Boeda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K. R., Shorte, S., Reiners, J., Houdusse, A., Legrain, P., Wolfrum, U., Richardson, G., Petit, C. <strong>Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.</strong> EMBO J. 21: 6689-6699, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12485990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12485990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12485990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/cdf689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12485990">Boeda et al. (2002)</a> proposed that the shaping of the hair bundle relies on a functional unit composed of MYO7A, harmonin b, and CDH23 and that the interaction of these proteins ensures the cohesion of the stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12485990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bahloul, A., Michel, V., Hardelin, J.-P., Nouaille, S., Hoos, S., Houdusse, A., England, P., Petit, C. <strong>Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, for a ternary complex and interact with membrane phospholipids.</strong> Hum. Molec. Genet. 19: 3557-3565, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20639393[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20639393">Bahloul et al. (2010)</a> found that both isoforms of mouse Cdh23 bound directly to the harmonin A isoform and to the tail of myosin-7a. The 3 proteins formed a complex that interacted with phosphatidylinositol 4,5-bisphosphate in synthetic liposomes. Knockout of Cdh23 in mice resulted in loss of harmonin from the apex of hair bundles in the organ of Corti and caused redistribution of a weakened myosin-7a signal along stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#34" class="mim-tip-reference" title="Wu, L., Pan, L., Wei, Z., Zhang, M. <strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong> Science 331: 757-760, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311020</a>] [<a href="https://doi.org/10.1126/science.1198848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311020">Wu et al. (2011)</a> reported the crystal structure of the MyTH4-FERM domains of MYO7A in complex with the central domain (CEN) of SANS (<a href="/entry/607696">607696</a>) at 2.8-angstrom resolution. The MyTH4 and FERM domains form an integral structural and functional supramodule binding to 2 highly conserved segments (CEN1 and 2) of SANS. <a href="#34" class="mim-tip-reference" title="Wu, L., Pan, L., Wei, Z., Zhang, M. <strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong> Science 331: 757-760, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311020</a>] [<a href="https://doi.org/10.1126/science.1198848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21311020">Wu et al. (2011)</a> concluded that the MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21311020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Usher Syndrome Type IB</em></strong></p><p>
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<a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> noted that the phenotype of Usher syndrome reflects cytoskeletal abnormalities, including abnormal organization of microtubules in the axoneme of photoreceptor cells (connecting cilium), nasal cilia cells, and sperm cells, as well as widespread degeneration of the organ of Corti. In affected members of 5 unrelated families with Usher syndrome IB, <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified 5 different mutations in the MYO7A gene (<a href="#0001">276903.0001</a>-<a href="#0005">276903.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 189 patients with Usher syndrome type I, <a href="#33" class="mim-tip-reference" title="Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J. <strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong> Am. J. Hum. Genet. 59: 1074-1083, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900236</a>]" pmid="8900236">Weston et al. (1996)</a> identified 13 different mutations within the N-terminal coding portion of the motor domain of MYO7A. The mutations segregated with the disease in 20 families. Two mutations, R212H (<a href="#0004">276903.0004</a>) and R212C (<a href="#0005">276903.0005</a>), accounted for the greatest percentage of observed mutant alleles (31% or 8/23 alleles). Three patients were homozygotes or compound heterozygotes for mutant alleles. All the other USH1B mutations observed were present in heterozygous state, and it was presumed that the mutation on the other allele was present in an unscreened region of the gene. None of the mutations reported by <a href="#33" class="mim-tip-reference" title="Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J. <strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong> Am. J. Hum. Genet. 59: 1074-1083, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900236</a>]" pmid="8900236">Weston et al. (1996)</a> were observed in 96 unrelated control samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Levy, G., Levi-Acobas, F., Blanchard, S., Gerber, S., Larget-Piet, D., Chenal, V., Liu, X.-Z., Newton, V., Steel, K. P., Brown, S. D. M., Munnich, A., Kaplan, J., Petit, C., Weil, D. <strong>Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.</strong> Hum. Molec. Genet. 6: 111-116, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9002678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9002678</a>] [<a href="https://doi.org/10.1093/hmg/6.1.111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9002678">Levy et al. (1997)</a> designed primers covering the complete MYO7A coding sequence, as well as the 3-prime noncoding sequence, allowing direct sequence analysis of 48 coding exons and flanking splice sites in 7 patients with USH1B. They identified 4 novel mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9002678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B. <strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong> Am. J. Hum. Genet. 61: 813-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382091</a>] [<a href="https://doi.org/10.1086/514899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382091">Adato et al. (1997)</a> screened USH1B families from 12 different ethnic groups for the presence of mutations in all 49 exons of the MYO7A gene. In 15 families, MYO7A mutations were detected, verifying their classification as USH1B. All of these mutations were novel, including 3 missense mutations, 1 premature stop codon, 2 splicing mutations, 1 frameshift, and 1 deletion of more than 2 kb comprising exons 47 and 48, a part of exon 49, and the introns between them. Three mutations were shared by more than 1 family, consistent with haplotype similarities. Altogether, 16 USH1B haplotypes were observed in the 15 families; most haplotypes were population specific. None of the 20 known USH1B mutations reported previously in other populations of the world were identified in these families, which although studied in Tel Aviv, were derived from many areas of the world. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z. <strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong> Hum. Genet. 116: 292-299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>] [<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15660226">Ouyang et al. (2005)</a> carried out a systematic mutation screening of the genes known to cause type I Usher syndrome in patients from the U.S. and U.K. They identified a total of 27 different mutations. Approximately 35 to 39% of the observed mutations involved the USH1B (MYO7A) and USH1D (CDH23; <a href="/entry/605516">605516</a>) genes. Two of the 12 MYO7A mutations they found, R666X (<a href="#0016">276903.0016</a>) and IVS27-1G-C (<a href="#0017">276903.0017</a>), accounted for 38% of the mutations found at that locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15660226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B. <strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong> Hum. Mutat. 29: 502-511, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18181211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18181211</a>] [<a href="https://doi.org/10.1002/humu.20677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18181211">Riazuddin et al. (2008)</a> identified 17 homozygous mutant alleles in the MYO7A gene, including 14 novel mutations, in affected members of 23 consanguineous Pakistani families with Usher syndrome IB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18181211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Nonsyndromic Deafness</em></strong></p><p>
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<a href="#23" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M. <strong>Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.</strong> Nature Genet. 16: 188-190, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171832</a>] [<a href="https://doi.org/10.1038/ng0697-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171832">Liu et al. (1997)</a> found mutations in the MYO7A gene in 2 of 8 families with autosomal recessive nonsyndromic deafness (DFNB2; <a href="/entry/600060">600060</a>) from the Sichuan province of China. In 1 family, 3 affected sibs were homozygous for an R244P mutation (<a href="#0007">276903.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese family with autosomal dominant nonsyndromic hearing loss mapping to 11q (DFNA11; <a href="/entry/601317">601317</a>), <a href="#24" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P., Brown, S. D. M. <strong>Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. (Letter)</strong> Nature Genet. 17: 268-269, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354784</a>] [<a href="https://doi.org/10.1038/ng1197-268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354784">Liu et al. (1997)</a> identified a heterozygous mutation in the MYO7A gene (<a href="#0011">276903.0011</a>). All affected members of the family had postlingual bilateral sensorineural hearing loss with subsequent gradual progression. <a href="#25" class="mim-tip-reference" title="Luijendijk, M. W. J., van Wijk, E., Bischoff, A. M. L. C., Krieger, E., Huygen, P. L. M., Pennings, R. J. E., Brunner, H. G., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H. <strong>Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).</strong> Hum. Genet. 115: 149-156, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15221449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15221449</a>] [<a href="https://doi.org/10.1007/s00439-004-1137-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15221449">Luijendijk et al. (2004)</a> identified a heterozygous mutation in the MYO7A gene (<a href="#0015">276903.0015</a>) in affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9354784+15221449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a consanguineous Pakistani family with autosomal recessive DFNB2, <a href="#27" class="mim-tip-reference" title="Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B. <strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong> Hum. Mutat. 29: 502-511, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18181211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18181211</a>] [<a href="https://doi.org/10.1002/humu.20677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18181211">Riazuddin et al. (2008)</a> identified a homozygous mutation in the MYO7A gene (<a href="#0018">276903.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18181211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 sibs, born of consanguineous Iranian parents, with DFNB2, <a href="#16" class="mim-tip-reference" title="Hildebrand, M. S., Thorne, N. P., Bromhead, C. J., Kahrizi, K., Webster, J. A., Fattahi, Z., Bataejad, M., Kimberling, W. J., Stephan, D., Najmabadi, H., Bahlo, M., Smith, R. J. H. <strong>Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.</strong> Clin. Genet. 77: 563-571, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20132242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20132242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20132242[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01344.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20132242">Hildebrand et al. (2010)</a> identified a homozygous mutation in the MYO7A gene (R395H; <a href="#0021">276903.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20132242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In 4 affected members from a consanguineous Saudi Arabian family with Leber congenital amaurosis (LCA; see <a href="/entry/204000">204000</a>), <a href="#29" class="mim-tip-reference" title="Wang, X., Wang, H., Cao, M., Li, Z., Chen, X., Patenia, C., Gore, A., Abboud, E. B., Al-Rajhi, A. A., Lewis, R. A., Lupski, J. R., Mardon, G., Zhang, K., Muzny, D., Gibbs, R. A., Chen, R. <strong>Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.</strong> Hum. Mutat. 32: 1450-1459, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901789</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21901789[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21901789">Wang et al. (2011)</a> identified homozygosity for a missense mutation in the motor domain of the MYO7A gene (578C-T; T193I) that segregated with disease in the family and was not found in 200 controls or the dbSNP or 1000 Genomes Project databases. All 4 patients had poor vision since birth, with nystagmus, neuroepithelial atrophy, and nonrecordable electroretinograms. The authors stated that patients in this family did not exhibit hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21901789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Digenic inheritance of nonsyndromic deafness had been presented by <a href="#5" class="mim-tip-reference" title="Balciuniene, J., Dahl, N., Borg, E., Samuelsson, E., Koisti, M. J., Pettersson, U., Jazin, E. E. <strong>Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.</strong> Am. J. Hum. Genet. 63: 786-793, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9718342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9718342</a>] [<a href="https://doi.org/10.1086/302012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9718342">Balciuniene et al. (1998)</a> in the case of a Swedish family whose affected members were carriers of DFNA2 (<a href="/entry/600101">600101</a>) and/or DFNA12 (<a href="/entry/601543">601543</a>), both autosomal dominant disorders. Increased severity of deafness was found in family members who were carriers of both alleles. Digenic inheritance was also suggested as one of the possible explanations in the case of DFNB15 (601869). <a href="#8" class="mim-tip-reference" title="Chen, A., Wayne, S., Bell, A., Ramesh, A., Srisailapathy, C. R., Scott, D. A., Sheffield, V. C., Van Hauwe, P., Zbar, R. I., Ashley, J., Lovett, M., Van Camp, G., Smith, R. J. <strong>New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.</strong> Am. J. Med. Genet. 71: 467-471, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9286457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9286457</a>]" pmid="9286457">Chen et al. (1997)</a> observed this autosomal recessive nonsyndromic deafness in a family of Indian origin and found that it was linked to 2 loci, one on 3q and one on 19p. <a href="#1" class="mim-tip-reference" title="Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B. <strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong> Am. J. Hum. Genet. 65: 261-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>] [<a href="https://doi.org/10.1086/302438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364543">Adato et al. (1999)</a> found this result interesting in relation to their work because one of the regions of linkage, 3q21.3-q25.2, included the USH3 locus, and the other, 19p13.3-p13.1, included among others the MYO1F gene (<a href="/entry/601480">601480</a>), which codes for another member of the unconventional myosin group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10364543+9718342+9286457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Shaker-1 (sh1) homozygous mice show hyperactivity, head-tossing and circling due to vestibular dysfunction, as well as neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti. <a href="#14" class="mim-tip-reference" title="Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., Brown, S. D. M. <strong>A type VII myosin encoded by the mouse deafness gene shaker-1.</strong> Nature 374: 62-64, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870172</a>] [<a href="https://doi.org/10.1038/374062a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870172">Gibson et al. (1995)</a> described 3 different mutations in the Myo7a gene that segregated with the disorder in mice. All the mutations were located in the region encoding the myosin head. The sh1 phenotype differs from that of Usher syndrome in humans by the absence of retinal degeneration. <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> noted that one form of human neurosensory recessive deafness without retinal dystrophy, DFNB2, maps to 11q in the same general region as USH1B and may represent the human equivalent of sh1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7870172+7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Liu, X., Ondek, B., Williams, D. S. <strong>Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. (Letter)</strong> Nature Genet. 19: 117-118, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9620764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9620764</a>] [<a href="https://doi.org/10.1038/470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9620764">Liu et al. (1998)</a> demonstrated that mutant Myo7a causes defective distribution of melanosomes in the retinal pigment epithelium (RPE) of shaker-1 mice. Mutant Myo7a was targeted correctly in the RPE, but localization of melanosomes in the apical processes of these epithelial cells depended on proper Myo7A function. Thus, in the RPE, Myo7a has a function similar to that of myosin V (MYPO5A; <a href="/entry/160777">160777</a>), another large unconventional myosin that is necessary for melanosome localization in the dendrites of melanocytes. Given the putative motor properties of Myo7a, it was plausible that melanosomes may be transported along the RPE apical processes as cargo of the molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9620764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The zebrafish (Danio rerio) possesses 2 mechanosensory organs believed to be homologous to each other: the inner ear, which is responsible for the senses of audition and equilibrium, and the lateral line organ, which is involved in the detection of water movements. Eight zebrafish circler or auditory/vestibular mutants appear to have defects specific to sensory hair cell function. The circler genes may therefore encode components of the mechanotransduction apparatus and/or be the orthologous counterparts of the genes underlying human hereditary deafness. <a href="#12" class="mim-tip-reference" title="Ernest, S., Rauch, G.-J., Haffter, P., Geisler, R., Petit, C., Nicolson, T. <strong>Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.</strong> Hum. Molec. Genet. 9: 2189-2196, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958658</a>] [<a href="https://doi.org/10.1093/hmg/9.14.2189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958658">Ernest et al. (2000)</a> determined that the phenotype of the circler mutant, mariner, is due to mutations in the zebrafish Myo7a homolog. Mariner sensory hair cells displayed morphologic and functional defects similar to those present in mouse shaker-1 hair cells. The findings demonstrated the striking conservation of the function of myosin VIIA throughout vertebrate evolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studies of mouse photoreceptor cells with mutant Myo7a, <a href="#22" class="mim-tip-reference" title="Liu, X., Udovichenko, I. P., Brown, S. D. M., Steel, K. P., Williams, D. S. <strong>Myosin VIIa participates in opsin transport through the photoreceptor cilium.</strong> J. Neurosci. 19: 6267-6274, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10414956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10414956</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.19-15-06267.1999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10414956">Liu et al. (1999)</a> presented evidence that myosin VIIa functions in the connecting cilium of photoreceptor cells and participates in the transport of opsin (RHO; <a href="/entry/180380">180380</a>). The findings provided the first direct evidence that opsin travels along the connecting cilium en route to the outer segment and demonstrated that myosin may function in these cilium. Accordingly, abnormal opsin transport may contribute to blindness in Usher syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10414956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Boeda, B., Weil, D., Petit, C. <strong>A specific promoter of the sensory cells of the inner ear defined by transgenesis.</strong> Hum. Molec. Genet. 10: 1581-1589, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468276</a>] [<a href="https://doi.org/10.1093/hmg/10.15.1581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11468276">Boeda et al. (2001)</a> generated lines of transgenic mice expressing the green fluorescent protein (GFP) reporter gene under the control of several 5-prime-truncated versions of the Myo7a/MYO7A promoter region and intron 1. They obtained transgenic mice with a GFP expression restricted to the hair cells of the inner ear, cochlea, and vestibule. Successive deletions of the promoter defined a minimal sequence of 118 bp that was sufficient, in the presence of intron 1, to target the transgene expression to hair cells. In addition, the deletion of intron 1 from the transgenes abolished hair cell expression, thus indicating the presence of a strong enhancer in the intron. The authors reported that regulatory sequences were sufficient to target the expression of a gene exclusively in sensory cells of the inner ear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11468276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To elucidate the role of myosin VIIa in the retina and the basis of photoreceptor degeneration in USH1B patients, <a href="#13" class="mim-tip-reference" title="Gibbs, D., Kitamoto, J., Williams, D. S. <strong>Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.</strong> Proc. Nat. Acad. Sci. 100: 6481-6486, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12743369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1130432100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743369">Gibbs et al. (2003)</a> studied mutant phenotypes in the retinas of shaker-1 mice. They reported that the phagocytosis of photoreceptor outer segment discs by the RPE was abnormal in Myo7a-null mice. Both in vivo and in primary cultures of RPE cells, the transport of ingested discs out of the apical region was inhibited in the absence of Myo7a. The results with the cultured RPE cells were the same, irrespective of whether the discs came from wildtype or mutant mice, which demonstrated that the RPE is the source of this defect. The inhibited transport seemed to delay phagosome-lysosome fusion, as the degradation of ingested discs was slower in mutant RPE. Moreover, fewer packets of disc membranes were ingested in vivo, possibly because retarded removal of phagosomes from the apical processes inhibited the ingestion of additional disc membranes. <a href="#13" class="mim-tip-reference" title="Gibbs, D., Kitamoto, J., Williams, D. S. <strong>Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.</strong> Proc. Nat. Acad. Sci. 100: 6481-6486, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12743369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1130432100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743369">Gibbs et al. (2003)</a> concluded that myosin VIIa is required for the normal processing of ingested disc membranes in the RPE, primarily in the basal transport of phagosomes into the cell body where they then fuse with lysosomes. Because the phagocytosis of photoreceptor discs by the RPE had been shown to be critical for photoreceptor cell viability, the authors suggested that this defect likely contributes to the progressive blindness in USH1B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12743369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The MYO15 (<a href="/entry/602666">602666</a>), MYO6 (<a href="/entry/600970">600970</a>), and MYO7A genes are essential for hearing in both humans and mice. Despite widespread expression, homozygosity for mutations in these genes only results in auditory or ocular dysfunction. The pirouette (pi) mouse exhibits deafness and inner ear pathology resembling that of Myo15 mutant mice. <a href="#18" class="mim-tip-reference" title="Karolyi, I. J., Probst, F. J., Beyer, L., Odeh, H., Dootz, G., Cha, K. B., Martin, D. M., Avraham, K. B., Kohrman, D., Dolan, D. F., Raphael, Y., Camper, S. A. <strong>Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.</strong> Hum. Molec. Genet. 12: 2797-2805, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966030</a>] [<a href="https://doi.org/10.1093/hmg/ddg308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966030">Karolyi et al. (2003)</a> crossed Myo15 mutant mice to Myo6, Myo7a, and pi mutant mouse strains. Viable double-mutant homozygotes were obtained from each cross, and hearing in doubly heterozygous mice was similar to singly heterozygous mice. All critical cell types of the cochlear sensory epithelium were present in double-mutant mice, and cochlear stereocilia exhibited a superimposition of single-mutant phenotypes. <a href="#18" class="mim-tip-reference" title="Karolyi, I. J., Probst, F. J., Beyer, L., Odeh, H., Dootz, G., Cha, K. B., Martin, D. M., Avraham, K. B., Kohrman, D., Dolan, D. F., Raphael, Y., Camper, S. A. <strong>Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.</strong> Hum. Molec. Genet. 12: 2797-2805, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966030</a>] [<a href="https://doi.org/10.1093/hmg/ddg308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966030">Karolyi et al. (2003)</a> suggested that the function of Myo15 is distinct from that of Myo6, Myo7a, or pi in development and/or maintenance of stereocilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=276903[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121965079 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965079;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121965079?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified compound heterozygosity for 2 mutations in the MYO7A gene: a 163C-T transition in exon 1 resulting in an arg150-to-ter (R150X) substitution, and a 6-bp deletion (<a href="#0003">276903.0003</a>). The R150X protein was predicted to be truncated before the ATP-binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified a heterozygous C-to-T transition in exon 3 of the MYO7A gene, resulting in a gln234-to-ter (Q234X) substitution and truncation of the protein before the actin-binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 unrelated families with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified the same in-frame 6-bp deletion (GACACT) in exon 3 of the MYO7A gene at codon 217, leading to loss of amino acid residues asp (D) and ile (I). In 1 family, the 2 affected brothers inherited the deletion mutation from their father and a nonsense mutation (<a href="#0001">276903.0001</a>) from their mother. The 2 families originated from different geographic regions, suggesting that 2 independent mutational events were responsible for the 6-bp deletion. The deletion occurred in an 11-bp sequence containing two 5-bp direct repeats, and it was considered possible that either replication slippage or slipped-strand mispairing was responsible for the mutational event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28934610 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28934610;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28934610?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28934610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28934610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012624 OR RCV000036232 OR RCV000665766 OR RCV001073914 OR RCV001221383 OR RCV003389443 OR RCV004786254" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012624, RCV000036232, RCV000665766, RCV001073914, RCV001221383, RCV003389443, RCV004786254" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012624...</a>
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<p>In individuals with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified a G-to-A transition in exon 7 of the MYO7A gene, resulting in an arg212-to-his (R212H) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J. <strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong> Am. J. Hum. Genet. 59: 1074-1083, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900236</a>]" pmid="8900236">Weston et al. (1996)</a> stated that R212H and R212C (<a href="#0005">276903.0005</a>) accounted for 8 of 23 mutant alleles from 20 probands in their study of USH1B. On 3 alleles (once in heterozygosity and once in homozygosity), the R212H mutation occurred in cis with an R302H (<a href="#0006">276903.0006</a>) mutation in exon 9. Affected sibs in a Dutch family were homozygous for the double mutation at both codons, while the affected sibs in a Finnish family showed only paternal inheritance of both mutations. Both R302H and R212H were observed singly in affected persons; neither had been observed in controls, either singly or as double mutations. Although these 3 mutations were the most common ones observed, comprising approximately 50% of all mutations found, they still represented less than 3% of the total USH1B chromosomes studied. Furthermore, no linkage disequilibrium between USH1B and several adjacent polymorphic markers was found, suggesting that there are several independently occurring mutations rather than a common USH1B allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121965080 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965080;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012625 OR RCV001047241 OR RCV005007838" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012625, RCV001047241, RCV005007838" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012625...</a>
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<p>In affected members of a family segregating Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#30" class="mim-tip-reference" title="Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C. <strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong> Nature 374: 60-61, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>] [<a href="https://doi.org/10.1038/374060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7870171">Weil et al. (1995)</a> identified a C-to-T transition in exon 7 in the MYO&A gene, resulting in an arg212-to-cys (R212C; <a href="#0005">276903.0005</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 USHER SYNDROME, TYPE IB</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41298135 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41298135;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs41298135?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs41298135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs41298135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012626 OR RCV000036251 OR RCV000282374 OR RCV000337254 OR RCV000386045 OR RCV000758141 OR RCV000835045 OR RCV002490355 OR RCV004814885" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012626, RCV000036251, RCV000282374, RCV000337254, RCV000386045, RCV000758141, RCV000835045, RCV002490355, RCV004814885" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012626...</a>
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<p><a href="#33" class="mim-tip-reference" title="Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J. <strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong> Am. J. Hum. Genet. 59: 1074-1083, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900236</a>]" pmid="8900236">Weston et al. (1996)</a> identified an arg302-to-his (R302H) mutation in the MYO7A gene in individuals with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), on 2 alleles in heterozygosity and on 3 alleles (once in heterozygosity and once in homozygosity) in cis with the R212H mutation (see <a href="#0004">276903.0004</a>). Both R302H and R212H were observed singly in affected persons; neither had been observed in controls, either singly or as double mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121965081 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965081;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121965081?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012627 OR RCV003492291" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012627, RCV003492291" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012627...</a>
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<p><a href="#23" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M. <strong>Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.</strong> Nature Genet. 16: 188-190, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171832</a>] [<a href="https://doi.org/10.1038/ng0697-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171832">Liu et al. (1997)</a> found mutations in the MYO7A gene in 2 of 8 families with autosomal recessive nonsyndromic deafness (DFNB2; <a href="/entry/600060">600060</a>) from the Sichuan province of China. In 1 family, 3 affected sibs were homozygous for an arg244-to-pro (R244P) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B. <strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong> Hum. Mutat. 29: 502-511, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18181211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18181211</a>] [<a href="https://doi.org/10.1002/humu.20677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18181211">Riazuddin et al. (2008)</a> stated that the R244P mutation is located in the motor domain of the protein. In vitro studies with the mouse ortholog, R233P, showed that the mutant protein did not localize within stereocilia of hair cells, similar to that observed with MYO7A constructs corresponding to Usher syndrome IB (USH1B; <a href="/entry/276900">276900</a>) mutants. Although R233P showed normal affinity to actin filaments, the ATPase rate was decreased compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18181211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs782064437 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs782064437;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs782064437?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs782064437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs782064437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012628 OR RCV000671659 OR RCV001383043 OR RCV001830451 OR RCV004527727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012628, RCV000671659, RCV001383043, RCV001830451, RCV004527727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012628...</a>
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<p>In a Chinese family with nonsyndromic autosomal recessive deafness (DFNB2; <a href="/entry/600060">600060</a>), <a href="#23" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M. <strong>Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.</strong> Nature Genet. 16: 188-190, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171832</a>] [<a href="https://doi.org/10.1038/ng0697-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171832">Liu et al. (1997)</a> found that 2 sibs were compound heterozygous for an acceptor splice site mutation in intron 3 (IVS3-2A-G) in 1 allele, while the other allele carried a T insertion in exon 28 (<a href="#0009">276903.0009</a>), val1199insT(fs), leading to a frameshift and stop codon 28 amino acids downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2135550200 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135550200;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2135550200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2135550200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the T insertion in exon 28 of the MYO7A gene that was found in compound heterozygous state in a Chinese family with nonsyndromic autosomal recessive deafness (DFNB2; <a href="/entry/600060">600060</a>) by <a href="#23" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M. <strong>Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.</strong> Nature Genet. 16: 188-190, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171832</a>] [<a href="https://doi.org/10.1038/ng0697-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171832">Liu et al. (1997)</a>, see <a href="#0008">276903.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121965082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965082;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012630 OR RCV000012631" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012630, RCV000012631" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012630...</a>
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<p>In affected members of a large consanguineous family from Tunisia in which 22 members were originally reported to have autosomal recessive sensorineural deafness (DFNB2; <a href="/entry/600060">600060</a>) (<a href="#15" class="mim-tip-reference" title="Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C. <strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong> Hum. Molec. Genet. 3: 989-993, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951250</a>] [<a href="https://doi.org/10.1093/hmg/3.6.989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951250">Guilford et al., 1994</a>), <a href="#31" class="mim-tip-reference" title="Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C. <strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong> Nature Genet. 16: 191-193, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171833</a>] [<a href="https://doi.org/10.1038/ng0697-191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171833">Weil et al. (1997)</a> identified a homozygous G-to-A transition at the last nucleotide of exon 15 in the MYO7A gene, resulting in a met599-to-ile (M599I) substitution. The mutation was not detected in 100 unaffected individuals living in the same Tunisian region who were not related to the affected family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7951250+9171833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Zina, Z., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C. <strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong> Am. J. Med. Genet. 101: 181-183, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391666</a>] [<a href="https://doi.org/10.1002/ajmg.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11391666">Zina et al. (2001)</a> reevaluated the family reported by <a href="#15" class="mim-tip-reference" title="Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C. <strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong> Hum. Molec. Genet. 3: 989-993, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951250</a>] [<a href="https://doi.org/10.1093/hmg/3.6.989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951250">Guilford et al. (1994)</a> and <a href="#31" class="mim-tip-reference" title="Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C. <strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong> Nature Genet. 16: 191-193, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171833</a>] [<a href="https://doi.org/10.1038/ng0697-191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9171833">Weil et al. (1997)</a>. Since the original reports, 5 patients had developed mild retinal degeneration in addition to the progressive deafness. Fundus examination of 1 patient showed spicule pigmentary changes consistent with retinal dystrophy. Another previously unaffected family member, homozygous for the mutation, had retinitis pigmentosa. Seven patients had abnormal vestibular function as assessed by caloric tests. <a href="#35" class="mim-tip-reference" title="Zina, Z., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C. <strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong> Am. J. Med. Genet. 101: 181-183, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391666</a>] [<a href="https://doi.org/10.1002/ajmg.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11391666">Zina et al. (2001)</a> concluded that some patients in this Tunisian family had features consistent with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>). The findings suggested that other factors must modulate the expression of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11391666+7951250+9171833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 DEAFNESS, AUTOSOMAL DOMINANT 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2135478294 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2135478294;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2135478294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2135478294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012632</a>
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<p>In a Japanese family with autosomal dominant nonsyndromic hearing loss mapping to 11q (DFNA11; <a href="/entry/601317">601317</a>), <a href="#24" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P., Brown, S. D. M. <strong>Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. (Letter)</strong> Nature Genet. 17: 268-269, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354784</a>] [<a href="https://doi.org/10.1038/ng1197-268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354784">Liu et al. (1997)</a> demonstrated an in-frame 9-bp deletion in exon 22 of the MYO7A gene, leading to deletion of 3 amino acids (ala886-lys887-lys888) in the coiled-coil region of the protein. All affected members of the family had postlingual bilateral sensorineural hearing loss with subsequent gradual progression. This was the first mutation identified in the coiled-coiled region, which is thought to be responsible for dimerization of the molecule. <a href="#24" class="mim-tip-reference" title="Liu, X.-Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P., Brown, S. D. M. <strong>Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. (Letter)</strong> Nature Genet. 17: 268-269, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354784</a>] [<a href="https://doi.org/10.1038/ng1197-268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354784">Liu et al. (1997)</a> postulated that the mutant protein interacted with the wildtype protein, resulting in a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121965083 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965083;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012633 OR RCV002512985" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012633, RCV002512985" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012633...</a>
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<p>In 3 affected members of a Spanish family with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#10" class="mim-tip-reference" title="Cuevas, J. M., Espinos, C., Millan, J. M., Sanchez, F., Trujillo, M. J., Garcia-Sandoval, B., Ayuso, C., Najera, C., Beneyto, M. <strong>Detection of a novel cys628-to-stop mutation of the myosin VIIA gene in Usher syndrome type Ib.</strong> Molec. Cell. Probes 12: 417-420, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843659</a>] [<a href="https://doi.org/10.1006/mcpr.1998.0202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843659">Cuevas et al. (1998)</a> identified a homozygous C-to-A transversion in exon 16 of the MYO7A gene, resulting in a cys628-to-ter (C682X) substitution. The mutation segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 USHER SYNDROME, TYPE IB</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35689081 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35689081;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs35689081?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs35689081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs35689081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012634 OR RCV000154341 OR RCV000665804 OR RCV000787856 OR RCV001226256 OR RCV001291462" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012634, RCV000154341, RCV000665804, RCV000787856, RCV001226256, RCV001291462" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012634...</a>
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<p>In 9 of 12 mutant alleles in 6 patients from Denmark with Usher syndrome type IB (USH1B; <a href="/entry/276900">276900</a>), <a href="#17" class="mim-tip-reference" title="Janecke, A. R., Meins, M., Sadeghi, M., Grundmann, K., Apfelstedt-Sylla, E., Zrenner, E., Rosenberg, T., Gal, A. <strong>Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.</strong> Hum. Mutat. 13: 133-140, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10094549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10094549</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10094549">Janecke et al. (1999)</a> identified a C-to-A transversion in exon 3 of the MYO7A gene, resulting in a cys31-to-ter (C31X) substitution. Although the families were not known to be related, genotyping for 6 intragenic polymorphisms suggested that the 9 mutation-bearing chromosomes originated from the same ancestor. <a href="#33" class="mim-tip-reference" title="Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J. <strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong> Am. J. Hum. Genet. 59: 1074-1083, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900236</a>]" pmid="8900236">Weston et al. (1996)</a> had detected the same C31X mutation in a proband from Sweden and in a proband of Scandinavian ancestry from the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8900236+10094549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs375050157 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs375050157;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs375050157?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs375050157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs375050157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012637</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to Usher syndrome has not been confirmed.</p><p><a href="#1" class="mim-tip-reference" title="Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B. <strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong> Am. J. Hum. Genet. 65: 261-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>] [<a href="https://doi.org/10.1086/302438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364543">Adato et al. (1999)</a> suggested that digenic inheritance might be operative in a Yemenite family in which 2 of 8 children had Usher syndrome. Two affected brothers in this family had different Usher syndrome phenotypes. One had a typical USH1 phenotype (<a href="/entry/276900">276900</a>): he had a history of prelingual profound auditory impairment; he used sign language for communication, since hearing aids were unhelpful in his case; and developmental milestones in his childhood were consistent with congenital vestibular dysfunction. The other affected brother had a typical USH3 phenotype (<a href="/entry/276902">276902</a>): he had progressive hearing loss, with postlingual onset; he used hearing aids and verbal communication; and he received psychiatric therapy for mental problems. Both brothers had bilateral progressive pigmentary retinopathy, with onset during early adolescence. In both affected brothers, <a href="#1" class="mim-tip-reference" title="Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B. <strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong> Am. J. Hum. Genet. 65: 261-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>] [<a href="https://doi.org/10.1086/302438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364543">Adato et al. (1999)</a> found homozygosity for a haplotype consistent with a location on chromosome 3, where the USH3 gene is located. Since one of the affected brothers had a USH1 phenotype, family members were screened for mutations in the MYO7A gene. On 1 maternal chromosome, transmitted to the brother with the USH1 phenotype and to 2 unaffected sibs, but not to the brother with the USH3 phenotype, they found a double mutation: a T-to-C transition in exon 25 of the MYO7A gene, predicted to cause a leu1087-to-pro (L1087P) substitution; and a guanine deletion 5 nucleotides upstream of this transition, predicted to cause a frameshift of the reading frame starting at codon 1089. This frameshift would result in the formation of a UGA stop codon 18 amino acids downstream from the deletion site and, therefore, in the translation of a truncated protein that lacked more than 50% of its normal amino acid sequence, which comprises most of the MYO7A tail domain. Segregation of the mutated MYO7A with healthy family members as well as with the more severe USH phenotype suggested a possible biologic interaction between MYO7A and the USH3 gene products. The mutated MYO7A appeared to be phenotypically expressed only on the background of 2 USH3 alleles. <a href="#2" class="mim-tip-reference" title="Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millan, J. M., Lehesjoki, A.-E., Flannery, J. G., Avraham, K. B., Pietrovski, S., Sankila, E.-M., Beckmann, J. S., Lancet, D. <strong>USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.</strong> Europ. J. Hum. Genet. 10: 339-350, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080385</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12080385">Adato et al. (2002)</a> restudied the Jewish Yemenite family previously reported by <a href="#1" class="mim-tip-reference" title="Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B. <strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong> Am. J. Hum. Genet. 65: 261-265, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>] [<a href="https://doi.org/10.1086/302438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364543">Adato et al. (1999)</a> and identified homozygosity for a 23-bp deletion in the CLRN1 gene (<a href="/entry/606397#0007">606397.0007</a>) in the affected brothers. The authors stated that this represented a departure from the monogenic model for Usher syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10364543+12080385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121965084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965084;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121965084?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012638 OR RCV001723559" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012638, RCV001723559" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012638...</a>
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<p>In affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness (DFNA11; <a href="/entry/601317">601317</a>), <a href="#25" class="mim-tip-reference" title="Luijendijk, M. W. J., van Wijk, E., Bischoff, A. M. L. C., Krieger, E., Huygen, P. L. M., Pennings, R. J. E., Brunner, H. G., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H. <strong>Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).</strong> Hum. Genet. 115: 149-156, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15221449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15221449</a>] [<a href="https://doi.org/10.1007/s00439-004-1137-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15221449">Luijendijk et al. (2004)</a> identified a heterozygous 1373A-T transversion in exon 13 of the MYO7A gene, resulting in an asn458-to-ile (N458I) substitution. In a molecular model, the mutant protein was predicted to disrupt ATP binding and impair the myosin power stroke. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15221449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121965085 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965085;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121965085?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121965085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121965085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012635 OR RCV000151490 OR RCV000669149 OR RCV001091731 OR RCV002490356" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012635, RCV000151490, RCV000669149, RCV001091731, RCV002490356" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012635...</a>
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<p>Through a systematic mutation screening of the genes known to cause type I Usher syndrome in patients from the U.S. and U.K., <a href="#26" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z. <strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong> Hum. Genet. 116: 292-299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>] [<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15660226">Ouyang et al. (2005)</a> identified a 1996C-T transition in exon 17 of the MYO7A gene, resulting in an arg666-to-ter nonsense mutation (R666X). The mutation was predicted to truncate myosin VIIA by approximately 90%. Of the 12 mutations detected by <a href="#26" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z. <strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong> Hum. Genet. 116: 292-299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>] [<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15660226">Ouyang et al. (2005)</a> at the MYO7A locus in patients with type I Usher syndrome (USH1B; <a href="/entry/276900">276900</a>), 5 of 21 alleles (23.8%) were R666X. A G-C transversion within the splice acceptor site of intron 27 (<a href="#0017">276903.0017</a>) accounted for 3 of 21 alleles (14.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15660226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Of the 12 mutations detected by <a href="#26" class="mim-tip-reference" title="Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z. <strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong> Hum. Genet. 116: 292-299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>] [<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15660226">Ouyang et al. (2005)</a> at the MYO7A locus in patients with type I Usher syndrome (USH1B; <a href="/entry/276900">276900</a>), a G-C transversion within the splice acceptor site of intron 27 accounted for 3 of 21 alleles (14.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15660226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555102843 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555102843;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1555102843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1555102843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012639 OR RCV003230352 OR RCV004795396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012639, RCV003230352, RCV004795396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012639...</a>
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<p>In affected members of a consanguineous Pakistani family with autosomal recessive deafness (DFNB2; <a href="/entry/600060">600060</a>), <a href="#27" class="mim-tip-reference" title="Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B. <strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong> Hum. Mutat. 29: 502-511, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18181211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18181211</a>] [<a href="https://doi.org/10.1002/humu.20677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18181211">Riazuddin et al. (2008)</a> identified a homozygous 3-bp deletion (5146delGAG) in exon 37 of the MYO7A gene, resulting in an in-frame loss of a conserved glutamate residue at codon 1716. This residue is located in the tail region between the SH3 domain and the second MyTH4 domain. In vitro studies targeting the homologous mutant 5146delGAG protein in cultured mouse cells indicated that the protein localized along the length of inner ear hair cell stereocilia similar to the wildtype protein. Similar studies with truncating MYO7A mutations resulting in Usher syndrome IB (USH1B; <a href="/entry/276900">276900</a>) showed no localization to stereocilia. <a href="#27" class="mim-tip-reference" title="Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B. <strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong> Hum. Mutat. 29: 502-511, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18181211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18181211</a>] [<a href="https://doi.org/10.1002/humu.20677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18181211">Riazuddin et al. (2008)</a> concluded that the mutation in this family caused a less severe phenotype compared to that of Usher syndrome IB because of residual protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18181211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201539845 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201539845;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs201539845?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs201539845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs201539845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022815 OR RCV000215956 OR RCV000822163 OR RCV001275897 OR RCV002251923 OR RCV005007888" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022815, RCV000215956, RCV000822163, RCV001275897, RCV002251923, RCV005007888" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022815...</a>
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<p>In affected members of a Chinese family with autosomal dominant nonsyndromic deafness-11 (DFNA11; <a href="/entry/601317">601317</a>), <a href="#28" class="mim-tip-reference" title="Sun, Y., Chen, J., Sun, H., Cheng, J., Li, J., Lu, Y., Lu, Y., Jin, Z., Zhu, Y., Ouyang, X., Yan, D., Dai, P., Han, D., Yang, W., Wang, R., Liu, X., Yuan, H. <strong>Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.</strong> J. Hum. Genet. 56: 64-70, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21150918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21150918</a>] [<a href="https://doi.org/10.1038/jhg.2010.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21150918">Sun et al. (2011)</a> identified a heterozygous 652G-A transition in exon 7 of the MYO7A gene, resulting in an asp218-to-asn (D218N) substitution in a conserved residue in the motor domain. The mutation was not found in 100 controls. Affected individuals had onset between ages 20 and 47 years of bilateral mild to severe symmetric hearing impairment particularly involving high frequencies. The audiogram was flat or downward sloping. Tinnitus occurred before hearing loss, but there was no vestibular involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21150918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 DEAFNESS, AUTOSOMAL DOMINANT 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906699 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906699;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022816 OR RCV000151492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022816, RCV000151492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022816...</a>
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<p>In affected members of a Chinese family with autosomal dominant nonsyndromic deafness-11 (DFNA11; <a href="/entry/601317">601317</a>), <a href="#28" class="mim-tip-reference" title="Sun, Y., Chen, J., Sun, H., Cheng, J., Li, J., Lu, Y., Lu, Y., Jin, Z., Zhu, Y., Ouyang, X., Yan, D., Dai, P., Han, D., Yang, W., Wang, R., Liu, X., Yuan, H. <strong>Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.</strong> J. Hum. Genet. 56: 64-70, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21150918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21150918</a>] [<a href="https://doi.org/10.1038/jhg.2010.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21150918">Sun et al. (2011)</a> identified a heterozygous 2011G-A transition in exon 17 of the MYO7A gene, resulting in a gly671-to-ser (G671S) substitution in a conserved residue in the region of the myosin head converter domain. Affected individuals had onset between ages 10 and 39 years of bilateral mild to severe symmetric hearing loss affecting mainly low frequencies. The audiogram was flat or ascending. Tinnitus occurred before hearing loss, but there was no vestibular involvement. Electrocochleography in this family showed no evidence of endolymphatic hydrops. Molecular modeling suggested that the substituted serine side chain projects into a conserved hydrophobic pocket in the converter domain and relay loop of this region, generating steric hindrance with neighboring amino acid tyr477. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21150918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906700 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906700;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387906700?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022817 OR RCV001852003 OR RCV003317043" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022817, RCV001852003, RCV003317043" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022817...</a>
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<p>In 3 sibs, born of consanguineous Iranian parents, with autosomal recessive deafness-2 (DFNB2; <a href="/entry/600060">600060</a>), <a href="#16" class="mim-tip-reference" title="Hildebrand, M. S., Thorne, N. P., Bromhead, C. J., Kahrizi, K., Webster, J. A., Fattahi, Z., Bataejad, M., Kimberling, W. J., Stephan, D., Najmabadi, H., Bahlo, M., Smith, R. J. H. <strong>Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.</strong> Clin. Genet. 77: 563-571, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20132242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20132242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20132242[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01344.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20132242">Hildebrand et al. (2010)</a> identified a homozygous 1184G-A transition in exon 11 of the MYO7A gene, resulting in an arg395-to-his (R395H) substitution in a highly conserved residue in the motor domain of the protein. The mutation was not found in 94 Iranian control chromosomes or in 258 control chromosomes. Onset of hearing loss occurred between ages 7 months and 7 years. Audiologic testing revealed hearing loss at all frequencies, although low frequency hearing was less impaired. All had normal vestibular function, and funduscopic examination and visual acuity tests excluded retinitis pigmentosa in all patients at ages 39, 31, and 42 years, respectively. One patient had a milder phenotype, with later onset and less severe impairment, suggesting the presence of a genetic modifier. The findings confirmed that nonsyndromic hearing loss can be caused by mutation in the MYO7A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20132242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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|
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|
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|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Adato1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B.
|
|
<strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong>
|
|
Am. J. Hum. Genet. 65: 261-265, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1086/302438" target="_blank">Full Text</a>]
|
|
|
|
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|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Adato2002" class="mim-anchor"></a>
|
|
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|
|
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|
|
Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millan, J. M., Lehesjoki, A.-E., Flannery, J. G., Avraham, K. B., Pietrovski, S., Sankila, E.-M., Beckmann, J. S., Lancet, D.
|
|
<strong>USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.</strong>
|
|
Europ. J. Hum. Genet. 10: 339-350, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12080385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1038/sj.ejhg.5200831" target="_blank">Full Text</a>]
|
|
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</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Adato1997" class="mim-anchor"></a>
|
|
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|
|
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|
|
Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B.
|
|
<strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong>
|
|
Am. J. Hum. Genet. 61: 813-821, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
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|
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[<a href="https://doi.org/10.1086/514899" target="_blank">Full Text</a>]
|
|
|
|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bahloul2010" class="mim-anchor"></a>
|
|
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|
|
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|
|
Bahloul, A., Michel, V., Hardelin, J.-P., Nouaille, S., Hoos, S., Houdusse, A., England, P., Petit, C.
|
|
<strong>Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, for a ternary complex and interact with membrane phospholipids.</strong>
|
|
Hum. Molec. Genet. 19: 3557-3565, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639393</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20639393[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1093/hmg/ddq271" target="_blank">Full Text</a>]
|
|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Balciuniene1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Balciuniene, J., Dahl, N., Borg, E., Samuelsson, E., Koisti, M. J., Pettersson, U., Jazin, E. E.
|
|
<strong>Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.</strong>
|
|
Am. J. Hum. Genet. 63: 786-793, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9718342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9718342</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9718342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302012" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Boeda2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boeda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K. R., Shorte, S., Reiners, J., Houdusse, A., Legrain, P., Wolfrum, U., Richardson, G., Petit, C.
|
|
<strong>Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.</strong>
|
|
EMBO J. 21: 6689-6699, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12485990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12485990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12485990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12485990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/emboj/cdf689" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Boeda2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boeda, B., Weil, D., Petit, C.
|
|
<strong>A specific promoter of the sensory cells of the inner ear defined by transgenesis.</strong>
|
|
Hum. Molec. Genet. 10: 1581-1589, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11468276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11468276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11468276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1093/hmg/10.15.1581" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Chen1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, A., Wayne, S., Bell, A., Ramesh, A., Srisailapathy, C. R., Scott, D. A., Sheffield, V. C., Van Hauwe, P., Zbar, R. I., Ashley, J., Lovett, M., Van Camp, G., Smith, R. J.
|
|
<strong>New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.</strong>
|
|
Am. J. Med. Genet. 71: 467-471, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9286457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9286457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9286457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Chen1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Hasson, T., Kelley, P. M., Schwender, B. J., Schwartz, M. F., Ramakrishnan, M., Kimberling, W. J., Mooseker, M. S., Corey, D. P.
|
|
<strong>Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.</strong>
|
|
Genomics 36: 440-448, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884267</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8884267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1996.0489" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Cuevas1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cuevas, J. M., Espinos, C., Millan, J. M., Sanchez, F., Trujillo, M. J., Garcia-Sandoval, B., Ayuso, C., Najera, C., Beneyto, M.
|
|
<strong>Detection of a novel cys628-to-stop mutation of the myosin VIIA gene in Usher syndrome type Ib.</strong>
|
|
Molec. Cell. Probes 12: 417-420, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9843659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
|
[<a href="https://doi.org/10.1006/mcpr.1998.0202" target="_blank">Full Text</a>]
|
|
|
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|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="El-Amraoui1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
El-Amraoui, A., Sahly, I., Picaud, S., Sahel. J., Abitbol, M., Petit, C.
|
|
<strong>Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.</strong>
|
|
Hum. Molec. Genet. 5: 1171-1178, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.8.1171" target="_blank">Full Text</a>]
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|
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|
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|
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|
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|
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Ernest, S., Rauch, G.-J., Haffter, P., Geisler, R., Petit, C., Nicolson, T.
|
|
<strong>Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.</strong>
|
|
Hum. Molec. Genet. 9: 2189-2196, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.14.2189" target="_blank">Full Text</a>]
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</li>
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|
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<a id="13" class="mim-anchor"></a>
|
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<a id="Gibbs2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gibbs, D., Kitamoto, J., Williams, D. S.
|
|
<strong>Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 6481-6486, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12743369[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12743369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1130432100" target="_blank">Full Text</a>]
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|
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<li>
|
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|
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|
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|
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|
|
Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., Brown, S. D. M.
|
|
<strong>A type VII myosin encoded by the mouse deafness gene shaker-1.</strong>
|
|
Nature 374: 62-64, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/374062a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Guilford1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C.
|
|
<strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong>
|
|
Hum. Molec. Genet. 3: 989-993, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/3.6.989" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Hildebrand2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hildebrand, M. S., Thorne, N. P., Bromhead, C. J., Kahrizi, K., Webster, J. A., Fattahi, Z., Bataejad, M., Kimberling, W. J., Stephan, D., Najmabadi, H., Bahlo, M., Smith, R. J. H.
|
|
<strong>Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.</strong>
|
|
Clin. Genet. 77: 563-571, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20132242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20132242</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20132242[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20132242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2009.01344.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Janecke1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Janecke, A. R., Meins, M., Sadeghi, M., Grundmann, K., Apfelstedt-Sylla, E., Zrenner, E., Rosenberg, T., Gal, A.
|
|
<strong>Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.</strong>
|
|
Hum. Mutat. 13: 133-140, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10094549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10094549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10094549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Karolyi2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karolyi, I. J., Probst, F. J., Beyer, L., Odeh, H., Dootz, G., Cha, K. B., Martin, D. M., Avraham, K. B., Kohrman, D., Dolan, D. F., Raphael, Y., Camper, S. A.
|
|
<strong>Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.</strong>
|
|
Hum. Molec. Genet. 12: 2797-2805, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddg308" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Kelley1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kelley, P. M., Weston, M. D., Chen, Z.-Y., Orten, D. J., Hasson, T., Overbeck, L. D., Pinnt, J., Talmadge, C. B., Ing, P., Mooseker, M. S., Corey, D., Sumegi, J., Kimberling, W. J.
|
|
<strong>The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).</strong>
|
|
Genomics 40: 73-79, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9070921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9070921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9070921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1996.4545" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Levy1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Levy, G., Levi-Acobas, F., Blanchard, S., Gerber, S., Larget-Piet, D., Chenal, V., Liu, X.-Z., Newton, V., Steel, K. P., Brown, S. D. M., Munnich, A., Kaplan, J., Petit, C., Weil, D.
|
|
<strong>Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.</strong>
|
|
Hum. Molec. Genet. 6: 111-116, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9002678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9002678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9002678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/6.1.111" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Liu1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X., Ondek, B., Williams, D. S.
|
|
<strong>Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. (Letter)</strong>
|
|
Nature Genet. 19: 117-118, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9620764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9620764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9620764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/470" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Liu1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X., Udovichenko, I. P., Brown, S. D. M., Steel, K. P., Williams, D. S.
|
|
<strong>Myosin VIIa participates in opsin transport through the photoreceptor cilium.</strong>
|
|
J. Neurosci. 19: 6267-6274, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10414956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10414956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10414956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1523/JNEUROSCI.19-15-06267.1999" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Liu1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M.
|
|
<strong>Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.</strong>
|
|
Nature Genet. 16: 188-190, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0697-188" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Liu1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X.-Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P., Brown, S. D. M.
|
|
<strong>Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. (Letter)</strong>
|
|
Nature Genet. 17: 268-269, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1197-268" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Luijendijk2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Luijendijk, M. W. J., van Wijk, E., Bischoff, A. M. L. C., Krieger, E., Huygen, P. L. M., Pennings, R. J. E., Brunner, H. G., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H.
|
|
<strong>Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).</strong>
|
|
Hum. Genet. 115: 149-156, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15221449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15221449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15221449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-004-1137-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Ouyang2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z.
|
|
<strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong>
|
|
Hum. Genet. 116: 292-299, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15660226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15660226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15660226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-004-1227-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Riazuddin2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B.
|
|
<strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong>
|
|
Hum. Mutat. 29: 502-511, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18181211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18181211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18181211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.20677" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Sun2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sun, Y., Chen, J., Sun, H., Cheng, J., Li, J., Lu, Y., Lu, Y., Jin, Z., Zhu, Y., Ouyang, X., Yan, D., Dai, P., Han, D., Yang, W., Wang, R., Liu, X., Yuan, H.
|
|
<strong>Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.</strong>
|
|
J. Hum. Genet. 56: 64-70, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21150918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21150918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21150918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/jhg.2010.147" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Wang2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wang, X., Wang, H., Cao, M., Li, Z., Chen, X., Patenia, C., Gore, A., Abboud, E. B., Al-Rajhi, A. A., Lewis, R. A., Lupski, J. R., Mardon, G., Zhang, K., Muzny, D., Gibbs, R. A., Chen, R.
|
|
<strong>Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.</strong>
|
|
Hum. Mutat. 32: 1450-1459, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21901789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21901789</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21901789[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21901789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.21587" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
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<a id="Weil1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C.
|
|
<strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong>
|
|
Nature 374: 60-61, 1995.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7870171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7870171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7870171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/374060a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Weil1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C.
|
|
<strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong>
|
|
Nature Genet. 16: 191-193, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9171833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9171833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9171833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0697-191" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Weil1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M., Petit, C.
|
|
<strong>Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.93.8.3232" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Weston1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J.
|
|
<strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong>
|
|
Am. J. Hum. Genet. 59: 1074-1083, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Wu2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, L., Pan, L., Wei, Z., Zhang, M.
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|
<strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong>
|
|
Science 331: 757-760, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21311020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21311020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21311020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1198848" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Zina2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zina, Z., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C.
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|
<strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong>
|
|
Am. J. Med. Genet. 101: 181-183, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11391666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11391666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11391666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1335" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/2/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 5/2/2012<br>Cassandra L. Kniffin - updated : 12/21/2011<br>Ada Hamosh - updated : 5/6/2011<br>Marla J. F. O'Neill - updated : 5/3/2011<br>Cassandra L. Kniffin - updated : 2/14/2011<br>Cassandra L. Kniffin - reorganized : 10/24/2008<br>Cassandra L. Kniffin - updated : 10/22/2008<br>George E. Tiller - updated : 1/31/2006<br>Victor A. McKusick - updated : 3/31/2005<br>Victor A. McKusick - updated : 7/14/2004<br>Victor A. McKusick - updated : 6/25/2003<br>Patricia A. Hartz - updated : 3/10/2003<br>George E. Tiller - updated : 12/17/2001<br>George E. Tiller - updated : 11/17/2000<br>Victor A. McKusick - updated : 6/30/1999<br>Victor A. McKusick - updated : 3/1/1999<br>Victor A. McKusick - updated : 2/19/1999<br>Victor A. McKusick - updated : 5/27/1998<br>Rebekah S. Rasooly - updated : 3/9/1998<br>Victor A. McKusick - updated : 10/27/1997<br>Victor A. McKusick - updated : 10/17/1997<br>Victor A. McKusick - updated : 6/2/1997<br>Victor A. McKusick - updated : 2/28/1997<br>Moyra Smith - updated : 9/6/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/7/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/23/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/21/2019<br>carol : 08/03/2018<br>carol : 01/26/2018<br>carol : 01/25/2018<br>carol : 07/19/2017<br>alopez : 11/08/2016<br>carol : 08/21/2015<br>mcolton : 8/19/2015<br>terry : 11/7/2012<br>carol : 11/2/2012<br>carol : 6/5/2012<br>mgross : 5/2/2012<br>alopez : 4/12/2012<br>carol : 3/9/2012<br>carol : 12/22/2011<br>terry : 12/22/2011<br>ckniffin : 12/21/2011<br>alopez : 5/10/2011<br>terry : 5/6/2011<br>carol : 5/5/2011<br>terry : 5/3/2011<br>wwang : 3/2/2011<br>ckniffin : 2/14/2011<br>alopez : 2/5/2009<br>terry : 12/12/2008<br>terry : 12/2/2008<br>carol : 10/24/2008<br>ckniffin : 10/22/2008<br>carol : 11/2/2007<br>carol : 5/10/2006<br>carol : 2/28/2006<br>wwang : 2/6/2006<br>terry : 1/31/2006<br>wwang : 4/6/2005<br>wwang : 4/4/2005<br>wwang : 4/1/2005<br>terry : 3/31/2005<br>tkritzer : 7/20/2004<br>terry : 7/14/2004<br>carol : 3/17/2004<br>carol : 11/13/2003<br>tkritzer : 6/26/2003<br>tkritzer : 6/25/2003<br>mgross : 3/13/2003<br>terry : 3/10/2003<br>cwells : 12/28/2001<br>cwells : 12/17/2001<br>carol : 7/20/2001<br>terry : 11/17/2000<br>jlewis : 7/15/1999<br>terry : 6/30/1999<br>carol : 3/3/1999<br>terry : 3/1/1999<br>carol : 2/22/1999<br>terry : 2/19/1999<br>terry : 6/4/1998<br>alopez : 6/1/1998<br>terry : 5/27/1998<br>carol : 3/9/1998<br>joanna : 11/26/1997<br>terry : 10/28/1997<br>terry : 10/28/1997<br>terry : 10/27/1997<br>jenny : 10/21/1997<br>terry : 10/17/1997<br>mark : 6/2/1997<br>terry : 5/29/1997<br>mark : 2/28/1997<br>terry : 2/26/1997<br>terry : 12/30/1996<br>terry : 12/20/1996<br>mark : 10/22/1996<br>terry : 10/14/1996<br>mark : 9/6/1996<br>terry : 5/7/1996<br>terry : 4/30/1996<br>mark : 3/14/1996<br>mark : 3/4/1996<br>terry : 2/29/1996<br>terry : 3/22/1995<br>mimadm : 4/8/1994<br>carol : 4/6/1994<br>carol : 3/1/1993<br>carol : 1/19/1993<br>carol : 1/7/1993
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 276903
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MYOSIN VIIA; MYO7A
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MYO7A</em></strong>
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</span>
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</p>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q13.5
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:77,128,246-77,215,241 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="3">
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<span class="mim-font">
|
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11q13.5
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Deafness, autosomal dominant 11
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
601317
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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Deafness, autosomal recessive 2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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600060
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
Usher syndrome, type 1B
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
276900
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The MYO7A gene encodes a protein classified as an unconventional myosin. Unconventional myosins are motor molecules with structurally conserved heads that move along actin filaments. Their highly divergent tails are presumed to be tethered to different macromolecular structures that move relative to actin filaments, thus enabling them to transport cargo (Weil et al., 1995). </p>
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<h4>
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<strong>Cloning and Expression</strong>
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<p>By positional cloning, Weil et al. (1995) identified the MYO7A gene within the candidate gene region for Usher syndrome type IB (USH1B; see 276900) on chromosome 11q. Clones corresponding to the gene were isolated from a retinal cDNA library. The deduced protein encoded most of the motor head of myosin and was 95% identical to the mouse protein. RT-PCR products were detected in human kidney, liver, and retina, but not in brain or lymphocytes transformed by Epstein-Barr virus. </p><p>Weil et al. (1996) presented the cDNA sequence of myosin VIIA which predicted a 2,215-amino acid protein with a typical unconventional myosin structure. The protein was expected to dimerize into a 2-headed molecule. The C terminus of its tail shares homology with the membrane-binding domain of the band 4.1 protein superfamily (see 130500). Several alternatively spliced isoforms were identified. In situ hybridization analysis in human embryos demonstrated MYO7A expression in the retinal pigment epithelium and photoreceptor cells, as well as in cochlear and vestibular neuroepithelia. </p><p>Gibson et al. (1995) identified the mouse Myo7a gene as being causative for the shaker-1 (sh1) phenotype, which is characterized by cochlear and vestibular dysfunction, but no retinal abnormalities. The authors identified the gene using positional cloning based on the fact that the olfactory marker protein gene (Omp) is very tightly linked to the mouse sh1 mutation on mouse chromosome 7. Among the 9 unique exon-trap products found in a YAC from this region, there was 1 that was used to isolate a 4.6-kb clone from a mouse inner-ear cDNA library. Sequence analysis demonstrated that this was the gene encoding myosin VIIA. The findings of both Weil et al. (1995) and Gibson et al. (1995) indicated that USH1B and 'shaker' are primary cytoskeletal protein defects. </p><p>Chen et al. (1996) cloned cDNAs encoding a previously unexplored portion of the MYO7A gene. Two transcripts were found, one encoding the predicted 250-kD protein and another encoding a shorter form. Both transcripts were found in highest abundance in testis, although the shorter one was much less abundant. Both were detected in lymphocytes by RT-PCR. The myosin tail encoded by the long transcript includes a long repeat of approximately 460 amino acids. Each repeat contains a novel 'MyTH4' domain similar to domains in 3 other myosins, and a domain similar to the membrane-associated portion of talin (186745) and other members of the band 4.1 family. </p><p>Kelley et al. (1997) found that the largest mRNA transcript is 7.4 kb. </p>
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<h4>
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<strong>Gene Structure</strong>
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<p>Weil et al. (1996) determined that the MYO7A gene contains 48 coding exons. </p><p>Kelley et al. (1997) reported that the MYO7A gene spans 120 kb and has 49 exons. </p>
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<h4>
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<strong>Gene Function</strong>
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<p>By in situ hybridization analysis in human embryos, Weil et al. (1996) demonstrated that the MYO7A was expressed in the pigment epithelium and the photoreceptor cells of the retina, indicating to the authors that both cell types may be involved in the retinal degenerative process in Usher syndrome type IB. The gene was also expressed in the human embryonic cochlear and vestibular neuroepithelia. Weil et al. (1996) suggested that deafness and vestibular dysfunction in Usher syndrome patients results from a defect in the morphogenesis of the inner ear sensory cell stereocilia. </p><p>El-Amraoui et al. (1996) found that MYO7A was expressed in human embryo retinal pigment epithelium at 6, 9 and 10 weeks. From 18 to 19 weeks on and in the adult, MYO7A was present in both the pigment epithelium and the photoreceptor cells. MYO7A was mainly present in the inner segments, the base of the outer segments, and the synaptic endings of photoreceptor cells. Myo7a was not expressed in mouse photoreceptor cells, but was expressed in pigment epithelium cells. MYO7A was also expressed in cochlear hair cells during mouse embryonic development and in sensory hair cells in developing human otic vesicle, which correlated with the vestibular and cochlear dysfunctions resulting in balance problems and hearing impairment observed in both Usher patients and shaker-1 mouse mutants. The findings also indicated that the retinal abnormalities in USH1B result from a primary rod and cone defect, and that the shaker-1 mouse phenotype has no retinal defect since Myo7a is absent from the photoreceptor cells in rodents. </p><p>Boeda et al. (2002) noted that 3 distinct genetic forms of Usher syndrome, USH1B, USH1D (601607), and USH1C (276904), are caused by defects in the MYO7A, CDH23 (605516), and harmonin (USH1C; 605242) genes, respectively. They observed severely disorganized hair bundles in shaker-1 mice, and immunohistochemical analysis of differentiating hair cells indicated that Cdh23 was distributed normally in these mice, but harmonin b was not. Using human and mouse cDNA constructs and cells, they provided evidence that harmonin b anchors CDH23 to the stereocilia microfilaments and interacts directly with MYO7A, which conveys harmonin b along the actin core of the developing stereocilia. Boeda et al. (2002) proposed that the shaping of the hair bundle relies on a functional unit composed of MYO7A, harmonin b, and CDH23 and that the interaction of these proteins ensures the cohesion of the stereocilia. </p><p>Bahloul et al. (2010) found that both isoforms of mouse Cdh23 bound directly to the harmonin A isoform and to the tail of myosin-7a. The 3 proteins formed a complex that interacted with phosphatidylinositol 4,5-bisphosphate in synthetic liposomes. Knockout of Cdh23 in mice resulted in loss of harmonin from the apex of hair bundles in the organ of Corti and caused redistribution of a weakened myosin-7a signal along stereocilia. </p>
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<strong>Biochemical Features</strong>
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Wu et al. (2011) reported the crystal structure of the MyTH4-FERM domains of MYO7A in complex with the central domain (CEN) of SANS (607696) at 2.8-angstrom resolution. The MyTH4 and FERM domains form an integral structural and functional supramodule binding to 2 highly conserved segments (CEN1 and 2) of SANS. Wu et al. (2011) concluded that the MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p><strong><em>Usher Syndrome Type IB</em></strong></p><p>
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Weil et al. (1995) noted that the phenotype of Usher syndrome reflects cytoskeletal abnormalities, including abnormal organization of microtubules in the axoneme of photoreceptor cells (connecting cilium), nasal cilia cells, and sperm cells, as well as widespread degeneration of the organ of Corti. In affected members of 5 unrelated families with Usher syndrome IB, Weil et al. (1995) identified 5 different mutations in the MYO7A gene (276903.0001-276903.0005). </p><p>Among 189 patients with Usher syndrome type I, Weston et al. (1996) identified 13 different mutations within the N-terminal coding portion of the motor domain of MYO7A. The mutations segregated with the disease in 20 families. Two mutations, R212H (276903.0004) and R212C (276903.0005), accounted for the greatest percentage of observed mutant alleles (31% or 8/23 alleles). Three patients were homozygotes or compound heterozygotes for mutant alleles. All the other USH1B mutations observed were present in heterozygous state, and it was presumed that the mutation on the other allele was present in an unscreened region of the gene. None of the mutations reported by Weston et al. (1996) were observed in 96 unrelated control samples. </p><p>Levy et al. (1997) designed primers covering the complete MYO7A coding sequence, as well as the 3-prime noncoding sequence, allowing direct sequence analysis of 48 coding exons and flanking splice sites in 7 patients with USH1B. They identified 4 novel mutations. </p><p>Adato et al. (1997) screened USH1B families from 12 different ethnic groups for the presence of mutations in all 49 exons of the MYO7A gene. In 15 families, MYO7A mutations were detected, verifying their classification as USH1B. All of these mutations were novel, including 3 missense mutations, 1 premature stop codon, 2 splicing mutations, 1 frameshift, and 1 deletion of more than 2 kb comprising exons 47 and 48, a part of exon 49, and the introns between them. Three mutations were shared by more than 1 family, consistent with haplotype similarities. Altogether, 16 USH1B haplotypes were observed in the 15 families; most haplotypes were population specific. None of the 20 known USH1B mutations reported previously in other populations of the world were identified in these families, which although studied in Tel Aviv, were derived from many areas of the world. </p><p>Ouyang et al. (2005) carried out a systematic mutation screening of the genes known to cause type I Usher syndrome in patients from the U.S. and U.K. They identified a total of 27 different mutations. Approximately 35 to 39% of the observed mutations involved the USH1B (MYO7A) and USH1D (CDH23; 605516) genes. Two of the 12 MYO7A mutations they found, R666X (276903.0016) and IVS27-1G-C (276903.0017), accounted for 38% of the mutations found at that locus. </p><p>Riazuddin et al. (2008) identified 17 homozygous mutant alleles in the MYO7A gene, including 14 novel mutations, in affected members of 23 consanguineous Pakistani families with Usher syndrome IB. </p><p><strong><em>Nonsyndromic Deafness</em></strong></p><p>
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Liu et al. (1997) found mutations in the MYO7A gene in 2 of 8 families with autosomal recessive nonsyndromic deafness (DFNB2; 600060) from the Sichuan province of China. In 1 family, 3 affected sibs were homozygous for an R244P mutation (276903.0007). </p><p>In a Japanese family with autosomal dominant nonsyndromic hearing loss mapping to 11q (DFNA11; 601317), Liu et al. (1997) identified a heterozygous mutation in the MYO7A gene (276903.0011). All affected members of the family had postlingual bilateral sensorineural hearing loss with subsequent gradual progression. Luijendijk et al. (2004) identified a heterozygous mutation in the MYO7A gene (276903.0015) in affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness. </p><p>In affected members of a consanguineous Pakistani family with autosomal recessive DFNB2, Riazuddin et al. (2008) identified a homozygous mutation in the MYO7A gene (276903.0018). </p><p>In 3 sibs, born of consanguineous Iranian parents, with DFNB2, Hildebrand et al. (2010) identified a homozygous mutation in the MYO7A gene (R395H; 276903.0021). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In 4 affected members from a consanguineous Saudi Arabian family with Leber congenital amaurosis (LCA; see 204000), Wang et al. (2011) identified homozygosity for a missense mutation in the motor domain of the MYO7A gene (578C-T; T193I) that segregated with disease in the family and was not found in 200 controls or the dbSNP or 1000 Genomes Project databases. All 4 patients had poor vision since birth, with nystagmus, neuroepithelial atrophy, and nonrecordable electroretinograms. The authors stated that patients in this family did not exhibit hearing loss. </p>
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<h4>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Digenic inheritance of nonsyndromic deafness had been presented by Balciuniene et al. (1998) in the case of a Swedish family whose affected members were carriers of DFNA2 (600101) and/or DFNA12 (601543), both autosomal dominant disorders. Increased severity of deafness was found in family members who were carriers of both alleles. Digenic inheritance was also suggested as one of the possible explanations in the case of DFNB15 (601869). Chen et al. (1997) observed this autosomal recessive nonsyndromic deafness in a family of Indian origin and found that it was linked to 2 loci, one on 3q and one on 19p. Adato et al. (1999) found this result interesting in relation to their work because one of the regions of linkage, 3q21.3-q25.2, included the USH3 locus, and the other, 19p13.3-p13.1, included among others the MYO1F gene (601480), which codes for another member of the unconventional myosin group. </p>
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<h4>
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<strong>Animal Model</strong>
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<p>Shaker-1 (sh1) homozygous mice show hyperactivity, head-tossing and circling due to vestibular dysfunction, as well as neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti. Gibson et al. (1995) described 3 different mutations in the Myo7a gene that segregated with the disorder in mice. All the mutations were located in the region encoding the myosin head. The sh1 phenotype differs from that of Usher syndrome in humans by the absence of retinal degeneration. Weil et al. (1995) noted that one form of human neurosensory recessive deafness without retinal dystrophy, DFNB2, maps to 11q in the same general region as USH1B and may represent the human equivalent of sh1. </p><p>Liu et al. (1998) demonstrated that mutant Myo7a causes defective distribution of melanosomes in the retinal pigment epithelium (RPE) of shaker-1 mice. Mutant Myo7a was targeted correctly in the RPE, but localization of melanosomes in the apical processes of these epithelial cells depended on proper Myo7A function. Thus, in the RPE, Myo7a has a function similar to that of myosin V (MYPO5A; 160777), another large unconventional myosin that is necessary for melanosome localization in the dendrites of melanocytes. Given the putative motor properties of Myo7a, it was plausible that melanosomes may be transported along the RPE apical processes as cargo of the molecule. </p><p>The zebrafish (Danio rerio) possesses 2 mechanosensory organs believed to be homologous to each other: the inner ear, which is responsible for the senses of audition and equilibrium, and the lateral line organ, which is involved in the detection of water movements. Eight zebrafish circler or auditory/vestibular mutants appear to have defects specific to sensory hair cell function. The circler genes may therefore encode components of the mechanotransduction apparatus and/or be the orthologous counterparts of the genes underlying human hereditary deafness. Ernest et al. (2000) determined that the phenotype of the circler mutant, mariner, is due to mutations in the zebrafish Myo7a homolog. Mariner sensory hair cells displayed morphologic and functional defects similar to those present in mouse shaker-1 hair cells. The findings demonstrated the striking conservation of the function of myosin VIIA throughout vertebrate evolution. </p><p>In studies of mouse photoreceptor cells with mutant Myo7a, Liu et al. (1999) presented evidence that myosin VIIa functions in the connecting cilium of photoreceptor cells and participates in the transport of opsin (RHO; 180380). The findings provided the first direct evidence that opsin travels along the connecting cilium en route to the outer segment and demonstrated that myosin may function in these cilium. Accordingly, abnormal opsin transport may contribute to blindness in Usher syndrome. </p><p>Boeda et al. (2001) generated lines of transgenic mice expressing the green fluorescent protein (GFP) reporter gene under the control of several 5-prime-truncated versions of the Myo7a/MYO7A promoter region and intron 1. They obtained transgenic mice with a GFP expression restricted to the hair cells of the inner ear, cochlea, and vestibule. Successive deletions of the promoter defined a minimal sequence of 118 bp that was sufficient, in the presence of intron 1, to target the transgene expression to hair cells. In addition, the deletion of intron 1 from the transgenes abolished hair cell expression, thus indicating the presence of a strong enhancer in the intron. The authors reported that regulatory sequences were sufficient to target the expression of a gene exclusively in sensory cells of the inner ear. </p><p>To elucidate the role of myosin VIIa in the retina and the basis of photoreceptor degeneration in USH1B patients, Gibbs et al. (2003) studied mutant phenotypes in the retinas of shaker-1 mice. They reported that the phagocytosis of photoreceptor outer segment discs by the RPE was abnormal in Myo7a-null mice. Both in vivo and in primary cultures of RPE cells, the transport of ingested discs out of the apical region was inhibited in the absence of Myo7a. The results with the cultured RPE cells were the same, irrespective of whether the discs came from wildtype or mutant mice, which demonstrated that the RPE is the source of this defect. The inhibited transport seemed to delay phagosome-lysosome fusion, as the degradation of ingested discs was slower in mutant RPE. Moreover, fewer packets of disc membranes were ingested in vivo, possibly because retarded removal of phagosomes from the apical processes inhibited the ingestion of additional disc membranes. Gibbs et al. (2003) concluded that myosin VIIa is required for the normal processing of ingested disc membranes in the RPE, primarily in the basal transport of phagosomes into the cell body where they then fuse with lysosomes. Because the phagocytosis of photoreceptor discs by the RPE had been shown to be critical for photoreceptor cell viability, the authors suggested that this defect likely contributes to the progressive blindness in USH1B. </p><p>The MYO15 (602666), MYO6 (600970), and MYO7A genes are essential for hearing in both humans and mice. Despite widespread expression, homozygosity for mutations in these genes only results in auditory or ocular dysfunction. The pirouette (pi) mouse exhibits deafness and inner ear pathology resembling that of Myo15 mutant mice. Karolyi et al. (2003) crossed Myo15 mutant mice to Myo6, Myo7a, and pi mutant mouse strains. Viable double-mutant homozygotes were obtained from each cross, and hearing in doubly heterozygous mice was similar to singly heterozygous mice. All critical cell types of the cochlear sensory epithelium were present in double-mutant mice, and cochlear stereocilia exhibited a superimposition of single-mutant phenotypes. Karolyi et al. (2003) suggested that the function of Myo15 is distinct from that of Myo6, Myo7a, or pi in development and/or maintenance of stereocilia. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>21 Selected Examples):</strong>
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</h4>
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<h4>
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<span class="mim-font">
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<strong>.0001 USHER SYNDROME, TYPE IB</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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MYO7A, ARG150TER
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<br />
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SNP: rs121965079,
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gnomAD: rs121965079,
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ClinVar: RCV000012621, RCV000036148, RCV001390811, RCV004786253
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<span class="mim-text-font">
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<p>In affected members of a family with Usher syndrome type IB (USH1B; 276900), Weil et al. (1995) identified compound heterozygosity for 2 mutations in the MYO7A gene: a 163C-T transition in exon 1 resulting in an arg150-to-ter (R150X) substitution, and a 6-bp deletion (276903.0003). The R150X protein was predicted to be truncated before the ATP-binding site. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 USHER SYNDROME, TYPE IB</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, GLN234TER
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<br />
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SNP: rs41298133,
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gnomAD: rs41298133,
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ClinVar: RCV000012622, RCV000036246, RCV000669392, RCV001003081, RCV001390813, RCV001807725
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a family with Usher syndrome type IB (USH1B; 276900), Weil et al. (1995) identified a heterozygous C-to-T transition in exon 3 of the MYO7A gene, resulting in a gln234-to-ter (Q234X) substitution and truncation of the protein before the actin-binding site. </p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 USHER SYNDROME, TYPE IB</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, 6-BP DEL, EX3
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<br />
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SNP: rs1555062984,
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ClinVar: RCV000012623
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of 2 unrelated families with Usher syndrome type IB (USH1B; 276900), Weil et al. (1995) identified the same in-frame 6-bp deletion (GACACT) in exon 3 of the MYO7A gene at codon 217, leading to loss of amino acid residues asp (D) and ile (I). In 1 family, the 2 affected brothers inherited the deletion mutation from their father and a nonsense mutation (276903.0001) from their mother. The 2 families originated from different geographic regions, suggesting that 2 independent mutational events were responsible for the 6-bp deletion. The deletion occurred in an 11-bp sequence containing two 5-bp direct repeats, and it was considered possible that either replication slippage or slipped-strand mispairing was responsible for the mutational event. </p>
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</span>
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<div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 USHER SYNDROME, TYPE IB</strong>
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</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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MYO7A, ARG212HIS
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<br />
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|
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SNP: rs28934610,
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gnomAD: rs28934610,
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ClinVar: RCV000012624, RCV000036232, RCV000665766, RCV001073914, RCV001221383, RCV003389443, RCV004786254
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|
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|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In individuals with Usher syndrome type IB (USH1B; 276900), Weil et al. (1995) identified a G-to-A transition in exon 7 of the MYO7A gene, resulting in an arg212-to-his (R212H) substitution. </p><p>Weston et al. (1996) stated that R212H and R212C (276903.0005) accounted for 8 of 23 mutant alleles from 20 probands in their study of USH1B. On 3 alleles (once in heterozygosity and once in homozygosity), the R212H mutation occurred in cis with an R302H (276903.0006) mutation in exon 9. Affected sibs in a Dutch family were homozygous for the double mutation at both codons, while the affected sibs in a Finnish family showed only paternal inheritance of both mutations. Both R302H and R212H were observed singly in affected persons; neither had been observed in controls, either singly or as double mutations. Although these 3 mutations were the most common ones observed, comprising approximately 50% of all mutations found, they still represented less than 3% of the total USH1B chromosomes studied. Furthermore, no linkage disequilibrium between USH1B and several adjacent polymorphic markers was found, suggesting that there are several independently occurring mutations rather than a common USH1B allele. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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|
<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 USHER SYNDROME, TYPE IB</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, ARG212CYS
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<br />
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SNP: rs121965080,
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ClinVar: RCV000012625, RCV001047241, RCV005007838
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|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In affected members of a family segregating Usher syndrome type IB (USH1B; 276900), Weil et al. (1995) identified a C-to-T transition in exon 7 in the MYO&A gene, resulting in an arg212-to-cys (R212C; 276903.0005) substitution. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 USHER SYNDROME, TYPE IB</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
MYO7A, ARG302HIS
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|
<br />
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|
|
SNP: rs41298135,
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|
|
gnomAD: rs41298135,
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|
ClinVar: RCV000012626, RCV000036251, RCV000282374, RCV000337254, RCV000386045, RCV000758141, RCV000835045, RCV002490355, RCV004814885
|
|
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|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Weston et al. (1996) identified an arg302-to-his (R302H) mutation in the MYO7A gene in individuals with Usher syndrome type IB (USH1B; 276900), on 2 alleles in heterozygosity and on 3 alleles (once in heterozygosity and once in homozygosity) in cis with the R212H mutation (see 276903.0004). Both R302H and R212H were observed singly in affected persons; neither had been observed in controls, either singly or as double mutations. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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MYO7A, ARG244PRO
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<br />
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|
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SNP: rs121965081,
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gnomAD: rs121965081,
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|
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ClinVar: RCV000012627, RCV003492291
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|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Liu et al. (1997) found mutations in the MYO7A gene in 2 of 8 families with autosomal recessive nonsyndromic deafness (DFNB2; 600060) from the Sichuan province of China. In 1 family, 3 affected sibs were homozygous for an arg244-to-pro (R244P) substitution. </p><p>Riazuddin et al. (2008) stated that the R244P mutation is located in the motor domain of the protein. In vitro studies with the mouse ortholog, R233P, showed that the mutant protein did not localize within stereocilia of hair cells, similar to that observed with MYO7A constructs corresponding to Usher syndrome IB (USH1B; 276900) mutants. Although R233P showed normal affinity to actin filaments, the ATPase rate was decreased compared to wildtype. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, IVS3AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs782064437,
|
|
|
|
|
|
gnomAD: rs782064437,
|
|
|
|
|
|
ClinVar: RCV000012628, RCV000671659, RCV001383043, RCV001830451, RCV004527727
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Chinese family with nonsyndromic autosomal recessive deafness (DFNB2; 600060), Liu et al. (1997) found that 2 sibs were compound heterozygous for an acceptor splice site mutation in intron 3 (IVS3-2A-G) in 1 allele, while the other allele carried a T insertion in exon 28 (276903.0009), val1199insT(fs), leading to a frameshift and stop codon 28 amino acids downstream. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, 1-BP INS, EX28
|
|
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|
|
<br />
|
|
|
|
SNP: rs2135550200,
|
|
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|
|
|
|
ClinVar: RCV000012629
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the T insertion in exon 28 of the MYO7A gene that was found in compound heterozygous state in a Chinese family with nonsyndromic autosomal recessive deafness (DFNB2; 600060) by Liu et al. (1997), see 276903.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
USHER SYNDROME, TYPE IB, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, MET599ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121965082,
|
|
|
|
|
|
|
|
ClinVar: RCV000012630, RCV000012631
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large consanguineous family from Tunisia in which 22 members were originally reported to have autosomal recessive sensorineural deafness (DFNB2; 600060) (Guilford et al., 1994), Weil et al. (1997) identified a homozygous G-to-A transition at the last nucleotide of exon 15 in the MYO7A gene, resulting in a met599-to-ile (M599I) substitution. The mutation was not detected in 100 unaffected individuals living in the same Tunisian region who were not related to the affected family. </p><p>Zina et al. (2001) reevaluated the family reported by Guilford et al. (1994) and Weil et al. (1997). Since the original reports, 5 patients had developed mild retinal degeneration in addition to the progressive deafness. Fundus examination of 1 patient showed spicule pigmentary changes consistent with retinal dystrophy. Another previously unaffected family member, homozygous for the mutation, had retinitis pigmentosa. Seven patients had abnormal vestibular function as assessed by caloric tests. Zina et al. (2001) concluded that some patients in this Tunisian family had features consistent with Usher syndrome type IB (USH1B; 276900). The findings suggested that other factors must modulate the expression of the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 DEAFNESS, AUTOSOMAL DOMINANT 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, 9-BP DEL, EX22
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2135478294,
|
|
|
|
|
|
|
|
ClinVar: RCV000012632
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese family with autosomal dominant nonsyndromic hearing loss mapping to 11q (DFNA11; 601317), Liu et al. (1997) demonstrated an in-frame 9-bp deletion in exon 22 of the MYO7A gene, leading to deletion of 3 amino acids (ala886-lys887-lys888) in the coiled-coil region of the protein. All affected members of the family had postlingual bilateral sensorineural hearing loss with subsequent gradual progression. This was the first mutation identified in the coiled-coiled region, which is thought to be responsible for dimerization of the molecule. Liu et al. (1997) postulated that the mutant protein interacted with the wildtype protein, resulting in a dominant-negative effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 USHER SYNDROME, TYPE IB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, CYS628TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121965083,
|
|
|
|
|
|
|
|
ClinVar: RCV000012633, RCV002512985
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of a Spanish family with Usher syndrome type IB (USH1B; 276900), Cuevas et al. (1998) identified a homozygous C-to-A transversion in exon 16 of the MYO7A gene, resulting in a cys628-to-ter (C682X) substitution. The mutation segregated with the phenotype in the family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 USHER SYNDROME, TYPE IB</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, CYS31TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs35689081,
|
|
|
|
|
|
gnomAD: rs35689081,
|
|
|
|
|
|
ClinVar: RCV000012634, RCV000154341, RCV000665804, RCV000787856, RCV001226256, RCV001291462
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 of 12 mutant alleles in 6 patients from Denmark with Usher syndrome type IB (USH1B; 276900), Janecke et al. (1999) identified a C-to-A transversion in exon 3 of the MYO7A gene, resulting in a cys31-to-ter (C31X) substitution. Although the families were not known to be related, genotyping for 6 intragenic polymorphisms suggested that the 9 mutation-bearing chromosomes originated from the same ancestor. Weston et al. (1996) had detected the same C31X mutation in a proband from Sweden and in a proband of Scandinavian ancestry from the United States. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, 1-BP DEL AND LEU1087PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs375050157,
|
|
|
|
|
|
gnomAD: rs375050157,
|
|
|
|
|
|
ClinVar: RCV000012637
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its contribution to Usher syndrome has not been confirmed.</p><p>Adato et al. (1999) suggested that digenic inheritance might be operative in a Yemenite family in which 2 of 8 children had Usher syndrome. Two affected brothers in this family had different Usher syndrome phenotypes. One had a typical USH1 phenotype (276900): he had a history of prelingual profound auditory impairment; he used sign language for communication, since hearing aids were unhelpful in his case; and developmental milestones in his childhood were consistent with congenital vestibular dysfunction. The other affected brother had a typical USH3 phenotype (276902): he had progressive hearing loss, with postlingual onset; he used hearing aids and verbal communication; and he received psychiatric therapy for mental problems. Both brothers had bilateral progressive pigmentary retinopathy, with onset during early adolescence. In both affected brothers, Adato et al. (1999) found homozygosity for a haplotype consistent with a location on chromosome 3, where the USH3 gene is located. Since one of the affected brothers had a USH1 phenotype, family members were screened for mutations in the MYO7A gene. On 1 maternal chromosome, transmitted to the brother with the USH1 phenotype and to 2 unaffected sibs, but not to the brother with the USH3 phenotype, they found a double mutation: a T-to-C transition in exon 25 of the MYO7A gene, predicted to cause a leu1087-to-pro (L1087P) substitution; and a guanine deletion 5 nucleotides upstream of this transition, predicted to cause a frameshift of the reading frame starting at codon 1089. This frameshift would result in the formation of a UGA stop codon 18 amino acids downstream from the deletion site and, therefore, in the translation of a truncated protein that lacked more than 50% of its normal amino acid sequence, which comprises most of the MYO7A tail domain. Segregation of the mutated MYO7A with healthy family members as well as with the more severe USH phenotype suggested a possible biologic interaction between MYO7A and the USH3 gene products. The mutated MYO7A appeared to be phenotypically expressed only on the background of 2 USH3 alleles. Adato et al. (2002) restudied the Jewish Yemenite family previously reported by Adato et al. (1999) and identified homozygosity for a 23-bp deletion in the CLRN1 gene (606397.0007) in the affected brothers. The authors stated that this represented a departure from the monogenic model for Usher syndrome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 DEAFNESS, AUTOSOMAL DOMINANT 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYO7A, ASN458ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121965084,
|
|
|
|
|
|
gnomAD: rs121965084,
|
|
|
|
|
|
ClinVar: RCV000012638, RCV001723559
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness (DFNA11; 601317), Luijendijk et al. (2004) identified a heterozygous 1373A-T transversion in exon 13 of the MYO7A gene, resulting in an asn458-to-ile (N458I) substitution. In a molecular model, the mutant protein was predicted to disrupt ATP binding and impair the myosin power stroke. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 USHER SYNDROME, TYPE IB</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, ARG666TER
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<br />
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SNP: rs121965085,
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gnomAD: rs121965085,
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ClinVar: RCV000012635, RCV000151490, RCV000669149, RCV001091731, RCV002490356
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Through a systematic mutation screening of the genes known to cause type I Usher syndrome in patients from the U.S. and U.K., Ouyang et al. (2005) identified a 1996C-T transition in exon 17 of the MYO7A gene, resulting in an arg666-to-ter nonsense mutation (R666X). The mutation was predicted to truncate myosin VIIA by approximately 90%. Of the 12 mutations detected by Ouyang et al. (2005) at the MYO7A locus in patients with type I Usher syndrome (USH1B; 276900), 5 of 21 alleles (23.8%) were R666X. A G-C transversion within the splice acceptor site of intron 27 (276903.0017) accounted for 3 of 21 alleles (14.3%). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0017 USHER SYNDROME, TYPE IB</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, IVS27AS, G-C, -1
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<br />
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ClinVar: RCV000012636
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Of the 12 mutations detected by Ouyang et al. (2005) at the MYO7A locus in patients with type I Usher syndrome (USH1B; 276900), a G-C transversion within the splice acceptor site of intron 27 accounted for 3 of 21 alleles (14.3%). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0018 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, 3-BP DEL, 5146GAG
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<br />
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SNP: rs1555102843,
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ClinVar: RCV000012639, RCV003230352, RCV004795396
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of a consanguineous Pakistani family with autosomal recessive deafness (DFNB2; 600060), Riazuddin et al. (2008) identified a homozygous 3-bp deletion (5146delGAG) in exon 37 of the MYO7A gene, resulting in an in-frame loss of a conserved glutamate residue at codon 1716. This residue is located in the tail region between the SH3 domain and the second MyTH4 domain. In vitro studies targeting the homologous mutant 5146delGAG protein in cultured mouse cells indicated that the protein localized along the length of inner ear hair cell stereocilia similar to the wildtype protein. Similar studies with truncating MYO7A mutations resulting in Usher syndrome IB (USH1B; 276900) showed no localization to stereocilia. Riazuddin et al. (2008) concluded that the mutation in this family caused a less severe phenotype compared to that of Usher syndrome IB because of residual protein function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 DEAFNESS, AUTOSOMAL DOMINANT 11</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, ASP218ASN
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<br />
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SNP: rs201539845,
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gnomAD: rs201539845,
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ClinVar: RCV000022815, RCV000215956, RCV000822163, RCV001275897, RCV002251923, RCV005007888
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a Chinese family with autosomal dominant nonsyndromic deafness-11 (DFNA11; 601317), Sun et al. (2011) identified a heterozygous 652G-A transition in exon 7 of the MYO7A gene, resulting in an asp218-to-asn (D218N) substitution in a conserved residue in the motor domain. The mutation was not found in 100 controls. Affected individuals had onset between ages 20 and 47 years of bilateral mild to severe symmetric hearing impairment particularly involving high frequencies. The audiogram was flat or downward sloping. Tinnitus occurred before hearing loss, but there was no vestibular involvement. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0020 DEAFNESS, AUTOSOMAL DOMINANT 11</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, GLY671SER
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<br />
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SNP: rs387906699,
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ClinVar: RCV000022816, RCV000151492
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In affected members of a Chinese family with autosomal dominant nonsyndromic deafness-11 (DFNA11; 601317), Sun et al. (2011) identified a heterozygous 2011G-A transition in exon 17 of the MYO7A gene, resulting in a gly671-to-ser (G671S) substitution in a conserved residue in the region of the myosin head converter domain. Affected individuals had onset between ages 10 and 39 years of bilateral mild to severe symmetric hearing loss affecting mainly low frequencies. The audiogram was flat or ascending. Tinnitus occurred before hearing loss, but there was no vestibular involvement. Electrocochleography in this family showed no evidence of endolymphatic hydrops. Molecular modeling suggested that the substituted serine side chain projects into a conserved hydrophobic pocket in the converter domain and relay loop of this region, generating steric hindrance with neighboring amino acid tyr477. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0021 DEAFNESS, AUTOSOMAL RECESSIVE 2</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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MYO7A, ARG395HIS
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<br />
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SNP: rs387906700,
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gnomAD: rs387906700,
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|
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ClinVar: RCV000022817, RCV001852003, RCV003317043
|
|
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|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs, born of consanguineous Iranian parents, with autosomal recessive deafness-2 (DFNB2; 600060), Hildebrand et al. (2010) identified a homozygous 1184G-A transition in exon 11 of the MYO7A gene, resulting in an arg395-to-his (R395H) substitution in a highly conserved residue in the motor domain of the protein. The mutation was not found in 94 Iranian control chromosomes or in 258 control chromosomes. Onset of hearing loss occurred between ages 7 months and 7 years. Audiologic testing revealed hearing loss at all frequencies, although low frequency hearing was less impaired. All had normal vestibular function, and funduscopic examination and visual acuity tests excluded retinitis pigmentosa in all patients at ages 39, 31, and 42 years, respectively. One patient had a milder phenotype, with later onset and less severe impairment, suggesting the presence of a genetic modifier. The findings confirmed that nonsyndromic hearing loss can be caused by mutation in the MYO7A gene. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M., Bonne-Tamir, B.
|
|
<strong>Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. (Letter)</strong>
|
|
Am. J. Hum. Genet. 65: 261-265, 1999.
|
|
|
|
|
|
[PubMed: 10364543]
|
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|
|
|
|
[Full Text: https://doi.org/10.1086/302438]
|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millan, J. M., Lehesjoki, A.-E., Flannery, J. G., Avraham, K. B., Pietrovski, S., Sankila, E.-M., Beckmann, J. S., Lancet, D.
|
|
<strong>USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.</strong>
|
|
Europ. J. Hum. Genet. 10: 339-350, 2002.
|
|
|
|
|
|
[PubMed: 12080385]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200831]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adato, A., Weil, D., Kalinski, H., Pel-Or, Y., Ayadi, H., Petit, C., Korostishevsky, M., Bonne-Tamir, B.
|
|
<strong>Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.</strong>
|
|
Am. J. Hum. Genet. 61: 813-821, 1997.
|
|
|
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|
|
[PubMed: 9382091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/514899]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bahloul, A., Michel, V., Hardelin, J.-P., Nouaille, S., Hoos, S., Houdusse, A., England, P., Petit, C.
|
|
<strong>Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, for a ternary complex and interact with membrane phospholipids.</strong>
|
|
Hum. Molec. Genet. 19: 3557-3565, 2010.
|
|
|
|
|
|
[PubMed: 20639393]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddq271]
|
|
|
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Balciuniene, J., Dahl, N., Borg, E., Samuelsson, E., Koisti, M. J., Pettersson, U., Jazin, E. E.
|
|
<strong>Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.</strong>
|
|
Am. J. Hum. Genet. 63: 786-793, 1998.
|
|
|
|
|
|
[PubMed: 9718342]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302012]
|
|
|
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boeda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K. R., Shorte, S., Reiners, J., Houdusse, A., Legrain, P., Wolfrum, U., Richardson, G., Petit, C.
|
|
<strong>Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.</strong>
|
|
EMBO J. 21: 6689-6699, 2002.
|
|
|
|
|
|
[PubMed: 12485990]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/emboj/cdf689]
|
|
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|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boeda, B., Weil, D., Petit, C.
|
|
<strong>A specific promoter of the sensory cells of the inner ear defined by transgenesis.</strong>
|
|
Hum. Molec. Genet. 10: 1581-1589, 2001.
|
|
|
|
|
|
[PubMed: 11468276]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/10.15.1581]
|
|
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|
</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, A., Wayne, S., Bell, A., Ramesh, A., Srisailapathy, C. R., Scott, D. A., Sheffield, V. C., Van Hauwe, P., Zbar, R. I., Ashley, J., Lovett, M., Van Camp, G., Smith, R. J.
|
|
<strong>New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.</strong>
|
|
Am. J. Med. Genet. 71: 467-471, 1997.
|
|
|
|
|
|
[PubMed: 9286457]
|
|
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, Z.-Y., Hasson, T., Kelley, P. M., Schwender, B. J., Schwartz, M. F., Ramakrishnan, M., Kimberling, W. J., Mooseker, M. S., Corey, D. P.
|
|
<strong>Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.</strong>
|
|
Genomics 36: 440-448, 1996.
|
|
|
|
|
|
[PubMed: 8884267]
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|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1996.0489]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cuevas, J. M., Espinos, C., Millan, J. M., Sanchez, F., Trujillo, M. J., Garcia-Sandoval, B., Ayuso, C., Najera, C., Beneyto, M.
|
|
<strong>Detection of a novel cys628-to-stop mutation of the myosin VIIA gene in Usher syndrome type Ib.</strong>
|
|
Molec. Cell. Probes 12: 417-420, 1998.
|
|
|
|
|
|
[PubMed: 9843659]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/mcpr.1998.0202]
|
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
El-Amraoui, A., Sahly, I., Picaud, S., Sahel. J., Abitbol, M., Petit, C.
|
|
<strong>Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.</strong>
|
|
Hum. Molec. Genet. 5: 1171-1178, 1996.
|
|
|
|
|
|
[PubMed: 8842737]
|
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|
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|
|
[Full Text: https://doi.org/10.1093/hmg/5.8.1171]
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</p>
|
|
</li>
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|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Ernest, S., Rauch, G.-J., Haffter, P., Geisler, R., Petit, C., Nicolson, T.
|
|
<strong>Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.</strong>
|
|
Hum. Molec. Genet. 9: 2189-2196, 2000.
|
|
|
|
|
|
[PubMed: 10958658]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/9.14.2189]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gibbs, D., Kitamoto, J., Williams, D. S.
|
|
<strong>Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 6481-6486, 2003.
|
|
|
|
|
|
[PubMed: 12743369]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.1130432100]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gibson, F., Walsh, J., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., Brown, S. D. M.
|
|
<strong>A type VII myosin encoded by the mouse deafness gene shaker-1.</strong>
|
|
Nature 374: 62-64, 1995.
|
|
|
|
|
|
[PubMed: 7870172]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/374062a0]
|
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Guilford, P., Ayadi, H., Blanchard, S., Chaib, H., Le Paslier, D., Weissenbach, J., Drira, M., Petit, C.
|
|
<strong>A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.</strong>
|
|
Hum. Molec. Genet. 3: 989-993, 1994.
|
|
|
|
|
|
[PubMed: 7951250]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.6.989]
|
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|
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hildebrand, M. S., Thorne, N. P., Bromhead, C. J., Kahrizi, K., Webster, J. A., Fattahi, Z., Bataejad, M., Kimberling, W. J., Stephan, D., Najmabadi, H., Bahlo, M., Smith, R. J. H.
|
|
<strong>Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.</strong>
|
|
Clin. Genet. 77: 563-571, 2010.
|
|
|
|
|
|
[PubMed: 20132242]
|
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[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01344.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Janecke, A. R., Meins, M., Sadeghi, M., Grundmann, K., Apfelstedt-Sylla, E., Zrenner, E., Rosenberg, T., Gal, A.
|
|
<strong>Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.</strong>
|
|
Hum. Mutat. 13: 133-140, 1999.
|
|
|
|
|
|
[PubMed: 10094549]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karolyi, I. J., Probst, F. J., Beyer, L., Odeh, H., Dootz, G., Cha, K. B., Martin, D. M., Avraham, K. B., Kohrman, D., Dolan, D. F., Raphael, Y., Camper, S. A.
|
|
<strong>Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.</strong>
|
|
Hum. Molec. Genet. 12: 2797-2805, 2003.
|
|
|
|
|
|
[PubMed: 12966030]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddg308]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kelley, P. M., Weston, M. D., Chen, Z.-Y., Orten, D. J., Hasson, T., Overbeck, L. D., Pinnt, J., Talmadge, C. B., Ing, P., Mooseker, M. S., Corey, D., Sumegi, J., Kimberling, W. J.
|
|
<strong>The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).</strong>
|
|
Genomics 40: 73-79, 1997.
|
|
|
|
|
|
[PubMed: 9070921]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1996.4545]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Levy, G., Levi-Acobas, F., Blanchard, S., Gerber, S., Larget-Piet, D., Chenal, V., Liu, X.-Z., Newton, V., Steel, K. P., Brown, S. D. M., Munnich, A., Kaplan, J., Petit, C., Weil, D.
|
|
<strong>Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.</strong>
|
|
Hum. Molec. Genet. 6: 111-116, 1997.
|
|
|
|
|
|
[PubMed: 9002678]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.1.111]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X., Ondek, B., Williams, D. S.
|
|
<strong>Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. (Letter)</strong>
|
|
Nature Genet. 19: 117-118, 1998.
|
|
|
|
|
|
[PubMed: 9620764]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/470]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X., Udovichenko, I. P., Brown, S. D. M., Steel, K. P., Williams, D. S.
|
|
<strong>Myosin VIIa participates in opsin transport through the photoreceptor cilium.</strong>
|
|
J. Neurosci. 19: 6267-6274, 1999.
|
|
|
|
|
|
[PubMed: 10414956]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1523/JNEUROSCI.19-15-06267.1999]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., Brown, S. D. M.
|
|
<strong>Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.</strong>
|
|
Nature Genet. 16: 188-190, 1997.
|
|
|
|
|
|
[PubMed: 9171832]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0697-188]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X.-Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P., Brown, S. D. M.
|
|
<strong>Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. (Letter)</strong>
|
|
Nature Genet. 17: 268-269, 1997.
|
|
|
|
|
|
[PubMed: 9354784]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1197-268]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Luijendijk, M. W. J., van Wijk, E., Bischoff, A. M. L. C., Krieger, E., Huygen, P. L. M., Pennings, R. J. E., Brunner, H. G., Cremers, C. W. R. J., Cremers, F. P. M., Kremer, H.
|
|
<strong>Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).</strong>
|
|
Hum. Genet. 115: 149-156, 2004.
|
|
|
|
|
|
[PubMed: 15221449]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-004-1137-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ouyang, X. M., Yan, D., Du, L. L., Hejtmancik, J. F., Jacobson, S. G., Nance, W. E., Li, A. R., Angeli, S., Kaiser, M., Newton, V., Brown, S. D. M., Balkany, T., Liu, X. Z.
|
|
<strong>Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.</strong>
|
|
Hum. Genet. 116: 292-299, 2005.
|
|
|
|
|
|
[PubMed: 15660226]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-004-1227-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Riazuddin, S., Nazli, S., Ahmed, Z. M., Yang, Y., Zulfiqar, F., Shaikh, R. S., Zafar, A. U., Khan, S. N., Sabar, F., Javid, F. T., Wilcox, E. R., Tsilou, E., Boger, E. T., Sellers, J. R., Belyantseva, I. A., Riazuddin, S., Friedman, T. B.
|
|
<strong>Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.</strong>
|
|
Hum. Mutat. 29: 502-511, 2008.
|
|
|
|
|
|
[PubMed: 18181211]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20677]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sun, Y., Chen, J., Sun, H., Cheng, J., Li, J., Lu, Y., Lu, Y., Jin, Z., Zhu, Y., Ouyang, X., Yan, D., Dai, P., Han, D., Yang, W., Wang, R., Liu, X., Yuan, H.
|
|
<strong>Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.</strong>
|
|
J. Hum. Genet. 56: 64-70, 2011.
|
|
|
|
|
|
[PubMed: 21150918]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/jhg.2010.147]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wang, X., Wang, H., Cao, M., Li, Z., Chen, X., Patenia, C., Gore, A., Abboud, E. B., Al-Rajhi, A. A., Lewis, R. A., Lupski, J. R., Mardon, G., Zhang, K., Muzny, D., Gibbs, R. A., Chen, R.
|
|
<strong>Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.</strong>
|
|
Hum. Mutat. 32: 1450-1459, 2011.
|
|
|
|
|
|
[PubMed: 21901789]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.21587]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weil, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., Kelley, P. M., Kimberling, W. J., Wagenaar, M., Levi-Acobas, F., Larget-Piet, D., Munnich, A., Steel, K. P., Brown, S. D. M., Petit, C.
|
|
<strong>Defective myosin VIIA gene responsible for Usher syndrome type 1B.</strong>
|
|
Nature 374: 60-61, 1995.
|
|
|
|
|
|
[PubMed: 7870171]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/374060a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, M., Ayadi, H., Petit, C.
|
|
<strong>The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.</strong>
|
|
Nature Genet. 16: 191-193, 1997.
|
|
|
|
|
|
[PubMed: 9171833]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0697-191]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weil, D., Levy, G., Sahly, I., Levi-Acobas, F., Blanchard, S., El-Amraoui, A., Crozet, F., Philippe, H., Abitbol, M., Petit, C.
|
|
<strong>Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.
|
|
|
|
|
|
[PubMed: 8622919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.93.8.3232]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z.-Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J.
|
|
<strong>Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.</strong>
|
|
Am. J. Hum. Genet. 59: 1074-1083, 1996.
|
|
|
|
|
|
[PubMed: 8900236]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wu, L., Pan, L., Wei, Z., Zhang, M.
|
|
<strong>Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.</strong>
|
|
Science 331: 757-760, 2011.
|
|
|
|
|
|
[PubMed: 21311020]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1198848]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zina, Z., Masmoudi, S., Ayadi, H., Chaker, F., Ghorbel, A. M., Drira, M., Petit, C.
|
|
<strong>From DFNB2 to Usher syndrome: variable expressivity of the same disease. (Letter)</strong>
|
|
Am. J. Med. Genet. 101: 181-183, 2001.
|
|
|
|
|
|
[PubMed: 11391666]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1335]
|
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|
|
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|
</p>
|
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|
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Marla J. F. O'Neill - updated : 11/2/2012<br>Patricia A. Hartz - updated : 5/2/2012<br>Cassandra L. Kniffin - updated : 12/21/2011<br>Ada Hamosh - updated : 5/6/2011<br>Marla J. F. O'Neill - updated : 5/3/2011<br>Cassandra L. Kniffin - updated : 2/14/2011<br>Cassandra L. Kniffin - reorganized : 10/24/2008<br>Cassandra L. Kniffin - updated : 10/22/2008<br>George E. Tiller - updated : 1/31/2006<br>Victor A. McKusick - updated : 3/31/2005<br>Victor A. McKusick - updated : 7/14/2004<br>Victor A. McKusick - updated : 6/25/2003<br>Patricia A. Hartz - updated : 3/10/2003<br>George E. Tiller - updated : 12/17/2001<br>George E. Tiller - updated : 11/17/2000<br>Victor A. McKusick - updated : 6/30/1999<br>Victor A. McKusick - updated : 3/1/1999<br>Victor A. McKusick - updated : 2/19/1999<br>Victor A. McKusick - updated : 5/27/1998<br>Rebekah S. Rasooly - updated : 3/9/1998<br>Victor A. McKusick - updated : 10/27/1997<br>Victor A. McKusick - updated : 10/17/1997<br>Victor A. McKusick - updated : 6/2/1997<br>Victor A. McKusick - updated : 2/28/1997<br>Moyra Smith - updated : 9/6/1996
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Victor A. McKusick : 1/7/1993
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