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Entry
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- *160775 - MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9
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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">*160775</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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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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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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<li role="presentation">
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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="#cloning">Cloning and Expression</a>
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</li>
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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="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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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 role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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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/160775">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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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=ENSG00000100345;t=ENST00000216181" 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=4627" 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=160775" 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=ENSG00000100345;t=ENST00000216181" 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_002473" 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_002473" 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=160775" 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=01177&isoform_id=01177_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/MYH9" 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/189030,189036,531134,553596,1679804,6166599,12667788,29436380,30268331,34526505,47678583,53791227,60551995,83596182,119580500,119580501,119580502,158256650,166788562,194388398,311643729,972988096,2550219468" 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/P35579" 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=4627" 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=ENSG00000100345;t=ENST00000216181" 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=MYH9" 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=MYH9" 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+4627" 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/MYH9" 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:4627" 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/4627" 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=chr22&hgg_gene=ENST00000216181.11&hgg_start=36281280&hgg_end=36387967&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/gene-dosage/HGNC:7579" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7579" 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/myh9" 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=160775[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=160775[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/MYH9/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/ENSG00000100345" 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=MYH9" 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=MYH9" 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=MYH9" 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="http://webh01.ua.ac.be/hhh/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MYH9&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/PA31377" 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:7579" 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://www.mousephenotype.org/data/genes/MGI:107717" 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/MYH9#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:107717" 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/4627/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/OMIA001608/" 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=4627" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003776;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003776 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003777;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003777 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-5870" 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:4627" 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=MYH9&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 712922002<br />
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">ICD+</a>
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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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160775
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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, HEAVY CHAIN 9, NONMUSCLE; MYH9
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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>
|
|
<span class="mim-font">
|
|
CELLULAR MYOSIN HEAVY CHAIN, TYPE A<br />
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|
MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA<br />
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NONMUSCLE MYOSIN IIA<br />
|
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NMHC IIA
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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=MYH9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MYH9</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>
|
|
Cytogenetic location: <a href="/geneMap/22/222?start=-3&limit=10&highlight=222">22q12.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:36281280-36387967&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'})">22:36,281,280-36,387,967</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<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>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=603622,155100" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/222?start=-3&limit=10&highlight=222">
|
|
22q12.3
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal dominant 17
|
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/603622"> 603622 </a>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p><a href="#39" class="mim-tip-reference" title="Saez, C. G., Myers, J. C., Shows, T. B., Leinwand, L. A. <strong>Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylation.</strong> Proc. Nat. Acad. Sci. 87: 1164-1168, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1967836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1967836</a>] [<a href="https://doi.org/10.1073/pnas.87.3.1164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1967836">Saez et al. (1990)</a> provided a molecular genetic characterization of a human nonmuscle myosin heavy chain expressed in fibroblasts, endothelial cells, and macrophages. The deduced 1,247-amino acid was weakly homologous (33%) to sarcomeric MHC, but about 72% identical to smooth muscle MHC. In contrast to vertebrate sarcomeric MHCs, which generate diversity through the expression of members of a multigene family, an alternative polyadenylation site is used in the nonmuscle MHC gene to generate multiple transcripts that encode the same protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1967836" 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="D'Apolito, M., Guarnieri, V., Boncristiano, M., Zelante, L., Savoia, A. <strong>Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.</strong> Gene 286: 215-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11943476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11943476</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00455-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11943476">D'Apolito et al. (2002)</a> cloned mouse Myh9. The deduced 1,960-amino acid protein shares 98% identity with human MYH9. Northern blot analysis detected abundant Myh9 expression in mouse liver, spleen, lung, and kidney, but not in skeletal muscle or testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11943476" 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="#44" class="mim-tip-reference" title="Toothaker, L. E., Gonzalez, D. A., Tung, N., Lemons, R. S., Le Beau, M. M., Arnaout, M. A., Clayton, L. K., Tenen, D. G. <strong>Cellular myosin heavy chain in human leukocytes: isolation of 5-prime cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation.</strong> Blood 78: 1826-1833, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1912569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1912569</a>]" pmid="1912569">Toothaker et al. (1991)</a> observed that antisera raised against the peptide made from the predicted amino acid sequence specifically reacted with a 224-kD polypeptide in leukocyte cell lines, and the protein was upregulated during the induction of monocytic and granulocytic differentiation in these cells. The cellular myosin heavy chain may be the major contractile protein responsible for movement in myeloid cell lines because no mRNA for sarcomeric myosin heavy chains is detected in these cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1912569" 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>By screening mouse T-cell cDNA for myosin family members, followed by Western blot analysis, <a href="#18" class="mim-tip-reference" title="Jacobelli, J., Chmura, S. A., Buxton, D. B., Davis, M. M., Krummel, M. F. <strong>A single class II myosin modulates T cell motility and stopping, but not synapse formation.</strong> Nature Immun. 5: 531-538, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15064761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15064761</a>] [<a href="https://doi.org/10.1038/ni1065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15064761">Jacobelli et al. (2004)</a> found that Myh9 was the only class II nonmuscle myosin readily and highly detectable. Time-lapse fluorescence microscopy demonstrated that, during T-cell crawling, Myh9 expression was enriched in the uropod. After encounter with antigen on antigen-presenting cells (APCs), Myh9 redistributed to the T-cell-APC interface upon formation of the immunologic synapse. Further imaging and siRNA analysis showed that Myh9 was required for T-cell uropodal morphology, but not for synapse formation. TCR-induced phosphorylation of Myh9 in its multimerization domain indicated that inactivation of the myosin motor may be a key step in the T-cell 'stop' response during antigen recognition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15064761" 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="#5" class="mim-tip-reference" title="Chung, M.-C., Kawamoto, S. <strong>IRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression during phorbol ester-induced promyelocytic HL-60 differentiation.</strong> J. Biol. Chem. 279: 56042-56052, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496418</a>] [<a href="https://doi.org/10.1074/jbc.M404791200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496418">Chung and Kawamoto (2004)</a> identified an intronic region that they designated 32kb-150, located 32 kb downstream of the transcription start sites in the human NMHCA gene, as a transcriptional regulatory region. Among IRF proteins tested, only IRF2 (<a href="/entry/147576">147576</a>) bound to the interferon-stimulated response element (ISRE) within 32kb-150 in vitro and in HeLa cells and mouse fibroblasts. IRF2 acted as a transcriptional activator in a reporter gene assay. The phorbol ester TPA, which triggers differentiation of human promyelocytic HL-60 cells into macrophages, upregulated expression of both NMHCA and IRF2. <a href="#5" class="mim-tip-reference" title="Chung, M.-C., Kawamoto, S. <strong>IRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression during phorbol ester-induced promyelocytic HL-60 differentiation.</strong> J. Biol. Chem. 279: 56042-56052, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15496418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15496418</a>] [<a href="https://doi.org/10.1074/jbc.M404791200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15496418">Chung and Kawamoto (2004)</a> concluded that IRF2 contributes to transcriptional activation of the NMHCA gene via 32kb-150 during TPA-induced differentiation of HL-60 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15496418" 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="#47" class="mim-tip-reference" title="Wilson, C. A., Tsuchida, M. A., Allen, G. M., Barnhart, E. L., Applegate, K. T., Yam, P. T., Ji, L., Keren, K., Danuser, G., Theriot, J. A. <strong>Myosin II contributes to cell-scale actin network treadmilling through network disassembly.</strong> Nature 465: 373-377, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20485438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20485438</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20485438[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/10.1038/nature08994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20485438">Wilson et al. (2010)</a> showed that nonmuscle myosin II has a direct role in actin network disassembly in crawling cells. In fish keratocytes undergoing motility, myosin II is concentrated in regions at the rear with high rates of network disassembly. Activation of myosin II by ATP in detergent-extracted cytoskeletons resulted in rear-localized disassembly of the actin network. Inhibition of myosin II activity and stabilization of actin filaments synergistically impeded cell motility, suggesting the existence of 2 disassembly pathways, one of which requires myosin II activity. <a href="#47" class="mim-tip-reference" title="Wilson, C. A., Tsuchida, M. A., Allen, G. M., Barnhart, E. L., Applegate, K. T., Yam, P. T., Ji, L., Keren, K., Danuser, G., Theriot, J. A. <strong>Myosin II contributes to cell-scale actin network treadmilling through network disassembly.</strong> Nature 465: 373-377, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20485438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20485438</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20485438[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/10.1038/nature08994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20485438">Wilson et al. (2010)</a> concluded that their results established the importance of myosin II as an enzyme for actin network disassembly, and proposed that gradual formation and reorganization of an actomyosin network provides an intrinsic destruction timer, enabling long-range coordination of actin network treadmilling in motile cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20485438" 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="#1" class="mim-tip-reference" title="Arii, J., Goto, H., Suenaga, T., Oyama, M., Kozuka-Hata, H., Imai, T., Minowa, A., Akashi, H., Arase, H., Kawaoka, Y., Kawaguchi, Y. <strong>Non-muscle myoxin IIA is a functional entry receptor for herpes simplex virus-1.</strong> Nature 467: 859-862, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944748</a>] [<a href="https://doi.org/10.1038/nature09420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20944748">Arii et al. (2010)</a> showed that nonmuscle myosin heavy chain IIA (NMHC-IIA), a subunit of nonmuscle myosin IIA (NM-IIA), functions as a herpes simplex virus-1 (HSV-1) entry receptor by interacting with glycoprotein B. A cell line that is relatively resistant to HSV-1 infection became highly susceptible to infection by this virus when NMHC-IIA was overexpressed. Antibody to NMHC-IIA blocked HSV-1 infection in naturally permissive target cells. Furthermore, knockdown of NMHC-IIA in the permissive cells inhibited HSV-1 infection as well as cell-cell fusion when glycoproteins B, D, H, and L were coexpressed. Cell surface expression of NMHC-IIA was markedly and rapidly induced during the initiation of HSV-1 entry. NMHC-IIA is ubiquitously expressed in various human tissues and cell types and, therefore, is implicated as a functional glycoprotein B receptor that mediates broad HSV-1 infectivity both in vitro and in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20944748" 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>Using immunofluorescence microscopy, Western blot analysis, and knockdown strategies with human lung fibroblasts, <a href="#14" class="mim-tip-reference" title="Hanisch, J., Kolm, R., Wozniczka, M., Bumann, D., Rottner, K., Stradal, T. E. B. <strong>Activation of a RhoA/myosin II-dependent but Arp2/3 complex-independent pathway facilitates Salmonella invasion.</strong> Cell Host Microbe 9: 273-285, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21501827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21501827</a>] [<a href="https://doi.org/10.1016/j.chom.2011.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21501827">Hanisch et al. (2011)</a> showed that Salmonella entered nonphagocytic cells by manipulating 2 machineries of actin-based motility in the host: actin polymerization through the ARP2/3 complex (<a href="/entry/604221">604221</a>), and actomyosin-mediated contractility in a myosin IIA- and myosin IIB-dependent manner. <a href="#14" class="mim-tip-reference" title="Hanisch, J., Kolm, R., Wozniczka, M., Bumann, D., Rottner, K., Stradal, T. E. B. <strong>Activation of a RhoA/myosin II-dependent but Arp2/3 complex-independent pathway facilitates Salmonella invasion.</strong> Cell Host Microbe 9: 273-285, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21501827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21501827</a>] [<a href="https://doi.org/10.1016/j.chom.2011.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21501827">Hanisch et al. (2011)</a> concluded that Salmonella entry can be effected independently of membrane ruffling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21501827" 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="#40" class="mim-tip-reference" title="Schramek, D., Sendoel, A., Segal, J. P., Beronja, S., Heller, E., Oristian, D., Reva, B., Fuchs, E. <strong>Direct in vivo RNAi screen unveils myosin IIa as a tumor suppressor of squamous cell carcinomas.</strong> Science 343: 309-313, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24436421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24436421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24436421[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/10.1126/science.1248627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24436421">Schramek et al. (2014)</a> used a direct in vivo RNA interference (RNAi) strategy to screen for genes that upon repression predispose mice to squamous cell carcinomas. Tissue-specific Myh9 RNA interference and Myh9 knockout triggered invasive squamous cell carcinoma formation on tumor-susceptible backgrounds. In human and mouse keratinocytes, myosin IIa's function was manifested not only in conventional actin-related processes but also in regulating posttranscriptional p53 (<a href="/entry/191170">191170</a>) stabilization. Myosin IIa was diminished in human squamous cell carcinomas with poor survival, which suggested that in vivo RNAi technology might be useful for identifying potent but low-penetrance tumor suppressors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24436421" 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="#7" class="mim-tip-reference" title="D'Apolito, M., Guarnieri, V., Boncristiano, M., Zelante, L., Savoia, A. <strong>Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.</strong> Gene 286: 215-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11943476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11943476</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00455-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11943476">D'Apolito et al. (2002)</a> determined that the mouse Myh9 gene, like human MYH9, contains 41 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11943476" 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 Southern analysis of a panel of human-mouse somatic cell hybrids, <a href="#39" class="mim-tip-reference" title="Saez, C. G., Myers, J. C., Shows, T. B., Leinwand, L. A. <strong>Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylation.</strong> Proc. Nat. Acad. Sci. 87: 1164-1168, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1967836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1967836</a>] [<a href="https://doi.org/10.1073/pnas.87.3.1164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1967836">Saez et al. (1990)</a> demonstrated that the nonmuscle MHC gene is located on chromosome 22 and is therefore unlinked to the 2 sarcomeric MHC clusters on chromosomes 14 and 17. A cell line containing a translocation involving chromosome 22 allowed a regional assignment to 22pter-q13. <a href="#44" class="mim-tip-reference" title="Toothaker, L. E., Gonzalez, D. A., Tung, N., Lemons, R. S., Le Beau, M. M., Arnaout, M. A., Clayton, L. K., Tenen, D. G. <strong>Cellular myosin heavy chain in human leukocytes: isolation of 5-prime cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation.</strong> Blood 78: 1826-1833, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1912569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1912569</a>]" pmid="1912569">Toothaker et al. (1991)</a> mapped the gene to 22q12.3-q13.1 by Southern analysis of human/rodent somatic cell hybrids and by in situ hybridization. <a href="#43" class="mim-tip-reference" title="Simons, M., Wang, M., McBride, O. W., Kawamoto, S., Yamakawa, K., Gdula, D., Adelstein, R. S., Weir, L. <strong>Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes.</strong> Circulation Res. 69: 530-539, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1860190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1860190</a>] [<a href="https://doi.org/10.1161/01.res.69.2.530" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1860190">Simons et al. (1991)</a> likewise mapped a nonmuscle myosin heavy chain gene, which they designated NMMHCA, to 22q11.2. A second nonmuscle myosin heavy chain, which they designated NMMHC-B (<a href="/entry/160776">160776</a>), was found to be encoded by a gene on 17q13. Both were 7.5 kb long. In the amino-terminal one-third (amino acids 58-718), they were 89% identical at the amino acid level and 74% identical at the nucleotide level. Muscle myosin heavy chain genes are located on 17p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1967836+1912569+1860190" 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="D'Apolito, M., Guarnieri, V., Boncristiano, M., Zelante, L., Savoia, A. <strong>Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.</strong> Gene 286: 215-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11943476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11943476</a>] [<a href="https://doi.org/10.1016/s0378-1119(02)00455-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11943476">D'Apolito et al. (2002)</a> mapped the mouse Myh9 gene to a region of chromosome 15 that shares homology of synteny with human chromosome 22q12.3-q13.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11943476" 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>Association with Kidney Disease in African Americans</em></strong></p><p>
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In independent genomewide admixture scans to map susceptibility loci for kidney disease in African Americans, <a href="#21" class="mim-tip-reference" title="Kopp, J. B., Smith, M. W., Nelson, G. W., Johnson, R. C., Freedman, B. I., Bowden, D. W., Oleksyk, T., McKenzie, L. M., Kajiyama, H., Ahuja, T. S., Berns, J. S., Briggs, W., and 10 others. <strong>MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.</strong> Nature Genet. 40: 1175-1184, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18794856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18794856</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18794856[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/10.1038/ng.226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18794856">Kopp et al. (2008)</a> and <a href="#19" class="mim-tip-reference" title="Kao, W. H. L., Klag, M. J., Meoni, L. A., Reich, D., Berthier-Schaad, Y., Li, M., Coresh, J., Patterson, N., Tandon, A., Powe, N. R., Fink, N. E., Sadler, J. H., and 19 others. <strong>MYH9 is associated with nondiabetic end-stage renal disease in African Americans.</strong> Nature Genet. 40: 1185-1192, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18794854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18794854</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18794854[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/10.1038/ng.232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18794854">Kao et al. (2008)</a> identified variation at the MYH9 locus as a major factor for the increased risk of nondiabetic kidney disease in this population (FSGS4; <a href="/entry/612551">612551</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18794854+18794856" 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>Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss</em></strong></p><p>
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Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS; <a href="/entry/155100">155100</a>) was previously thought to be 4 distinct giant platelet disorders with overlapping features caused by mutation in the MYH9 gene: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. All 4 were found to represent a single disorder with a continuous clinical spectrum: variable phenotypic expression is observed not only between families but also within families with the same MYH9 mutation (<a href="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" 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 <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> identified 6 heterozygous MYH9 mutations in 7 unrelated probands with one or another of 3 giant platelet disorders: May-Hegglin anomaly (R1933X, <a href="#0001">160775.0001</a> and E1841K, <a href="#0002">160775.0002</a>), Fechtner syndrome (D1424H, <a href="#0005">160775.0005</a> and R792C, <a href="#0006">160775.0006</a>), and Sebastian syndrome (T1155I; <a href="#0007">160775.0007</a>). On the basis of molecular modeling, 2 mutations affecting the myosin head domain were predicted to impose electrostatic and conformational changes, whereas the truncating mutation deleted the unique C-terminal tailpiece. The remaining missense mutations, all affecting highly conserved coiled-coil domain positions, imparted destabilizing electrostatic and polar changes. Thus, the findings demonstrated that mutations in MYH9 result in 3 phenotypically distinct megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts, and nephritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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="Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F. <strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong> Nature Genet. 26: 106-108, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973260</a>] [<a href="https://doi.org/10.1038/79069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973260">Kelley et al. (2000)</a> identified mutations in the MYH9 gene in 10 unrelated patients with May-Hegglin anomaly: E1841K in 5 families, R1933X in 4 families, and T1155I (<a href="#0007">160775.0007</a>) in the last family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973260" 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="#22" class="mim-tip-reference" title="Kunishima, S., Kojima, T., Matsushita, T., Tanaka, T., Tsurusawa, M., Furukawa, Y., Nakamura, Y., Okamura, T., Amemiya, N., Nakayama, T., Kamiya, T., Saito, H. <strong>Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).</strong> Blood 97: 1147-1149, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159552</a>] [<a href="https://doi.org/10.1182/blood.v97.4.1147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159552">Kunishima et al. (2001)</a> found mutations in NMMHCA in 6 of 7 Japanese families with macrothrombocytopenia with leukocyte inclusions: 3 missense mutations, 1 nonsense mutation, and a 1-bp deletion resulting in a premature termination. Immunofluorescence studies showed that NMMHCA distribution in neutrophils mimics the inclusion bodies. These results provided evidence for the involvement of an abnormal form of NMMHCA in the creation of leukocyte inclusions and also in platelet morphogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159552" 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="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al. (2001)</a> examined the spectrum of mutations and the genotype-phenotype and structure-function relationships in a large cohort of 27 individuals with May-Hegglin anomaly, Fechtner syndrome (some cases of which were called Alport-like syndrome with macrothrombocytopenia), or Sebastian syndrome. They found that R702C (<a href="#0006">160775.0006</a>) and R702H (<a href="#0009">160775.0009</a>) mutations in the head domain were associated only with Fechtner syndrome (some cases designated as Alport-like syndrome with macrothrombocytopenia) or Epstein syndrome, thus defining a region of the MYHIIA protein critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness. Mutations in the coiled-coil domain (e.g., R1933X; <a href="#0001">160775.0001</a>) were common to May-Hegglin anomaly and Fechtner syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590545" 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 spectrum of MYH9 mutations responsible for the group of disorders under the general designation autosomal dominant macrothrombocytopenia with leukocyte inclusions, <a href="#23" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Kojima, T., Amemiya, N., Choi, Y. M., Hosaka, N., Inoue, M., Jung, Y., Mamiya, S., Matsumoto, K., Miyajima, Y., Zhang, G., Ruan, C., Saito, K., Song, K. S., Yoon, H.-J., Kamiya, T., Saito, H. <strong>Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.</strong> J. Hum. Genet. 46: 722-729, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11776386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11776386</a>] [<a href="https://doi.org/10.1007/s100380170007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11776386">Kunishima et al. (2001)</a> examined the MYH9 gene in an additional 11 families and 3 sporadic patients with the disorders from Japan, Korea, and China. All 14 patients had heterozygous MYH9 mutations, including 3 known mutations: R1933X (<a href="#0001">160775.0001</a>), R1165C (<a href="#0003">160775.0003</a>), and E1841K (<a href="#0002">160775.0002</a>). Six novel mutations (3 missense and 3 deletion) were also found. Two patients had Alport manifestations including deafness, nephritis, and cataract and had R1165C and E1841K mutations, respectively. However, taken together with 3 previous reports, the data did not show clear phenotype-genotype relationships. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11776386" 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="#17" class="mim-tip-reference" title="Hu, A., Wang, F., Sellers, J. R. <strong>Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function.</strong> J. Biol. Chem. 277: 46512-46517, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12237319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12237319</a>] [<a href="https://doi.org/10.1074/jbc.M208506200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12237319">Hu et al. (2002)</a> noted that 2 disease-causing mutations, N93K (<a href="#0004">160775.0004</a>) and R702C (<a href="#0006">160775.0006</a>), lie within close proximity in the 3-dimensional structure of the head domain of MYH9. They coexpressed recombinant fragments of MYH9 along with the appropriate light chains to create 2-headed meromyosin-like molecules bearing these mutations. The R702C mutant displayed 25% of the maximal MgATPase activity of wildtype heavy meromyosin and moved actin filaments at half the wildtype rate in an in vitro motility assay. Heavy meromyosin containing the N93K mutation had only 4% of the maximal MgATPase activity and did not translocate actin filaments. The characteristics of this mutation were consistent with an inability to fully adopt the 'on' conformation. The N93K mutation was also associated with a tendency for the myosin to aggregate, which may explain the leukocyte inclusions associated with this mutation in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12237319" 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 the proband of the family with macrothrombocytopenia and progressive sensorineural deafness reported by <a href="#4" class="mim-tip-reference" title="Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G. <strong>Macrothrombocytopenia and progressive deafness: a new genetic syndrome.</strong> Am. J. Otol. 13: 507-511, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1449176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1449176</a>]" pmid="1449176">Brodie et al. (1992)</a>, <a href="#32" class="mim-tip-reference" title="Mhatre, A. N., Kim, Y., Brodie, H. A., Lalwani, A. K. <strong>Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.</strong> Otol. Neurotol. 24: 205-209, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12621333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12621333</a>] [<a href="https://doi.org/10.1097/00129492-200303000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12621333">Mhatre et al. (2003)</a> identified a missense mutation in the MYH9 gene (D1424N; <a href="#0010">160775.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12621333+1449176" 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="Kunishima, S., Matsushita, T., Yoshihara, T., Nakase, Y., Yokoi, K., Hamaguchi, M., Saito, H. <strong>First description of somatic mosaicism in MYH9 disorders.</strong> Brit. J. Haemat. 128: 360-365, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15667538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15667538</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05323.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15667538">Kunishima et al. (2005)</a> identified a mutation (<a href="#0011">160775.0011</a>) in a 1-year-old boy with May-Hegglin anomaly resulting from somatic mosaicism in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15667538" 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>By immunofluorescence analysis using a polyclonal antibody against human platelet MYH9, <a href="#24" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Kojima, T., Sako, M., Kimura, F., Jo, E.-K., Inoue, C., Kamiya, T., Saito, H. <strong>Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.</strong> Lab. Invest. 83: 115-122, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12533692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12533692</a>] [<a href="https://doi.org/10.1097/01.lab.0000050960.48774.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12533692">Kunishima et al. (2003)</a> detected abnormal subcellular localization of MYH9 in neutrophils from all 21 patients with MYH9 mutations examined, including a patient with Epstein syndrome. Comparison with May-Grunwald-Giemsa staining revealed that the antibody always coexisted with the neutrophil inclusion bodies, providing proof that MYH9 is associated with such bodies. In some cases, neutrophil inclusions were not detected on conventional May-Grunwald-Giemsa-stained blood smears, but immunofluorescence analysis found the abnormal MYH9 localization. <a href="#24" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Kojima, T., Sako, M., Kimura, F., Jo, E.-K., Inoue, C., Kamiya, T., Saito, H. <strong>Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.</strong> Lab. Invest. 83: 115-122, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12533692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12533692</a>] [<a href="https://doi.org/10.1097/01.lab.0000050960.48774.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12533692">Kunishima et al. (2003)</a> proposed that the mutant MYH9 protein dimerizes with the wildtype protein to form inclusions, consistent with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12533692" 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="Pecci, A., Canobbio, I., Balduini, A., Stefanini, L., Cisterna, B., Marseglia, C., Noris, P., Savoia, A., Balduini, C. L., Torti, M. <strong>Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.</strong> Hum. Molec. Genet. 14: 3169-3178, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162639</a>] [<a href="https://doi.org/10.1093/hmg/ddi344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162639">Pecci et al. (2005)</a> investigated 11 patients from 6 pedigrees with different MYH9 mutations (see, e.g., <a href="#0001">160775.0001</a>-<a href="#0005">160775.0005</a>). NMHC IIA levels were measured in platelets and granulocytes isolated from peripheral blood and in megakaryocytes cultured from circulating progenitors. All patients studied had a 50% reduction of NMHC IIA expression in platelets and megakaryocytes. In subjects with the R1933X (<a href="#0001">160775.0001</a>) and E1945X mutations, the whole NMHC IIA of platelets and megakaryocytes was wildtype. No NMHC IIA inclusions were observed at any time of megakaryocyte maturation. In granulocytes, the extent of NMHC IIA reduction in patients with respect to control cells was significantly greater than that measured in platelets and megakaryocytes; wildtype protein was sequestered within most of the NMHC IIA inclusions. These results indicated that haploinsufficiency of NMHC IIA in megakaryocytic lineage is the mechanism of macrothrombocytopenia consequent to MYH9 mutations, whereas in granulocytes a dominant-negative effect of the mutant allele appeared to be involved in the formation of inclusion bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162639" 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="Balduini, C. L., Pecci, A., Aavoia, A. <strong>Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.</strong> Brit. J. Haemat. 154: 161-174, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21542825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21542825</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2011.08716.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21542825">Balduini et al. (2011)</a> noted that at least 44 different mutations had been identified in 218 unrelated families with MATINS. Of these, 27 are amino acid substitutions affecting 19 of the 1,960 residues of the protein. In 79% of patients, mutations affect only 6 residues: ser96 (6%) and arg702 (24%) in the globular head, arg1165 (9%), asp1424 (20%), and glu1842 (22%) in the coiled-coil domain, or arg1933 (19%) in the nonhelical portion of the tail domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21542825" 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>Deafness, Autosomal Dominant 17</em></strong></p><p>
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<a href="#27" class="mim-tip-reference" title="Lalwani, A. K., Goldstein, J. A., Kelley, M. J., Luxford, W., Castelein, C. M., Mhatre, A. N. <strong>Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.</strong> Am. J. Hum. Genet. 67: 1121-1128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11023810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11023810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11023810[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/10.1016/S0002-9297(07)62942-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11023810">Lalwani et al. (2000)</a> demonstrated heterozygosity for a missense mutation (R705H; <a href="#0008">160775.0008</a>) in the MYH9 gene in affected members of a kindred with deafness (DFNA17; <a href="/entry/603622">603622</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11023810" 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="#16" class="mim-tip-reference" title="Hildebrand, M. S., de Silva, M. G., Gardner, R. J. M., Rose, E., de Graaf, C. A., Bahlo, M., Dahl, H.-H. M. <strong>Cochlear implants for DFNA17 deafness.</strong> Laryngoscope 116: 2211-2215, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17146397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17146397</a>] [<a href="https://doi.org/10.1097/01.mlg.0000242089.72880.f8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17146397">Hildebrand et al. (2006)</a> reported a 5-generation Australian family of Anglo Celtic origin with nonsyndromic DFNA17 caused by heterozygosity for the R705H mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17146397" 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 Brazilian family in which 10 members had nonsyndromic hearing loss at all frequencies, <a href="#8" class="mim-tip-reference" title="Dantas, V. G. L., Lezirovitz, K., Yamamoto, G. L., Moura de Souza, C. F., Ferreira, S. G., Mingroni-Netto, R. C. <strong>c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.</strong> Genet. Molec. Biol. 37: 616-621, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25505834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25505834</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25505834[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/10.1590/S1415-47572014005000025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25505834">Dantas et al. (2014)</a> identified heterozygosity for the same R705H mutation in the MYH9 gene. The mutation segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25505834" 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>From a study of 13 families with macrothrombocytopenia and granulocyte inclusions with or without nephropathy or hearing loss and a review of the literature, <a href="#11" class="mim-tip-reference" title="Dong, F., Li, S., Pujol-Moix, N., Luban, N. L. C., Shin, S. W., Seo, J. H., Ruiz-Saez, A., Demeter, J., Langdon, S., Kelley, M. J. <strong>Genotype-phenotype correlation in MYH9-related thrombocytopenia.</strong> Brit. J. Haemat. 130: 620-627, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098078</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05658.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098078">Dong et al. (2005)</a> suggested that mutation in the C-terminal coiled-coil region or truncation of the tailpiece of the MYH9 gene is associated with a hematologic-only phenotype, whereas mutation of the head ATPase domain is more frequently associated with the additional features of nephropathy and hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098078" 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 study of 108 patients from 50 unrelated pedigrees with MYH9 mutations, <a href="#36" class="mim-tip-reference" title="Pecci, A., Panza, E., Pujol-Moix, N., Klersy, C., Di Bari, F., Bozzi, V., Gresele, P., Lethagen, S., Fabris, F., Dufour, C., Granata, A., Doubek, M., and 14 others. <strong>Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.</strong> Hum. Mutat. 29: 409-417, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18059020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18059020</a>] [<a href="https://doi.org/10.1002/humu.20661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18059020">Pecci et al. (2008)</a> found that 68% of families carried mutations in 1 of 4 residues: 702 in the motor domain (12 families) and residues 1424, 1841, and 1933 in the tail domain (9, 7, and 6 pedigrees, respectively). All subjects with mutations in the motor domain of MYH9 developed severe thrombocytopenia, nephritis, and deafness before the age of 40 years. Patients with mutations at residue 1424 or 1841 had a much lower risk of these complications, significantly higher platelet counts, and an intermediate clinical picture. Patients with mutations at residue 1933 did not develop kidney damage or cataracts but did develop deafness late in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18059020" 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="#30" class="mim-tip-reference" title="Matsushita, T., Hayashi, H., Kunishima, S., Hayashi, M., Ikejiri, M., Takeshita, K., Yuzawa, Y., Adachi, T., Hirashima, K., Sone, M., Yamamoto, K., Takagi, A., Katsumi, A., Kawai, K., Nezu, T., Takahashi, M., Nakashima, T., Naoe, T., Kojima, T., Saito, H. <strong>Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice.</strong> Biochem. Biophys. Res. Commun. 325: 1163-1171, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15555549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15555549</a>] [<a href="https://doi.org/10.1016/j.bbrc.2004.10.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15555549">Matsushita et al. (2004)</a> found that homozygous deletion of Myh9 in mice was embryonic lethal. In contrast, Myh9 +/- mice were viable and fertile without gross anatomic, hematologic, or nephrologic abnormalities. However, auditory brainstem responses indicated that 2 of 6 Myh9 +/- mice had hearing loss. <a href="#34" class="mim-tip-reference" title="Parker, L. L., Gao, J., Zuo, J. <strong>Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.</strong> Brain Res. 1091: 235-242, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16630581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16630581</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.03.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16630581">Parker et al. (2006)</a> also found that homozygous mutations in Myh9 are embryonic lethal in mice. In contrast to the findings of <a href="#30" class="mim-tip-reference" title="Matsushita, T., Hayashi, H., Kunishima, S., Hayashi, M., Ikejiri, M., Takeshita, K., Yuzawa, Y., Adachi, T., Hirashima, K., Sone, M., Yamamoto, K., Takagi, A., Katsumi, A., Kawai, K., Nezu, T., Takahashi, M., Nakashima, T., Naoe, T., Kojima, T., Saito, H. <strong>Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice.</strong> Biochem. Biophys. Res. Commun. 325: 1163-1171, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15555549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15555549</a>] [<a href="https://doi.org/10.1016/j.bbrc.2004.10.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15555549">Matsushita et al. (2004)</a>, <a href="#34" class="mim-tip-reference" title="Parker, L. L., Gao, J., Zuo, J. <strong>Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.</strong> Brain Res. 1091: 235-242, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16630581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16630581</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.03.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16630581">Parker et al. (2006)</a> did not observe hearing loss in Myh9 heterozygous adult mice, despite haploinsufficiency for Myh9 in the mutant mouse inner ear. In addition, aged Myh9 heterozygous mice did not show signs of cochleosaccular degeneration common in DFNA17. <a href="#34" class="mim-tip-reference" title="Parker, L. L., Gao, J., Zuo, J. <strong>Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.</strong> Brain Res. 1091: 235-242, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16630581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16630581</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.03.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16630581">Parker et al. (2006)</a> used a public gene-targeted embryonic stem cell bank resource to generate the mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16630581+15555549" 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="#42" class="mim-tip-reference" title="Seri, M., Savino, M., Bordo, D., Cusano, R., Rocca, B., Meloni, I., Di Bari, F., Koivisto, P. A., Bolognesi, M., Ghiggeri, G. M., Landolfi, R., Balduini, C. L., Zelante, L., Ravazzolo, R., Renieri, A., Savoia, A. <strong>Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.</strong> Hum. Genet. 110: 182-186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11935325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11935325</a>] [<a href="https://doi.org/10.1007/s00439-001-0659-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11935325">Seri et al. (2002)</a> suggested that the R702C (<a href="#0006">160775.0006</a>) mutation is associated with Fechtner syndrome, in which inclusion bodies are found in the leukocytes. Such bodies were said to be absent in Epstein syndrome, and <a href="#42" class="mim-tip-reference" title="Seri, M., Savino, M., Bordo, D., Cusano, R., Rocca, B., Meloni, I., Di Bari, F., Koivisto, P. A., Bolognesi, M., Ghiggeri, G. M., Landolfi, R., Balduini, C. L., Zelante, L., Ravazzolo, R., Renieri, A., Savoia, A. <strong>Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.</strong> Hum. Genet. 110: 182-186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11935325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11935325</a>] [<a href="https://doi.org/10.1007/s00439-001-0659-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11935325">Seri et al. (2002)</a> suggested, on the basis of predictions from molecular modeling of the x-ray crystallographic structure of chick smooth muscle myosin, that the mutated thiol-reactive group of R702C might lead to intermolecular disulfide bridges, with the consequent formation of inclusions typical of Fechtner syndrome. On the contrary, the R702H mutation, they suggested, does not allow the protein to aggregate and thus to generate 'Dohle-like' bodies. It should be pointed out, however, that the kindred (family F) originally described by <a href="#12" class="mim-tip-reference" title="Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R. <strong>Hereditary macrothrombocytopathia, nephritis and deafness.</strong> Am. J. Med. 52: 299-310, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5011389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5011389</a>] [<a href="https://doi.org/10.1016/0002-9343(72)90017-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5011389">Epstein et al. (1972)</a> carried the R702C mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5011389+11935325" 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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<strong>15 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=160775[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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<strong>.0001 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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> rs80338835 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338835;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/rs80338835?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=rs80338835" 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=rs80338835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family used in linkage studies to define the May-Hegglin anomaly (MATINS; <a href="/entry/155100">155100</a>) critical region on chromosome 22 (<a href="#29" class="mim-tip-reference" title="Martignetti, J. A., Heath, K. E., Harris, J., Bizzaro, N., Savoia, A., Balduini, C. L., Desnick, R. J. <strong>The gene for May-Hegglin anomaly localizes to a less than 1-Mb region on chromosome 22q12.3-13.1.</strong> Am. J. Hum. Genet. 66: 1449-1454, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739770</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739770[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/10.1086/302873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10739770">Martignetti et al., 2000</a>), the <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> found that affected individuals had a heterozygous nonsense mutation in codon 1933 of the MYH9 gene, predicting the replacement of an arginine by a stop codon (R1933X) and deletion of the last 28 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10739770+10973259" 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="Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F. <strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong> Nature Genet. 26: 106-108, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973260</a>] [<a href="https://doi.org/10.1038/79069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973260">Kelley et al. (2000)</a> found the R1933X mutation in 4 of 10 families they studied with May-Hegglin anomaly. It was caused by a 5797C-T transition in exon 40. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973260" 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="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al. (2001)</a> identified a heterozygous R1933X mutation in affected members of a family described as having Fechtner syndrome, although deafness and cataract were not present. Another family with the R1933X mutation was described as having May-Hegglin anomaly/Sebastian syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590545" 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="#37" class="mim-tip-reference" title="Rabbolini, D. J., Chun, Y., Latimer, M., Kunishima, S., Fixter, K., Valecha, B., Tan, P., Chew, L. P., Kile, B. T., Burt, R., Radhakrishnan, K., Bird, R., Ockelford, P., Gabrielli, S., Chen, Q., Stevenson, W. S., Ward, C. M., Morel-Koop, M.-C. <strong>Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.</strong> Platelets 29: 793-800, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29090586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29090586</a>] [<a href="https://doi.org/10.1080/09537104.2017.1356920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29090586">Rabbolini et al. (2018)</a> reported 2 Australian patients with macrothrombocytopenia and granulocyte inclusions who were heterozygous for the R1933X mutation; one of the patients also had renal impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29090586" 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>.0002 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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">rs80338834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338834;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=rs80338834" 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=rs80338834" 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=RCV000015119 OR RCV000790361 OR RCV001310800 OR RCV002466403 OR RCV004798729" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015119, RCV000790361, RCV001310800, RCV002466403, RCV004798729" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015119...</a>
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<p>In 2 unrelated families with May-Hegglin anomaly (MATINS; <a href="/entry/155100">155100</a>), the <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> found that affected individuals had the same missense mutation, glu1841 to lys (E1841K), within the coiled-coil domain of the MYH9 protein. The missense mutation was caused by a G-to-A transition at nucleotide 5521 in exon 38. Neither family history nor haplotype analysis suggested common ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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="Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F. <strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong> Nature Genet. 26: 106-108, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973260</a>] [<a href="https://doi.org/10.1038/79069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973260">Kelley et al. (2000)</a> found the E1841K mutation in 5 of 10 families studied with May-Hegglin anomaly and commented that it occurs at a conserved site in the rod domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973260" 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="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al. (2001)</a> identified a heterozygous E1841K mutation in 2 unrelated families with Fechtner syndrome. One of the families had been reported by <a href="#38" class="mim-tip-reference" title="Rocca, B., Laghi, F., Zini, G., Maggiano, N., Landolfi, R. <strong>Fechtner syndrome: report of a third family and literature review.</strong> Brit. J. Haemat. 85: 423-426, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8280620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8280620</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1993.tb03193.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8280620">Rocca et al. (1993)</a>; in this 4-generation family, only some affected members had 'Alport-like' symptoms, such as deafness, nephritis, and cataracts, consistent with 'reduced expression of Alport manifestations.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8280620+11590545" 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">rs80338829 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338829;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=rs80338829" 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=rs80338829" 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=RCV000015121 OR RCV000790357 OR RCV001092004 OR RCV001270614 OR RCV001542710 OR RCV005025055" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015121, RCV000790357, RCV001092004, RCV001270614, RCV001542710, RCV005025055" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015121...</a>
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<p>In a family diagnosed with Sebastian syndrome (MATINS; <a href="/entry/155100">155100</a>), the <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> found that affected individuals had a heterozygous 3493C-T transition in the MYH9 gene, resulting in an arg1165-to-cys (R1165C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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>.0004 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS</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> rs121913655 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913655;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/rs121913655?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=rs121913655" 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=rs121913655" 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=RCV000015122 OR RCV000790350" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015122, RCV000790350" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015122...</a>
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<p>In a family with May-Hegglin anomaly (MATINS; <a href="/entry/155100">155100</a>), the <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> found that the proband had a heterozygous 279C-G transversion in the MYH9 gene, resulting in an asn93-to-lys (N93K) substitution within the globular head domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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>.0005 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH NEPHRITIS AND SENSORINEURAL HEARING LOSS</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">rs80338831 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338831;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=rs80338831" 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=rs80338831" 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=RCV000032223" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032223" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032223</a>
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<p>In a family with Fechtner syndrome (MATINS; <a href="/entry/155100">155100</a>) that had been used to define the critical Fechtner syndrome mapping region (<a href="#6" class="mim-tip-reference" title="Cusano, R., Gangarossa, S., Forabosco, P., Caridi, G., Ghiggeri, G. M., Russo, G., Iolascon, A., Ravazzolo, R., Seri, M. <strong>Localisation of the gene responsible for Fechtner syndrome in a region less than 600 Kb on 22q11-q13.</strong> Europ. J. Hum. Genet. 8: 895-899, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11093280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11093280</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200533" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11093280">Cusano et al., 2000</a>), the <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> found that all affected individuals had a missense mutation in codon 1424 (asp1424 to his; D1424H) within the coiled-coil domain of the MYH9 protein. The mutation resulted from a G-to-C transversion at nucleotide 4270. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11093280+10973259" 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 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</strong>
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MYH9, ARG702CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338826;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=rs80338826" 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=rs80338826" 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=RCV000015129 OR RCV000523446 OR RCV000790354 OR RCV002490369 OR RCV003147289" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015129, RCV000523446, RCV000790354, RCV002490369, RCV003147289" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015129...</a>
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<p>The <a href="#31" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. <strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong> Nature Genet. 26: 103-105, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>] [<a href="https://doi.org/10.1038/79063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> found that a sporadic case of Fechtner syndrome (MATINS; <a href="/entry/155100">155100</a>) (<a href="#33" class="mim-tip-reference" title="Moxey-Mims, M. M., Young, G., Silverman, A., Selby, D. M., White, J. G., Kher, K. K. <strong>End-stage renal disease in two pediatric patients with Fechtner syndrome.</strong> Pediat. Nephrol. 13: 782-786, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10603121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10603121</a>] [<a href="https://doi.org/10.1007/s004670050700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10603121">Moxey-Mims et al., 1999</a>) had a missense mutation in codon 702 (arg702 to cys; R702C) of the MYH9 protein, altering the globular head domain. The mutation, which resulted from a C-to-T transition at nucleotide 2104, was not present in either ascertained parent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10603121+10973259" 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 1 of the original families (family F) with Epstein syndrome described by <a href="#12" class="mim-tip-reference" title="Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R. <strong>Hereditary macrothrombocytopathia, nephritis and deafness.</strong> Am. J. Med. 52: 299-310, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5011389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5011389</a>] [<a href="https://doi.org/10.1016/0002-9343(72)90017-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5011389">Epstein et al. (1972)</a>, <a href="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al. (2001)</a> found a transition in exon 16 of the MYH9 gene converting codon 702 from CGT (arg) to TGT (cys). <a href="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al. (2001)</a> found that the R702C mutation was one of the most frequent, being found in 6 of the 20 families in which they identified a specific mutation. All of the families represented Fechtner syndrome. There was no mention of leukocyte inclusions in the original work-up of this family. For logistic reasons it had been impossible to get a more recent blood sample for checking (<a href="#13" class="mim-tip-reference" title="Epstein, C. J. <strong>Personal Communication.</strong> San Francisco, Ca. 4/16/2002."None>Epstein, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5011389+11590545" 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="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al. (2003)</a> identified a heterozygous R702C mutation in a patient with sporadic Fechtner syndrome, 2 unrelated patients with sporadic Epstein syndrome, a patient with sporadic May-Hegglin anomaly, and in affected members of a family with May-Hegglin anomaly and Sebastian syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" 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 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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">rs121913656 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913656;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=rs121913656" 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=rs121913656" 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=RCV000015124 OR RCV002513057" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015124, RCV002513057" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015124...</a>
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<p><a href="#20" class="mim-tip-reference" title="Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F. <strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong> Nature Genet. 26: 106-108, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973260</a>] [<a href="https://doi.org/10.1038/79069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973260">Kelley et al. (2000)</a> observed a family in which mother and daughter had May-Hegglin anomaly (MATINS; <a href="/entry/155100">155100</a>) caused by a thr1155-to-ile (T1155I) mutation in the MYH9 gene resulting from a C-to-T transition at nucleotide 3464. The mutation was not present in the mother's parents, thus representing a new mutation. <a href="#20" class="mim-tip-reference" title="Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F. <strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong> Nature Genet. 26: 106-108, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973260</a>] [<a href="https://doi.org/10.1038/79069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973260">Kelley et al. (2000)</a> commented that the T1155I mutation occurs at a conserved site in the rod domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973260" 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 2 affected individuals from a family with Fechtner syndrome, <a href="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al. (2003)</a> identified a heterozygous T1155I mutation. <a href="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al. (2003)</a> concluded that May-Hegglin anomaly and Fechtner syndrome are not distinct entities, but rather represent a single disease with a continuous clinical spectrum. The common abnormality is macrothrombocytopenia and abnormal distribution of MYH9 within leukocytes, even in those without classic Dohle bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" 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">rs80338828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338828;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=rs80338828" 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=rs80338828" 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=RCV000015130 OR RCV000032218 OR RCV001659697 OR RCV005031440" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015130, RCV000032218, RCV001659697, RCV005031440" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015130...</a>
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<p>In affected members of a 5-generation family with autosomal dominant deafness characterized by progressive hearing impairment and cochleosaccular degeneration (DFNA17; <a href="/entry/603622">603622</a>) previously described by <a href="#28" class="mim-tip-reference" title="Lalwani, A. K., Linthicum, F. H., Wilcox, E. R., Moore, J. K., Walters, F. C., San Agustin, T. B., Mislinski, J., Miller, M. R., Sinninger, Y., Attaie, A., Luxford, W. M. <strong>A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.</strong> Audiol. Neurootol. 2: 139-154, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9390828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9390828</a>] [<a href="https://doi.org/10.1159/000259237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9390828">Lalwani et al. (1997)</a>, <a href="#27" class="mim-tip-reference" title="Lalwani, A. K., Goldstein, J. A., Kelley, M. J., Luxford, W., Castelein, C. M., Mhatre, A. N. <strong>Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.</strong> Am. J. Hum. Genet. 67: 1121-1128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11023810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11023810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11023810[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/10.1016/S0002-9297(07)62942-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11023810">Lalwani et al. (2000)</a> found a G-to-A transition at nucleotide 2114 in the MYH9 gene. This missense mutation changed codon 705 from an invariant arginine to a histidine within a highly conserved SH1 linker region. Previous studies had shown that modification of amino acid residues within the SH1 helix causes dysfunction of the ATPase activity of the motor domain in myosin II. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11023810+9390828" 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="#16" class="mim-tip-reference" title="Hildebrand, M. S., de Silva, M. G., Gardner, R. J. M., Rose, E., de Graaf, C. A., Bahlo, M., Dahl, H.-H. M. <strong>Cochlear implants for DFNA17 deafness.</strong> Laryngoscope 116: 2211-2215, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17146397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17146397</a>] [<a href="https://doi.org/10.1097/01.mlg.0000242089.72880.f8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17146397">Hildebrand et al. (2006)</a> reported a 5-generation Australian family of Anglo Celtic origin with nonsyndromic DFNA17 due to a heterozygous R705H mutation. The self-reported age of onset ranged from 6 years to the mid-twenties. The hearing loss became severe to profound by the second to third decades, although there was some intrafamilial variability. Five affected individuals received cochlear implants with excellent results. <a href="#16" class="mim-tip-reference" title="Hildebrand, M. S., de Silva, M. G., Gardner, R. J. M., Rose, E., de Graaf, C. A., Bahlo, M., Dahl, H.-H. M. <strong>Cochlear implants for DFNA17 deafness.</strong> Laryngoscope 116: 2211-2215, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17146397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17146397</a>] [<a href="https://doi.org/10.1097/01.mlg.0000242089.72880.f8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17146397">Hildebrand et al. (2006)</a> noted the contrast between the results of cochlear implant in this family and the poor results reported in 1 patient from the family of <a href="#27" class="mim-tip-reference" title="Lalwani, A. K., Goldstein, J. A., Kelley, M. J., Luxford, W., Castelein, C. M., Mhatre, A. N. <strong>Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.</strong> Am. J. Hum. Genet. 67: 1121-1128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11023810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11023810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11023810[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/10.1016/S0002-9297(07)62942-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11023810">Lalwani et al. (2000)</a>. <a href="#16" class="mim-tip-reference" title="Hildebrand, M. S., de Silva, M. G., Gardner, R. J. M., Rose, E., de Graaf, C. A., Bahlo, M., Dahl, H.-H. M. <strong>Cochlear implants for DFNA17 deafness.</strong> Laryngoscope 116: 2211-2215, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17146397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17146397</a>] [<a href="https://doi.org/10.1097/01.mlg.0000242089.72880.f8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17146397">Hildebrand et al. (2006)</a> speculated that early intervention plays an important role in the therapeutic response. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11023810+17146397" 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 Brazilian family in which 10 members had nonsyndromic hearing loss at all frequencies, <a href="#8" class="mim-tip-reference" title="Dantas, V. G. L., Lezirovitz, K., Yamamoto, G. L., Moura de Souza, C. F., Ferreira, S. G., Mingroni-Netto, R. C. <strong>c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.</strong> Genet. Molec. Biol. 37: 616-621, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25505834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25505834</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25505834[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/10.1590/S1415-47572014005000025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25505834">Dantas et al. (2014)</a> identified heterozygosity for the same R705H mutation in the MYH9 gene. The mutation segregated with the phenotype in the family. Three other members of the family with hearing loss at high frequencies did not have the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25505834" 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="#46" class="mim-tip-reference" title="Verver, E., Pecci, A., De Rocco, D., Ryhanen, S., Barozzi, S., Kunst, H., Topsakal, V., Savoia, A. <strong>R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.</strong> Clin. Genet. 88: 85-89, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24890873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24890873</a>] [<a href="https://doi.org/10.1111/cge.12438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24890873">Verver et al. (2015)</a> identified the R705H mutation in MYH9 in 2 unrelated families whose 4 affected individuals had not only hearing impairment, but also what the authors reported as thrombocytopenia, giant platelets, leukocyte inclusions, and mild to moderate elevation of some liver enzymes. They argued that DFNA17 should not be considered a separate genetic entity; however, the 4 affected individuals had platelet counts ranging from 96,000 to 142,000 and 2 had easy bruising, but none had spontaneous bleeding. While liver enzyme elevation was reported, the involvement was defined as ratios of ALT, AST, and GGT with respect to the upper limit of normal. All 4 patients had leukocyte inclusions. Mean platelet diameter varied between 3.8 and 4.5 microns, which is above the upper limit of normal range of 2.6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24890873" 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>.0009 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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> rs80338827 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338827;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/rs80338827?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=rs80338827" 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=rs80338827" 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=RCV000015132 OR RCV000851738 OR RCV001851865" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015132, RCV000851738, RCV001851865" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015132...</a>
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<p>In a European family living in the United States with Fechtner syndrome (MATINS; <a href="/entry/155100">155100</a>), <a href="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al. (2001)</a> found a transition converting codon 702 from CGT (arg) to CAT (his). The globular head domain of the MYHIIA protein was affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590545" 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="#42" class="mim-tip-reference" title="Seri, M., Savino, M., Bordo, D., Cusano, R., Rocca, B., Meloni, I., Di Bari, F., Koivisto, P. A., Bolognesi, M., Ghiggeri, G. M., Landolfi, R., Balduini, C. L., Zelante, L., Ravazzolo, R., Renieri, A., Savoia, A. <strong>Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.</strong> Hum. Genet. 110: 182-186, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11935325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11935325</a>] [<a href="https://doi.org/10.1007/s00439-001-0659-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11935325">Seri et al. (2002)</a> identified the same R702H mutation in affected members of 2 families, 1 Finnish and 1 Italian, with the phenotype they labeled Epstein syndrome. In the Finnish family, a 22-year-old man and his son were affected. The father had had recurrent nose bleeding from the age of 2 years. The Italian family had 6 affected members in 4 sibships in 3 generations. The proposita was a 35-year-old woman who had been known to be thrombocytopenic, with mild bleeding diathesis, from the age of 7 years. Hearing loss was selective for high tones. No renal problem was mentioned. Her father, however, had required hemodialysis from the age of 28 years and died at the age of 44 from end-stage kidney failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11935325" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015134 OR RCV000790358 OR RCV001271110 OR RCV002466404 OR RCV002496364 OR RCV002513058" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015134, RCV000790358, RCV001271110, RCV002466404, RCV002496364, RCV002513058" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015134...</a>
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<p><a href="#10" class="mim-tip-reference" title="Deutsch, S., Rideau, A., Bochaton-Piallat, M. L., Merla, G., Geinoz, A., Gabbiani, G., Schwede, T., Matthes, T., Antonarakis, S. E., Beris, P. <strong>Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.</strong> Blood 102: 529-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12649151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12649151</a>] [<a href="https://doi.org/10.1182/blood-2002-09-2783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12649151">Deutsch et al. (2003)</a> studied a Swiss family and an American family with the May-Hegglin anomaly/Fechtner syndrome (MATINS; <a href="/entry/155100">155100</a>) and found an asp1424-to-asn (D1424N) mutation in the MYH9 gene. Affected members in both families presented with severe thrombocytopenia, as well as characteristic giant platelets and Dohle-like inclusion bodies on blood smear examination. In the Swiss family, 2 affected sisters developed bilateral cataracts at a young age, whereas the third sister and her son had high-tone sensorineural deafness. Two individuals with thrombocytopenia showed no extrahematologic symptoms. None showed signs of nephritis. In the American family, 4 individuals suffered from sensorineural deafness, but no cataracts or nephritis were observed. Haplotype analysis indicated that in this family the mutation was a de novo event in 1 individual. The same mutation had previously been described in a pedigree of Japanese origin and in 2 pedigrees of American origin, most likely as a result of independent mutation events (<a href="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. <strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong> Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11590545[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/10.1086/324267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11590545">Heath et al., 2001</a>; <a href="#22" class="mim-tip-reference" title="Kunishima, S., Kojima, T., Matsushita, T., Tanaka, T., Tsurusawa, M., Furukawa, Y., Nakamura, Y., Okamura, T., Amemiya, N., Nakayama, T., Kamiya, T., Saito, H. <strong>Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).</strong> Blood 97: 1147-1149, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159552</a>] [<a href="https://doi.org/10.1182/blood.v97.4.1147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159552">Kunishima et al., 2001</a>). <a href="#10" class="mim-tip-reference" title="Deutsch, S., Rideau, A., Bochaton-Piallat, M. L., Merla, G., Geinoz, A., Gabbiani, G., Schwede, T., Matthes, T., Antonarakis, S. E., Beris, P. <strong>Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.</strong> Blood 102: 529-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12649151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12649151</a>] [<a href="https://doi.org/10.1182/blood-2002-09-2783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12649151">Deutsch et al. (2003)</a> demonstrated that the phenotypes result from a highly unstable MYH9 protein. No abnormalities in protein localization or mRNA stability were observed. They hypothesized that haploinsufficiency of MYH9 results in a failure to properly reorganize the cytoskeleton in megakaryocytes as required for efficient platelet production. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11159552+12649151+11590545" 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 the proband of the family with macrothrombocytopenia and progressive sensorineural deafness reported by <a href="#4" class="mim-tip-reference" title="Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G. <strong>Macrothrombocytopenia and progressive deafness: a new genetic syndrome.</strong> Am. J. Otol. 13: 507-511, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1449176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1449176</a>]" pmid="1449176">Brodie et al. (1992)</a>, <a href="#32" class="mim-tip-reference" title="Mhatre, A. N., Kim, Y., Brodie, H. A., Lalwani, A. K. <strong>Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.</strong> Otol. Neurotol. 24: 205-209, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12621333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12621333</a>] [<a href="https://doi.org/10.1097/00129492-200303000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12621333">Mhatre et al. (2003)</a> identified a heterozygous 4270G-A transition in exon 30 of the MYH9 gene, resulting in the D1424N substitution in the highly conserved coiled-coil region of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12621333+1449176" 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="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al. (2003)</a> identified a heterozygous D1424N mutation in a patient described as having May-Hegglin anomaly and Sebastian syndrome. The authors suggested that the 2 disorders are not separate entities, but rather represent the same disease with a continuous clinical spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" 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">rs587776808 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776808;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=rs587776808" 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=rs587776808" 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=RCV000015131" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015131" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015131</a>
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<p><a href="#26" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Yoshihara, T., Nakase, Y., Yokoi, K., Hamaguchi, M., Saito, H. <strong>First description of somatic mosaicism in MYH9 disorders.</strong> Brit. J. Haemat. 128: 360-365, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15667538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15667538</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05323.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15667538">Kunishima et al. (2005)</a> found a 1-bp deletion, 5818delG, in the MYH9 gene as the cause of May-Hegglin anomaly (MATINS; <a href="/entry/155100">155100</a>) in a 1-year-old boy. The deletion resulted in frameshift and premature termination. <a href="#26" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Yoshihara, T., Nakase, Y., Yokoi, K., Hamaguchi, M., Saito, H. <strong>First description of somatic mosaicism in MYH9 disorders.</strong> Brit. J. Haemat. 128: 360-365, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15667538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15667538</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05323.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15667538">Kunishima et al. (2005)</a> found that the father was a somatic mosaic for this mutation. The father had normal platelet counts; however, both normal-sized and giant platelets were observed on his peripheral blood smears. In addition, 14% of neutrophils contained inclusion bodies, and the rest showed a normal morphology. Quantitative fluorescent PCR analysis showed that only 6% of DNA from peripheral blood leukocytes harbored the mutation. The mutation was demonstrated in a similar frequency in different tissues, buccal mucosa cells, and hair bulb cells, implying that the mutation had occurred during gastrulation. <a href="#26" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Yoshihara, T., Nakase, Y., Yokoi, K., Hamaguchi, M., Saito, H. <strong>First description of somatic mosaicism in MYH9 disorders.</strong> Brit. J. Haemat. 128: 360-365, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15667538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15667538</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.05323.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15667538">Kunishima et al. (2005)</a> concluded that mosaicism may account for some de novo mutations in MYH9 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15667538" 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 individuals from 2 unrelated families with Epstein syndrome (MATINS; <a href="/entry/155100">155100</a>), <a href="#2" class="mim-tip-reference" title="Arrondel, C., Vodovar, N., Knebelmann, B., Grunfeld, J.-P., Gubler, M.-C., Antignac, C., Heidet, L. <strong>Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.</strong> J. Am. Soc. Nephrol. 13: 65-74, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752022</a>] [<a href="https://doi.org/10.1681/ASN.V13165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11752022">Arrondel et al. (2002)</a> identified a heterozygous 287C-T transition in the MYH9 gene, resulting in a ser96-to-leu (S96L) substitution predicted to disturb the helical region of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11752022" 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="#45" class="mim-tip-reference" title="Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J. A., Ludwig, M., Trobs, R.-B. <strong>Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? (Letter)</strong> Am. J. Med. Genet. 140A: 2251-2253, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16969870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16969870</a>] [<a href="https://doi.org/10.1002/ajmg.a.31454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16969870">Utsch et al. (2006)</a> identified a de novo heterozygous S96L mutation in an infant girl with features of Epstein syndrome, including macrothrombocytopenia and impaired platelet function but no evidence of hearing loss or nephritis. She also had exstrophy of the bladder (<a href="/entry/600057">600057</a>). <a href="#45" class="mim-tip-reference" title="Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J. A., Ludwig, M., Trobs, R.-B. <strong>Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? (Letter)</strong> Am. J. Med. Genet. 140A: 2251-2253, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16969870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16969870</a>] [<a href="https://doi.org/10.1002/ajmg.a.31454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16969870">Utsch et al. (2006)</a> noted that although MYH9 mutations had not previously been associated with urogenital malformations, the mutation may have played a role in the bladder exstrophy in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16969870" 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>By immunofluorescence studies of leukocytes derived from a patient with the S96L mutation, <a href="#24" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Kojima, T., Sako, M., Kimura, F., Jo, E.-K., Inoue, C., Kamiya, T., Saito, H. <strong>Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.</strong> Lab. Invest. 83: 115-122, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12533692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12533692</a>] [<a href="https://doi.org/10.1097/01.lab.0000050960.48774.17" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12533692">Kunishima et al. (2003)</a> detected abnormal subcellular localization of MYH9, showing a speckled pattern or small dots. Neutrophil inclusions had not been found on conventional Giemsa staining. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12533692" 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">rs876661302 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs876661302;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=rs876661302" 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=rs876661302" 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=RCV000015139" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015139" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015139</a>
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<p>In a patient described as having May-Hegglin anomaly and Sebastian syndrome (MATINS; <a href="/entry/155100">155100</a>), <a href="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al. (2003)</a> identified a heterozygous 21-bp deletion in the MYH9 gene, resulting in an in-frame deletion of 7 amino acids (E1066-A1072) in the rod domain. <a href="#9" class="mim-tip-reference" title="De Rocco, D., Pujol-Moix, N., Pecci, A., Faletra, F., Bozzi, V., Balduini, C. L., Savoia, A. <strong>Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.</strong> Europ. J. Med. Genet. 52: 191-194, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19450438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19450438</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19450438">De Rocco et al. (2009)</a> identified the reciprocal in-frame duplication in another family (<a href="#0014">160775.0014</a>). Detailed sequence analysis of this region revealed a 16-nucleotide repeat that was likely responsible for unequal crossing-over. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19450438+12792306" 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 3 affected members of a family with May-Hegglin anomaly (MATINS; <a href="/entry/155100">155100</a>), <a href="#9" class="mim-tip-reference" title="De Rocco, D., Pujol-Moix, N., Pecci, A., Faletra, F., Bozzi, V., Balduini, C. L., Savoia, A. <strong>Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.</strong> Europ. J. Med. Genet. 52: 191-194, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19450438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19450438</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19450438">De Rocco et al. (2009)</a> identified a heterozygous 21-bp duplication in exon 24 of the MYH9 gene, resulting in an in-frame duplication of 7 amino acids (E1066-A1072) in the rod domain. All patients had congenital macrothrombocytopenia and Dohle-like inclusion bodies in neutrophils, consistent with May-Hegglin anomaly, and 1 patient also had congenital cataracts, which is part of the phenotypic spectrum of MYH9-related disorders. <a href="#41" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. <strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong> Medicine 82: 203-215, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>] [<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12792306">Seri et al. (2003)</a> identified the reciprocal in-frame deletion in another patient (<a href="#0013">160775.0013</a>). Detailed sequence analysis of this region revealed a 16-nucleotide repeat that was likely responsible for unequal crossing-over. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19450438+12792306" 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">rs2146392848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2146392848;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=rs2146392848" 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=rs2146392848" 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=RCV000015142" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015142" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015142</a>
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<p>In a 45-year-old Japanese man with macrothrombocytopenia and sensorineural deafness (MATINS; <a href="/entry/155100">155100</a>), <a href="#25" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Shiratsuchi, M., Ikuta, T., Nishimura, J., Hamaguchi, M., Naoe, T., Saito, H. <strong>Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.</strong> Europ. J. Haemat. 74: 1-5, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15613099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15613099</a>] [<a href="https://doi.org/10.1111/j.1600-0609.2004.00328.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15613099">Kunishima et al. (2005)</a> identified a heterozygous 18-bp deletion (228_245del) in exon 1 of the MYH9 gene, resulting in an in-frame deletion of 6 amino acids (asn76 to ser81) in a helix segment adjacent to the SH1 helix. The mutation affected the N-terminal head domain. The patient had no evidence of renal dysfunction or cataract. Leukocyte morphology on conventional Giemsa staining was ambiguous, but immunofluorescence staining showed abnormal subcellular localization of MYH9. The MYH9-positive structures showed a thread-like appearance, not punctuated or granular as often described in other MYH9-related disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15613099" 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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Arii, J., Goto, H., Suenaga, T., Oyama, M., Kozuka-Hata, H., Imai, T., Minowa, A., Akashi, H., Arase, H., Kawaoka, Y., Kawaguchi, Y.
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<strong>Non-muscle myoxin IIA is a functional entry receptor for herpes simplex virus-1.</strong>
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Nature 467: 859-862, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20944748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20944748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20944748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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J. Am. Soc. Nephrol. 13: 65-74, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11752022" 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/10.1681/ASN.V13165" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2011.08716.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M404791200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200533" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0378-1119(02)00455-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1590/S1415-47572014005000025" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2009.01.006" target="_blank">Full Text</a>]
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<strong>Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.</strong>
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[<a href="https://doi.org/10.1182/blood-2002-09-2783" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.2005.05658.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(72)90017-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.chom.2011.03.009" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/324267" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/01.mlg.0000242089.72880.f8" target="_blank">Full Text</a>]
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<strong>Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function.</strong>
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[<a href="https://doi.org/10.1074/jbc.M208506200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ni1065" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18794854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18794854</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18794854[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=18794854" 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/ng.232" target="_blank">Full Text</a>]
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<a id="Kelley2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F.
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<strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong>
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Nature Genet. 26: 106-108, 2000.
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[<a href="https://doi.org/10.1038/79069" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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Kopp, J. B., Smith, M. W., Nelson, G. W., Johnson, R. C., Freedman, B. I., Bowden, D. W., Oleksyk, T., McKenzie, L. M., Kajiyama, H., Ahuja, T. S., Berns, J. S., Briggs, W., and 10 others.
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<strong>MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.</strong>
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Nature Genet. 40: 1175-1184, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18794856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18794856</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18794856[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=18794856" 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/ng.226" target="_blank">Full Text</a>]
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<a id="Kunishima2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kunishima, S., Kojima, T., Matsushita, T., Tanaka, T., Tsurusawa, M., Furukawa, Y., Nakamura, Y., Okamura, T., Amemiya, N., Nakayama, T., Kamiya, T., Saito, H.
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<strong>Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).</strong>
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Blood 97: 1147-1149, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159552" 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/10.1182/blood.v97.4.1147" target="_blank">Full Text</a>]
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<a id="Kunishima2001" class="mim-anchor"></a>
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<div class="">
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Kunishima, S., Matsushita, T., Kojima, T., Amemiya, N., Choi, Y. M., Hosaka, N., Inoue, M., Jung, Y., Mamiya, S., Matsumoto, K., Miyajima, Y., Zhang, G., Ruan, C., Saito, K., Song, K. S., Yoon, H.-J., Kamiya, T., Saito, H.
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<strong>Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11776386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11776386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11776386" 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/10.1007/s100380170007" target="_blank">Full Text</a>]
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<a id="Kunishima2003" class="mim-anchor"></a>
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<div class="">
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Kunishima, S., Matsushita, T., Kojima, T., Sako, M., Kimura, F., Jo, E.-K., Inoue, C., Kamiya, T., Saito, H.
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<strong>Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.</strong>
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Lab. Invest. 83: 115-122, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12533692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12533692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12533692" 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/10.1097/01.lab.0000050960.48774.17" target="_blank">Full Text</a>]
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<a id="Kunishima2005" class="mim-anchor"></a>
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<div class="">
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Kunishima, S., Matsushita, T., Shiratsuchi, M., Ikuta, T., Nishimura, J., Hamaguchi, M., Naoe, T., Saito, H.
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<strong>Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15613099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15613099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15613099" 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/10.1111/j.1600-0609.2004.00328.x" target="_blank">Full Text</a>]
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<a id="Kunishima2005" class="mim-anchor"></a>
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<div class="">
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<strong>First description of somatic mosaicism in MYH9 disorders.</strong>
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[<a href="https://doi.org/10.1111/j.1365-2141.2004.05323.x" target="_blank">Full Text</a>]
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<div class="">
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<strong>Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11023810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11023810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11023810[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=11023810" 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/10.1016/S0002-9297(07)62942-5" target="_blank">Full Text</a>]
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Lalwani, A. K., Linthicum, F. H., Wilcox, E. R., Moore, J. K., Walters, F. C., San Agustin, T. B., Mislinski, J., Miller, M. R., Sinninger, Y., Attaie, A., Luxford, W. M.
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[<a href="https://doi.org/10.1159/000259237" target="_blank">Full Text</a>]
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<strong>The gene for May-Hegglin anomaly localizes to a less than 1-Mb region on chromosome 22q12.3-13.1.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739770</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739770[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=10739770" 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/10.1086/302873" target="_blank">Full Text</a>]
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<strong>Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice.</strong>
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[<a href="https://doi.org/10.1016/j.bbrc.2004.10.147" target="_blank">Full Text</a>]
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May-Hegglin/Fechtner Syndrome Consortium.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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/10.1038/79063" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00129492-200303000-00013" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004670050700" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.brainres.2006.03.032" target="_blank">Full Text</a>]
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Pecci, A., Canobbio, I., Balduini, A., Stefanini, L., Cisterna, B., Marseglia, C., Noris, P., Savoia, A., Balduini, C. L., Torti, M.
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[<a href="https://doi.org/10.1093/hmg/ddi344" target="_blank">Full Text</a>]
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Pecci, A., Panza, E., Pujol-Moix, N., Klersy, C., Di Bari, F., Bozzi, V., Gresele, P., Lethagen, S., Fabris, F., Dufour, C., Granata, A., Doubek, M., and 14 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18059020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18059020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18059020" 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/humu.20661" target="_blank">Full Text</a>]
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<a id="Rabbolini2018" class="mim-anchor"></a>
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Rabbolini, D. J., Chun, Y., Latimer, M., Kunishima, S., Fixter, K., Valecha, B., Tan, P., Chew, L. P., Kile, B. T., Burt, R., Radhakrishnan, K., Bird, R., Ockelford, P., Gabrielli, S., Chen, Q., Stevenson, W. S., Ward, C. M., Morel-Koop, M.-C.
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[<a href="https://doi.org/10.1080/09537104.2017.1356920" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1993.tb03193.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.87.3.1164" target="_blank">Full Text</a>]
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Schramek, D., Sendoel, A., Segal, J. P., Beronja, S., Heller, E., Oristian, D., Reva, B., Fuchs, E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24436421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24436421</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24436421[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=24436421" 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.1248627" target="_blank">Full Text</a>]
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Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others.
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<strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" 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/10.1097/01.md.0000076006.64510.5c" target="_blank">Full Text</a>]
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Seri, M., Savino, M., Bordo, D., Cusano, R., Rocca, B., Meloni, I., Di Bari, F., Koivisto, P. A., Bolognesi, M., Ghiggeri, G. M., Landolfi, R., Balduini, C. L., Zelante, L., Ravazzolo, R., Renieri, A., Savoia, A.
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[<a href="https://doi.org/10.1007/s00439-001-0659-1" target="_blank">Full Text</a>]
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<strong>Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes.</strong>
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[<a href="https://doi.org/10.1161/01.res.69.2.530" target="_blank">Full Text</a>]
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<strong>Cellular myosin heavy chain in human leukocytes: isolation of 5-prime cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation.</strong>
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Blood 78: 1826-1833, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1912569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1912569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1912569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J. A., Ludwig, M., Trobs, R.-B.
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<strong>Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16969870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16969870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16969870" 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.a.31454" target="_blank">Full Text</a>]
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Verver, E., Pecci, A., De Rocco, D., Ryhanen, S., Barozzi, S., Kunst, H., Topsakal, V., Savoia, A.
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<strong>R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.</strong>
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Clin. Genet. 88: 85-89, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24890873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24890873</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24890873" 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/10.1111/cge.12438" target="_blank">Full Text</a>]
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Wilson, C. A., Tsuchida, M. A., Allen, G. M., Barnhart, E. L., Applegate, K. T., Yam, P. T., Ji, L., Keren, K., Danuser, G., Theriot, J. A.
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<strong>Myosin II contributes to cell-scale actin network treadmilling through network disassembly.</strong>
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Nature 465: 373-377, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20485438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20485438</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20485438[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=20485438" 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/nature08994" target="_blank">Full Text</a>]
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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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Ada Hamosh - updated : 06/25/2018
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 06/14/2018<br>Ada Hamosh - updated : 06/13/2018<br>Ada Hamosh - updated : 3/27/2014<br>Paul J. Converse - updated : 3/1/2012<br>Ada Hamosh - updated : 11/11/2010<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Cassandra L. Kniffin - updated : 9/22/2010<br>Ada Hamosh - updated : 6/7/2010<br>George E. Tiller - updated : 7/21/2009<br>Ada Hamosh - updated : 1/16/2009<br>Cassandra L. Kniffin - updated : 6/26/2008<br>Cassandra L. Kniffin - updated : 12/18/2006<br>Patricia A. Hartz - updated : 2/9/2006<br>Victor A. McKusick - updated : 3/21/2005<br>Paul J. Converse - updated : 4/9/2004<br>Victor A. McKusick - updated : 10/15/2003<br>Patricia A. Hartz - updated : 1/16/2003<br>Victor A. McKusick - updated : 5/10/2002<br>Victor A. McKusick - updated : 3/6/2002<br>Victor A. McKusick - updated : 3/4/2002<br>Victor A. McKusick - updated : 11/27/2001<br>Victor A. McKusick - updated : 4/3/2001<br>Victor A. McKusick - updated : 11/21/2000<br>Victor A. McKusick - updated : 8/29/2000
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Victor A. McKusick : 3/1/1990
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carol : 02/13/2020<br>carol : 01/15/2019<br>carol : 06/25/2018<br>carol : 06/14/2018<br>carol : 06/13/2018<br>carol : 05/31/2016<br>carol : 4/26/2016<br>alopez : 5/21/2015<br>alopez : 3/27/2014<br>mgross : 3/2/2012<br>terry : 3/1/2012<br>alopez : 12/6/2011<br>terry : 12/1/2011<br>alopez : 11/15/2010<br>terry : 11/11/2010<br>alopez : 11/3/2010<br>wwang : 10/29/2010<br>ckniffin : 10/11/2010<br>carol : 9/23/2010<br>ckniffin : 9/22/2010<br>alopez : 6/7/2010<br>wwang : 8/7/2009<br>terry : 7/21/2009<br>alopez : 3/12/2009<br>alopez : 1/23/2009<br>alopez : 1/22/2009<br>terry : 1/16/2009<br>terry : 12/2/2008<br>wwang : 7/2/2008<br>ckniffin : 6/26/2008<br>terry : 9/17/2007<br>carol : 2/23/2007<br>wwang : 12/27/2006<br>ckniffin : 12/18/2006<br>carol : 5/22/2006<br>mgross : 3/10/2006<br>mgross : 3/9/2006<br>mgross : 3/9/2006<br>terry : 2/9/2006<br>wwang : 3/23/2005<br>terry : 3/21/2005<br>alopez : 5/3/2004<br>mgross : 4/9/2004<br>terry : 11/11/2003<br>cwells : 10/15/2003<br>cwells : 1/22/2003<br>terry : 1/16/2003<br>cwells : 5/29/2002<br>terry : 5/10/2002<br>terry : 3/25/2002<br>alopez : 3/19/2002<br>terry : 3/6/2002<br>terry : 3/4/2002<br>alopez : 11/30/2001<br>terry : 11/27/2001<br>cwells : 4/6/2001<br>cwells : 4/4/2001<br>mcapotos : 4/3/2001<br>mcapotos : 2/2/2001<br>mcapotos : 12/11/2000<br>mcapotos : 11/29/2000<br>mcapotos : 11/29/2000<br>terry : 11/21/2000<br>alopez : 8/31/2000<br>terry : 8/29/2000<br>alopez : 4/30/1999<br>mimadm : 4/14/1994<br>carol : 12/14/1992<br>carol : 12/7/1992<br>supermim : 3/16/1992<br>carol : 11/13/1991<br>carol : 11/6/1991
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<span class="mim-font">
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<strong>*</strong> 160775
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<h3>
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<span class="mim-font">
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MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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CELLULAR MYOSIN HEAVY CHAIN, TYPE A<br />
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MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA<br />
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NONMUSCLE MYOSIN IIA<br />
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NMHC IIA
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MYH9</em></strong>
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<strong>SNOMEDCT:</strong> 712922002;
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Cytogenetic location: 22q12.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:36,281,280-36,387,967 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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22q12.3
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Deafness, autosomal dominant 17
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<span class="mim-font">
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603622
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Autosomal dominant
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3
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Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
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<span class="mim-font">
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155100
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Saez et al. (1990) provided a molecular genetic characterization of a human nonmuscle myosin heavy chain expressed in fibroblasts, endothelial cells, and macrophages. The deduced 1,247-amino acid was weakly homologous (33%) to sarcomeric MHC, but about 72% identical to smooth muscle MHC. In contrast to vertebrate sarcomeric MHCs, which generate diversity through the expression of members of a multigene family, an alternative polyadenylation site is used in the nonmuscle MHC gene to generate multiple transcripts that encode the same protein. </p><p>D'Apolito et al. (2002) cloned mouse Myh9. The deduced 1,960-amino acid protein shares 98% identity with human MYH9. Northern blot analysis detected abundant Myh9 expression in mouse liver, spleen, lung, and kidney, but not in skeletal muscle or testis. </p>
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<strong>Gene Function</strong>
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<p>Toothaker et al. (1991) observed that antisera raised against the peptide made from the predicted amino acid sequence specifically reacted with a 224-kD polypeptide in leukocyte cell lines, and the protein was upregulated during the induction of monocytic and granulocytic differentiation in these cells. The cellular myosin heavy chain may be the major contractile protein responsible for movement in myeloid cell lines because no mRNA for sarcomeric myosin heavy chains is detected in these cells. </p><p>By screening mouse T-cell cDNA for myosin family members, followed by Western blot analysis, Jacobelli et al. (2004) found that Myh9 was the only class II nonmuscle myosin readily and highly detectable. Time-lapse fluorescence microscopy demonstrated that, during T-cell crawling, Myh9 expression was enriched in the uropod. After encounter with antigen on antigen-presenting cells (APCs), Myh9 redistributed to the T-cell-APC interface upon formation of the immunologic synapse. Further imaging and siRNA analysis showed that Myh9 was required for T-cell uropodal morphology, but not for synapse formation. TCR-induced phosphorylation of Myh9 in its multimerization domain indicated that inactivation of the myosin motor may be a key step in the T-cell 'stop' response during antigen recognition. </p><p>Chung and Kawamoto (2004) identified an intronic region that they designated 32kb-150, located 32 kb downstream of the transcription start sites in the human NMHCA gene, as a transcriptional regulatory region. Among IRF proteins tested, only IRF2 (147576) bound to the interferon-stimulated response element (ISRE) within 32kb-150 in vitro and in HeLa cells and mouse fibroblasts. IRF2 acted as a transcriptional activator in a reporter gene assay. The phorbol ester TPA, which triggers differentiation of human promyelocytic HL-60 cells into macrophages, upregulated expression of both NMHCA and IRF2. Chung and Kawamoto (2004) concluded that IRF2 contributes to transcriptional activation of the NMHCA gene via 32kb-150 during TPA-induced differentiation of HL-60 cells. </p><p>Wilson et al. (2010) showed that nonmuscle myosin II has a direct role in actin network disassembly in crawling cells. In fish keratocytes undergoing motility, myosin II is concentrated in regions at the rear with high rates of network disassembly. Activation of myosin II by ATP in detergent-extracted cytoskeletons resulted in rear-localized disassembly of the actin network. Inhibition of myosin II activity and stabilization of actin filaments synergistically impeded cell motility, suggesting the existence of 2 disassembly pathways, one of which requires myosin II activity. Wilson et al. (2010) concluded that their results established the importance of myosin II as an enzyme for actin network disassembly, and proposed that gradual formation and reorganization of an actomyosin network provides an intrinsic destruction timer, enabling long-range coordination of actin network treadmilling in motile cells. </p><p>Arii et al. (2010) showed that nonmuscle myosin heavy chain IIA (NMHC-IIA), a subunit of nonmuscle myosin IIA (NM-IIA), functions as a herpes simplex virus-1 (HSV-1) entry receptor by interacting with glycoprotein B. A cell line that is relatively resistant to HSV-1 infection became highly susceptible to infection by this virus when NMHC-IIA was overexpressed. Antibody to NMHC-IIA blocked HSV-1 infection in naturally permissive target cells. Furthermore, knockdown of NMHC-IIA in the permissive cells inhibited HSV-1 infection as well as cell-cell fusion when glycoproteins B, D, H, and L were coexpressed. Cell surface expression of NMHC-IIA was markedly and rapidly induced during the initiation of HSV-1 entry. NMHC-IIA is ubiquitously expressed in various human tissues and cell types and, therefore, is implicated as a functional glycoprotein B receptor that mediates broad HSV-1 infectivity both in vitro and in vivo. </p><p>Using immunofluorescence microscopy, Western blot analysis, and knockdown strategies with human lung fibroblasts, Hanisch et al. (2011) showed that Salmonella entered nonphagocytic cells by manipulating 2 machineries of actin-based motility in the host: actin polymerization through the ARP2/3 complex (604221), and actomyosin-mediated contractility in a myosin IIA- and myosin IIB-dependent manner. Hanisch et al. (2011) concluded that Salmonella entry can be effected independently of membrane ruffling. </p><p>Schramek et al. (2014) used a direct in vivo RNA interference (RNAi) strategy to screen for genes that upon repression predispose mice to squamous cell carcinomas. Tissue-specific Myh9 RNA interference and Myh9 knockout triggered invasive squamous cell carcinoma formation on tumor-susceptible backgrounds. In human and mouse keratinocytes, myosin IIa's function was manifested not only in conventional actin-related processes but also in regulating posttranscriptional p53 (191170) stabilization. Myosin IIa was diminished in human squamous cell carcinomas with poor survival, which suggested that in vivo RNAi technology might be useful for identifying potent but low-penetrance tumor suppressors. </p>
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<h4>
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<strong>Gene Structure</strong>
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</h4>
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<span class="mim-text-font">
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<p>D'Apolito et al. (2002) determined that the mouse Myh9 gene, like human MYH9, contains 41 exons. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>By Southern analysis of a panel of human-mouse somatic cell hybrids, Saez et al. (1990) demonstrated that the nonmuscle MHC gene is located on chromosome 22 and is therefore unlinked to the 2 sarcomeric MHC clusters on chromosomes 14 and 17. A cell line containing a translocation involving chromosome 22 allowed a regional assignment to 22pter-q13. Toothaker et al. (1991) mapped the gene to 22q12.3-q13.1 by Southern analysis of human/rodent somatic cell hybrids and by in situ hybridization. Simons et al. (1991) likewise mapped a nonmuscle myosin heavy chain gene, which they designated NMMHCA, to 22q11.2. A second nonmuscle myosin heavy chain, which they designated NMMHC-B (160776), was found to be encoded by a gene on 17q13. Both were 7.5 kb long. In the amino-terminal one-third (amino acids 58-718), they were 89% identical at the amino acid level and 74% identical at the nucleotide level. Muscle myosin heavy chain genes are located on 17p. </p><p>D'Apolito et al. (2002) mapped the mouse Myh9 gene to a region of chromosome 15 that shares homology of synteny with human chromosome 22q12.3-q13.1. </p><p><strong><em>Association with Kidney Disease in African Americans</em></strong></p><p>
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In independent genomewide admixture scans to map susceptibility loci for kidney disease in African Americans, Kopp et al. (2008) and Kao et al. (2008) identified variation at the MYH9 locus as a major factor for the increased risk of nondiabetic kidney disease in this population (FSGS4; 612551). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss</em></strong></p><p>
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Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS; 155100) was previously thought to be 4 distinct giant platelet disorders with overlapping features caused by mutation in the MYH9 gene: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. All 4 were found to represent a single disorder with a continuous clinical spectrum: variable phenotypic expression is observed not only between families but also within families with the same MYH9 mutation (Seri et al., 2003). </p><p>The May-Hegglin/Fechtner Syndrome Consortium (2000) identified 6 heterozygous MYH9 mutations in 7 unrelated probands with one or another of 3 giant platelet disorders: May-Hegglin anomaly (R1933X, 160775.0001 and E1841K, 160775.0002), Fechtner syndrome (D1424H, 160775.0005 and R792C, 160775.0006), and Sebastian syndrome (T1155I; 160775.0007). On the basis of molecular modeling, 2 mutations affecting the myosin head domain were predicted to impose electrostatic and conformational changes, whereas the truncating mutation deleted the unique C-terminal tailpiece. The remaining missense mutations, all affecting highly conserved coiled-coil domain positions, imparted destabilizing electrostatic and polar changes. Thus, the findings demonstrated that mutations in MYH9 result in 3 phenotypically distinct megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts, and nephritis. </p><p>Kelley et al. (2000) identified mutations in the MYH9 gene in 10 unrelated patients with May-Hegglin anomaly: E1841K in 5 families, R1933X in 4 families, and T1155I (160775.0007) in the last family. </p><p>Kunishima et al. (2001) found mutations in NMMHCA in 6 of 7 Japanese families with macrothrombocytopenia with leukocyte inclusions: 3 missense mutations, 1 nonsense mutation, and a 1-bp deletion resulting in a premature termination. Immunofluorescence studies showed that NMMHCA distribution in neutrophils mimics the inclusion bodies. These results provided evidence for the involvement of an abnormal form of NMMHCA in the creation of leukocyte inclusions and also in platelet morphogenesis. </p><p>Heath et al. (2001) examined the spectrum of mutations and the genotype-phenotype and structure-function relationships in a large cohort of 27 individuals with May-Hegglin anomaly, Fechtner syndrome (some cases of which were called Alport-like syndrome with macrothrombocytopenia), or Sebastian syndrome. They found that R702C (160775.0006) and R702H (160775.0009) mutations in the head domain were associated only with Fechtner syndrome (some cases designated as Alport-like syndrome with macrothrombocytopenia) or Epstein syndrome, thus defining a region of the MYHIIA protein critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness. Mutations in the coiled-coil domain (e.g., R1933X; 160775.0001) were common to May-Hegglin anomaly and Fechtner syndrome. </p><p>To elucidate the spectrum of MYH9 mutations responsible for the group of disorders under the general designation autosomal dominant macrothrombocytopenia with leukocyte inclusions, Kunishima et al. (2001) examined the MYH9 gene in an additional 11 families and 3 sporadic patients with the disorders from Japan, Korea, and China. All 14 patients had heterozygous MYH9 mutations, including 3 known mutations: R1933X (160775.0001), R1165C (160775.0003), and E1841K (160775.0002). Six novel mutations (3 missense and 3 deletion) were also found. Two patients had Alport manifestations including deafness, nephritis, and cataract and had R1165C and E1841K mutations, respectively. However, taken together with 3 previous reports, the data did not show clear phenotype-genotype relationships. </p><p>Hu et al. (2002) noted that 2 disease-causing mutations, N93K (160775.0004) and R702C (160775.0006), lie within close proximity in the 3-dimensional structure of the head domain of MYH9. They coexpressed recombinant fragments of MYH9 along with the appropriate light chains to create 2-headed meromyosin-like molecules bearing these mutations. The R702C mutant displayed 25% of the maximal MgATPase activity of wildtype heavy meromyosin and moved actin filaments at half the wildtype rate in an in vitro motility assay. Heavy meromyosin containing the N93K mutation had only 4% of the maximal MgATPase activity and did not translocate actin filaments. The characteristics of this mutation were consistent with an inability to fully adopt the 'on' conformation. The N93K mutation was also associated with a tendency for the myosin to aggregate, which may explain the leukocyte inclusions associated with this mutation in humans. </p><p>In the proband of the family with macrothrombocytopenia and progressive sensorineural deafness reported by Brodie et al. (1992), Mhatre et al. (2003) identified a missense mutation in the MYH9 gene (D1424N; 160775.0010). </p><p>Kunishima et al. (2005) identified a mutation (160775.0011) in a 1-year-old boy with May-Hegglin anomaly resulting from somatic mosaicism in the father. </p><p>By immunofluorescence analysis using a polyclonal antibody against human platelet MYH9, Kunishima et al. (2003) detected abnormal subcellular localization of MYH9 in neutrophils from all 21 patients with MYH9 mutations examined, including a patient with Epstein syndrome. Comparison with May-Grunwald-Giemsa staining revealed that the antibody always coexisted with the neutrophil inclusion bodies, providing proof that MYH9 is associated with such bodies. In some cases, neutrophil inclusions were not detected on conventional May-Grunwald-Giemsa-stained blood smears, but immunofluorescence analysis found the abnormal MYH9 localization. Kunishima et al. (2003) proposed that the mutant MYH9 protein dimerizes with the wildtype protein to form inclusions, consistent with a dominant-negative effect. </p><p>Pecci et al. (2005) investigated 11 patients from 6 pedigrees with different MYH9 mutations (see, e.g., 160775.0001-160775.0005). NMHC IIA levels were measured in platelets and granulocytes isolated from peripheral blood and in megakaryocytes cultured from circulating progenitors. All patients studied had a 50% reduction of NMHC IIA expression in platelets and megakaryocytes. In subjects with the R1933X (160775.0001) and E1945X mutations, the whole NMHC IIA of platelets and megakaryocytes was wildtype. No NMHC IIA inclusions were observed at any time of megakaryocyte maturation. In granulocytes, the extent of NMHC IIA reduction in patients with respect to control cells was significantly greater than that measured in platelets and megakaryocytes; wildtype protein was sequestered within most of the NMHC IIA inclusions. These results indicated that haploinsufficiency of NMHC IIA in megakaryocytic lineage is the mechanism of macrothrombocytopenia consequent to MYH9 mutations, whereas in granulocytes a dominant-negative effect of the mutant allele appeared to be involved in the formation of inclusion bodies. </p><p>Balduini et al. (2011) noted that at least 44 different mutations had been identified in 218 unrelated families with MATINS. Of these, 27 are amino acid substitutions affecting 19 of the 1,960 residues of the protein. In 79% of patients, mutations affect only 6 residues: ser96 (6%) and arg702 (24%) in the globular head, arg1165 (9%), asp1424 (20%), and glu1842 (22%) in the coiled-coil domain, or arg1933 (19%) in the nonhelical portion of the tail domain. </p><p><strong><em>Deafness, Autosomal Dominant 17</em></strong></p><p>
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Lalwani et al. (2000) demonstrated heterozygosity for a missense mutation (R705H; 160775.0008) in the MYH9 gene in affected members of a kindred with deafness (DFNA17; 603622). </p><p>Hildebrand et al. (2006) reported a 5-generation Australian family of Anglo Celtic origin with nonsyndromic DFNA17 caused by heterozygosity for the R705H mutation. </p><p>In a Brazilian family in which 10 members had nonsyndromic hearing loss at all frequencies, Dantas et al. (2014) identified heterozygosity for the same R705H mutation in the MYH9 gene. The mutation segregated with the phenotype in the family. </p>
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</span>
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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>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>From a study of 13 families with macrothrombocytopenia and granulocyte inclusions with or without nephropathy or hearing loss and a review of the literature, Dong et al. (2005) suggested that mutation in the C-terminal coiled-coil region or truncation of the tailpiece of the MYH9 gene is associated with a hematologic-only phenotype, whereas mutation of the head ATPase domain is more frequently associated with the additional features of nephropathy and hearing loss. </p><p>In a study of 108 patients from 50 unrelated pedigrees with MYH9 mutations, Pecci et al. (2008) found that 68% of families carried mutations in 1 of 4 residues: 702 in the motor domain (12 families) and residues 1424, 1841, and 1933 in the tail domain (9, 7, and 6 pedigrees, respectively). All subjects with mutations in the motor domain of MYH9 developed severe thrombocytopenia, nephritis, and deafness before the age of 40 years. Patients with mutations at residue 1424 or 1841 had a much lower risk of these complications, significantly higher platelet counts, and an intermediate clinical picture. Patients with mutations at residue 1933 did not develop kidney damage or cataracts but did develop deafness late in life. </p>
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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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Matsushita et al. (2004) found that homozygous deletion of Myh9 in mice was embryonic lethal. In contrast, Myh9 +/- mice were viable and fertile without gross anatomic, hematologic, or nephrologic abnormalities. However, auditory brainstem responses indicated that 2 of 6 Myh9 +/- mice had hearing loss. Parker et al. (2006) also found that homozygous mutations in Myh9 are embryonic lethal in mice. In contrast to the findings of Matsushita et al. (2004), Parker et al. (2006) did not observe hearing loss in Myh9 heterozygous adult mice, despite haploinsufficiency for Myh9 in the mutant mouse inner ear. In addition, aged Myh9 heterozygous mice did not show signs of cochleosaccular degeneration common in DFNA17. Parker et al. (2006) used a public gene-targeted embryonic stem cell bank resource to generate the mice. </p>
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</span>
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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>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Seri et al. (2002) suggested that the R702C (160775.0006) mutation is associated with Fechtner syndrome, in which inclusion bodies are found in the leukocytes. Such bodies were said to be absent in Epstein syndrome, and Seri et al. (2002) suggested, on the basis of predictions from molecular modeling of the x-ray crystallographic structure of chick smooth muscle myosin, that the mutated thiol-reactive group of R702C might lead to intermolecular disulfide bridges, with the consequent formation of inclusions typical of Fechtner syndrome. On the contrary, the R702H mutation, they suggested, does not allow the protein to aggregate and thus to generate 'Dohle-like' bodies. It should be pointed out, however, that the kindred (family F) originally described by Epstein et al. (1972) carried the R702C mutation. </p>
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</span>
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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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<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>15 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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>.0001 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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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MYH9, ARG1933TER
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<br />
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SNP: rs80338835,
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gnomAD: rs80338835,
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ClinVar: RCV000015116, RCV000790363, RCV001092002, RCV001270545, RCV005031439
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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 a family used in linkage studies to define the May-Hegglin anomaly (MATINS; 155100) critical region on chromosome 22 (Martignetti et al., 2000), the May-Hegglin/Fechtner Syndrome Consortium (2000) found that affected individuals had a heterozygous nonsense mutation in codon 1933 of the MYH9 gene, predicting the replacement of an arginine by a stop codon (R1933X) and deletion of the last 28 amino acids. </p><p>Kelley et al. (2000) found the R1933X mutation in 4 of 10 families they studied with May-Hegglin anomaly. It was caused by a 5797C-T transition in exon 40. </p><p>Heath et al. (2001) identified a heterozygous R1933X mutation in affected members of a family described as having Fechtner syndrome, although deafness and cataract were not present. Another family with the R1933X mutation was described as having May-Hegglin anomaly/Sebastian syndrome. </p><p>Rabbolini et al. (2018) reported 2 Australian patients with macrothrombocytopenia and granulocyte inclusions who were heterozygous for the R1933X mutation; one of the patients also had renal impairment. </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>.0002 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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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MYH9, GLU1841LYS
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<br />
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SNP: rs80338834,
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ClinVar: RCV000015119, RCV000790361, RCV001310800, RCV002466403, RCV004798729
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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 2 unrelated families with May-Hegglin anomaly (MATINS; 155100), the May-Hegglin/Fechtner Syndrome Consortium (2000) found that affected individuals had the same missense mutation, glu1841 to lys (E1841K), within the coiled-coil domain of the MYH9 protein. The missense mutation was caused by a G-to-A transition at nucleotide 5521 in exon 38. Neither family history nor haplotype analysis suggested common ancestry. </p><p>Kelley et al. (2000) found the E1841K mutation in 5 of 10 families studied with May-Hegglin anomaly and commented that it occurs at a conserved site in the rod domain. </p><p>Heath et al. (2001) identified a heterozygous E1841K mutation in 2 unrelated families with Fechtner syndrome. One of the families had been reported by Rocca et al. (1993); in this 4-generation family, only some affected members had 'Alport-like' symptoms, such as deafness, nephritis, and cataracts, consistent with 'reduced expression of Alport manifestations.' </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>.0003 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS</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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MYH9, ARG1165CYS
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<br />
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SNP: rs80338829,
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ClinVar: RCV000015121, RCV000790357, RCV001092004, RCV001270614, RCV001542710, RCV005025055
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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 a family diagnosed with Sebastian syndrome (MATINS; 155100), the May-Hegglin/Fechtner Syndrome Consortium (2000) found that affected individuals had a heterozygous 3493C-T transition in the MYH9 gene, resulting in an arg1165-to-cys (R1165C) substitution. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH9, ASN93LYS
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|
|
<br />
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|
|
SNP: rs121913655,
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|
|
|
gnomAD: rs121913655,
|
|
|
|
|
|
ClinVar: RCV000015122, RCV000790350
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with May-Hegglin anomaly (MATINS; 155100), the May-Hegglin/Fechtner Syndrome Consortium (2000) found that the proband had a heterozygous 279C-G transversion in the MYH9 gene, resulting in an asn93-to-lys (N93K) substitution within the globular head domain. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH NEPHRITIS AND SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH9, ASP1424HIS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338831,
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|
|
|
|
|
|
|
ClinVar: RCV000032223
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with Fechtner syndrome (MATINS; 155100) that had been used to define the critical Fechtner syndrome mapping region (Cusano et al., 2000), the May-Hegglin/Fechtner Syndrome Consortium (2000) found that all affected individuals had a missense mutation in codon 1424 (asp1424 to his; D1424H) within the coiled-coil domain of the MYH9 protein. The mutation resulted from a G-to-C transversion at nucleotide 4270. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH9, ARG702CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338826,
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|
|
|
|
|
|
|
ClinVar: RCV000015129, RCV000523446, RCV000790354, RCV002490369, RCV003147289
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>The May-Hegglin/Fechtner Syndrome Consortium (2000) found that a sporadic case of Fechtner syndrome (MATINS; 155100) (Moxey-Mims et al., 1999) had a missense mutation in codon 702 (arg702 to cys; R702C) of the MYH9 protein, altering the globular head domain. The mutation, which resulted from a C-to-T transition at nucleotide 2104, was not present in either ascertained parent. </p><p>In 1 of the original families (family F) with Epstein syndrome described by Epstein et al. (1972), Heath et al. (2001) found a transition in exon 16 of the MYH9 gene converting codon 702 from CGT (arg) to TGT (cys). Heath et al. (2001) found that the R702C mutation was one of the most frequent, being found in 6 of the 20 families in which they identified a specific mutation. All of the families represented Fechtner syndrome. There was no mention of leukocyte inclusions in the original work-up of this family. For logistic reasons it had been impossible to get a more recent blood sample for checking (Epstein, 2002). </p><p>Seri et al. (2003) identified a heterozygous R702C mutation in a patient with sporadic Fechtner syndrome, 2 unrelated patients with sporadic Epstein syndrome, a patient with sporadic May-Hegglin anomaly, and in affected members of a family with May-Hegglin anomaly and Sebastian syndrome. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH9, THR1155ILE
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|
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|
|
<br />
|
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|
|
SNP: rs121913656,
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|
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|
|
|
|
|
ClinVar: RCV000015124, RCV002513057
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kelley et al. (2000) observed a family in which mother and daughter had May-Hegglin anomaly (MATINS; 155100) caused by a thr1155-to-ile (T1155I) mutation in the MYH9 gene resulting from a C-to-T transition at nucleotide 3464. The mutation was not present in the mother's parents, thus representing a new mutation. Kelley et al. (2000) commented that the T1155I mutation occurs at a conserved site in the rod domain. </p><p>In 2 affected individuals from a family with Fechtner syndrome, Seri et al. (2003) identified a heterozygous T1155I mutation. Seri et al. (2003) concluded that May-Hegglin anomaly and Fechtner syndrome are not distinct entities, but rather represent a single disease with a continuous clinical spectrum. The common abnormality is macrothrombocytopenia and abnormal distribution of MYH9 within leukocytes, even in those without classic Dohle bodies. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DEAFNESS, AUTOSOMAL DOMINANT 17</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH9, ARG705HIS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338828,
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|
|
|
|
|
|
|
ClinVar: RCV000015130, RCV000032218, RCV001659697, RCV005031440
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 5-generation family with autosomal dominant deafness characterized by progressive hearing impairment and cochleosaccular degeneration (DFNA17; 603622) previously described by Lalwani et al. (1997), Lalwani et al. (2000) found a G-to-A transition at nucleotide 2114 in the MYH9 gene. This missense mutation changed codon 705 from an invariant arginine to a histidine within a highly conserved SH1 linker region. Previous studies had shown that modification of amino acid residues within the SH1 helix causes dysfunction of the ATPase activity of the motor domain in myosin II. </p><p>Hildebrand et al. (2006) reported a 5-generation Australian family of Anglo Celtic origin with nonsyndromic DFNA17 due to a heterozygous R705H mutation. The self-reported age of onset ranged from 6 years to the mid-twenties. The hearing loss became severe to profound by the second to third decades, although there was some intrafamilial variability. Five affected individuals received cochlear implants with excellent results. Hildebrand et al. (2006) noted the contrast between the results of cochlear implant in this family and the poor results reported in 1 patient from the family of Lalwani et al. (2000). Hildebrand et al. (2006) speculated that early intervention plays an important role in the therapeutic response. </p><p>In a Brazilian family in which 10 members had nonsyndromic hearing loss at all frequencies, Dantas et al. (2014) identified heterozygosity for the same R705H mutation in the MYH9 gene. The mutation segregated with the phenotype in the family. Three other members of the family with hearing loss at high frequencies did not have the mutation. </p><p>Verver et al. (2015) identified the R705H mutation in MYH9 in 2 unrelated families whose 4 affected individuals had not only hearing impairment, but also what the authors reported as thrombocytopenia, giant platelets, leukocyte inclusions, and mild to moderate elevation of some liver enzymes. They argued that DFNA17 should not be considered a separate genetic entity; however, the 4 affected individuals had platelet counts ranging from 96,000 to 142,000 and 2 had easy bruising, but none had spontaneous bleeding. While liver enzyme elevation was reported, the involvement was defined as ratios of ALT, AST, and GGT with respect to the upper limit of normal. All 4 patients had leukocyte inclusions. Mean platelet diameter varied between 3.8 and 4.5 microns, which is above the upper limit of normal range of 2.6. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
MYH9, ARG702HIS
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338827,
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|
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|
|
|
gnomAD: rs80338827,
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|
|
|
|
|
ClinVar: RCV000015132, RCV000851738, RCV001851865
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</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
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<p>In a European family living in the United States with Fechtner syndrome (MATINS; 155100), Heath et al. (2001) found a transition converting codon 702 from CGT (arg) to CAT (his). The globular head domain of the MYHIIA protein was affected. </p><p>Seri et al. (2002) identified the same R702H mutation in affected members of 2 families, 1 Finnish and 1 Italian, with the phenotype they labeled Epstein syndrome. In the Finnish family, a 22-year-old man and his son were affected. The father had had recurrent nose bleeding from the age of 2 years. The Italian family had 6 affected members in 4 sibships in 3 generations. The proposita was a 35-year-old woman who had been known to be thrombocytopenic, with mild bleeding diathesis, from the age of 7 years. Hearing loss was selective for high tones. No renal problem was mentioned. Her father, however, had required hemodialysis from the age of 28 years and died at the age of 44 from end-stage kidney failure. </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>.0010 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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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MYH9, ASP1424ASN
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<br />
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SNP: rs80338831,
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ClinVar: RCV000015134, RCV000790358, RCV001271110, RCV002466404, RCV002496364, RCV002513058
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</span>
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</div>
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<span class="mim-text-font">
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<p>Deutsch et al. (2003) studied a Swiss family and an American family with the May-Hegglin anomaly/Fechtner syndrome (MATINS; 155100) and found an asp1424-to-asn (D1424N) mutation in the MYH9 gene. Affected members in both families presented with severe thrombocytopenia, as well as characteristic giant platelets and Dohle-like inclusion bodies on blood smear examination. In the Swiss family, 2 affected sisters developed bilateral cataracts at a young age, whereas the third sister and her son had high-tone sensorineural deafness. Two individuals with thrombocytopenia showed no extrahematologic symptoms. None showed signs of nephritis. In the American family, 4 individuals suffered from sensorineural deafness, but no cataracts or nephritis were observed. Haplotype analysis indicated that in this family the mutation was a de novo event in 1 individual. The same mutation had previously been described in a pedigree of Japanese origin and in 2 pedigrees of American origin, most likely as a result of independent mutation events (Heath et al., 2001; Kunishima et al., 2001). Deutsch et al. (2003) demonstrated that the phenotypes result from a highly unstable MYH9 protein. No abnormalities in protein localization or mRNA stability were observed. They hypothesized that haploinsufficiency of MYH9 results in a failure to properly reorganize the cytoskeleton in megakaryocytes as required for efficient platelet production. </p><p>In the proband of the family with macrothrombocytopenia and progressive sensorineural deafness reported by Brodie et al. (1992), Mhatre et al. (2003) identified a heterozygous 4270G-A transition in exon 30 of the MYH9 gene, resulting in the D1424N substitution in the highly conserved coiled-coil region of the protein. </p><p>Seri et al. (2003) identified a heterozygous D1424N mutation in a patient described as having May-Hegglin anomaly and Sebastian syndrome. The authors suggested that the 2 disorders are not separate entities, but rather represent the same disease with a continuous clinical spectrum. </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>.0011 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS</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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MYH9, 1-BP DEL, 5818G
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<br />
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SNP: rs587776808,
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ClinVar: RCV000015131
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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>Kunishima et al. (2005) found a 1-bp deletion, 5818delG, in the MYH9 gene as the cause of May-Hegglin anomaly (MATINS; 155100) in a 1-year-old boy. The deletion resulted in frameshift and premature termination. Kunishima et al. (2005) found that the father was a somatic mosaic for this mutation. The father had normal platelet counts; however, both normal-sized and giant platelets were observed on his peripheral blood smears. In addition, 14% of neutrophils contained inclusion bodies, and the rest showed a normal morphology. Quantitative fluorescent PCR analysis showed that only 6% of DNA from peripheral blood leukocytes harbored the mutation. The mutation was demonstrated in a similar frequency in different tissues, buccal mucosa cells, and hair bulb cells, implying that the mutation had occurred during gastrulation. Kunishima et al. (2005) concluded that mosaicism may account for some de novo mutations in MYH9 disorders. </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>.0012 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS</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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MYH9, SER96LEU
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<br />
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SNP: rs121913657,
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ClinVar: RCV000015138, RCV000477821, RCV000790352, RCV001537286
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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 individuals from 2 unrelated families with Epstein syndrome (MATINS; 155100), Arrondel et al. (2002) identified a heterozygous 287C-T transition in the MYH9 gene, resulting in a ser96-to-leu (S96L) substitution predicted to disturb the helical region of the protein. </p><p>Utsch et al. (2006) identified a de novo heterozygous S96L mutation in an infant girl with features of Epstein syndrome, including macrothrombocytopenia and impaired platelet function but no evidence of hearing loss or nephritis. She also had exstrophy of the bladder (600057). Utsch et al. (2006) noted that although MYH9 mutations had not previously been associated with urogenital malformations, the mutation may have played a role in the bladder exstrophy in this patient. </p><p>By immunofluorescence studies of leukocytes derived from a patient with the S96L mutation, Kunishima et al. (2003) detected abnormal subcellular localization of MYH9, showing a speckled pattern or small dots. Neutrophil inclusions had not been found on conventional Giemsa staining. </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>.0013 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS</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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MYH9, 21-BP DEL
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<br />
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SNP: rs876661302,
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ClinVar: RCV000015139
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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 a patient described as having May-Hegglin anomaly and Sebastian syndrome (MATINS; 155100), Seri et al. (2003) identified a heterozygous 21-bp deletion in the MYH9 gene, resulting in an in-frame deletion of 7 amino acids (E1066-A1072) in the rod domain. De Rocco et al. (2009) identified the reciprocal in-frame duplication in another family (160775.0014). Detailed sequence analysis of this region revealed a 16-nucleotide repeat that was likely responsible for unequal crossing-over. </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>.0014 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS</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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MYH9, 21-BP DUP
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<br />
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SNP: rs876661302,
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ClinVar: RCV000015141
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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 3 affected members of a family with May-Hegglin anomaly (MATINS; 155100), De Rocco et al. (2009) identified a heterozygous 21-bp duplication in exon 24 of the MYH9 gene, resulting in an in-frame duplication of 7 amino acids (E1066-A1072) in the rod domain. All patients had congenital macrothrombocytopenia and Dohle-like inclusion bodies in neutrophils, consistent with May-Hegglin anomaly, and 1 patient also had congenital cataracts, which is part of the phenotypic spectrum of MYH9-related disorders. Seri et al. (2003) identified the reciprocal in-frame deletion in another patient (160775.0013). Detailed sequence analysis of this region revealed a 16-nucleotide repeat that was likely responsible for unequal crossing-over. </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>.0015 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH SENSORINEURAL HEARING LOSS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
MYH9, 18-BP DEL, NT228
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<br />
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SNP: rs2146392848,
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|
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ClinVar: RCV000015142
|
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 45-year-old Japanese man with macrothrombocytopenia and sensorineural deafness (MATINS; 155100), Kunishima et al. (2005) identified a heterozygous 18-bp deletion (228_245del) in exon 1 of the MYH9 gene, resulting in an in-frame deletion of 6 amino acids (asn76 to ser81) in a helix segment adjacent to the SH1 helix. The mutation affected the N-terminal head domain. The patient had no evidence of renal dysfunction or cataract. Leukocyte morphology on conventional Giemsa staining was ambiguous, but immunofluorescence staining showed abnormal subcellular localization of MYH9. The MYH9-positive structures showed a thread-like appearance, not punctuated or granular as often described in other MYH9-related disorders. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Arii, J., Goto, H., Suenaga, T., Oyama, M., Kozuka-Hata, H., Imai, T., Minowa, A., Akashi, H., Arase, H., Kawaoka, Y., Kawaguchi, Y.
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<strong>Non-muscle myoxin IIA is a functional entry receptor for herpes simplex virus-1.</strong>
|
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Nature 467: 859-862, 2010.
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[PubMed: 20944748]
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[Full Text: https://doi.org/10.1038/nature09420]
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Arrondel, C., Vodovar, N., Knebelmann, B., Grunfeld, J.-P., Gubler, M.-C., Antignac, C., Heidet, L.
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<strong>Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.</strong>
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J. Am. Soc. Nephrol. 13: 65-74, 2002.
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[PubMed: 11752022]
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<p class="mim-text-font">
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Balduini, C. L., Pecci, A., Aavoia, A.
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<strong>Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.</strong>
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Brit. J. Haemat. 154: 161-174, 2011.
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[PubMed: 21542825]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2011.08716.x]
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<p class="mim-text-font">
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Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G.
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<strong>Macrothrombocytopenia and progressive deafness: a new genetic syndrome.</strong>
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Am. J. Otol. 13: 507-511, 1992.
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[PubMed: 1449176]
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<p class="mim-text-font">
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Chung, M.-C., Kawamoto, S.
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<strong>IRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression during phorbol ester-induced promyelocytic HL-60 differentiation.</strong>
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J. Biol. Chem. 279: 56042-56052, 2004.
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[PubMed: 15496418]
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[Full Text: https://doi.org/10.1074/jbc.M404791200]
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<p class="mim-text-font">
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Cusano, R., Gangarossa, S., Forabosco, P., Caridi, G., Ghiggeri, G. M., Russo, G., Iolascon, A., Ravazzolo, R., Seri, M.
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<strong>Localisation of the gene responsible for Fechtner syndrome in a region less than 600 Kb on 22q11-q13.</strong>
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Europ. J. Hum. Genet. 8: 895-899, 2000.
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[PubMed: 11093280]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200533]
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<p class="mim-text-font">
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D'Apolito, M., Guarnieri, V., Boncristiano, M., Zelante, L., Savoia, A.
|
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<strong>Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.</strong>
|
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Gene 286: 215-222, 2002.
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[PubMed: 11943476]
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[Full Text: https://doi.org/10.1016/s0378-1119(02)00455-9]
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<p class="mim-text-font">
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Dantas, V. G. L., Lezirovitz, K., Yamamoto, G. L., Moura de Souza, C. F., Ferreira, S. G., Mingroni-Netto, R. C.
|
|
<strong>c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.</strong>
|
|
Genet. Molec. Biol. 37: 616-621, 2014.
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[PubMed: 25505834]
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[Full Text: https://doi.org/10.1590/S1415-47572014005000025]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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De Rocco, D., Pujol-Moix, N., Pecci, A., Faletra, F., Bozzi, V., Balduini, C. L., Savoia, A.
|
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<strong>Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.</strong>
|
|
Europ. J. Med. Genet. 52: 191-194, 2009.
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[PubMed: 19450438]
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[Full Text: https://doi.org/10.1016/j.ejmg.2009.01.006]
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</p>
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<li>
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<p class="mim-text-font">
|
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Deutsch, S., Rideau, A., Bochaton-Piallat, M. L., Merla, G., Geinoz, A., Gabbiani, G., Schwede, T., Matthes, T., Antonarakis, S. E., Beris, P.
|
|
<strong>Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.</strong>
|
|
Blood 102: 529-534, 2003.
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|
[PubMed: 12649151]
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[Full Text: https://doi.org/10.1182/blood-2002-09-2783]
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<p class="mim-text-font">
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Dong, F., Li, S., Pujol-Moix, N., Luban, N. L. C., Shin, S. W., Seo, J. H., Ruiz-Saez, A., Demeter, J., Langdon, S., Kelley, M. J.
|
|
<strong>Genotype-phenotype correlation in MYH9-related thrombocytopenia.</strong>
|
|
Brit. J. Haemat. 130: 620-627, 2005.
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[PubMed: 16098078]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2005.05658.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R.
|
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<strong>Hereditary macrothrombocytopathia, nephritis and deafness.</strong>
|
|
Am. J. Med. 52: 299-310, 1972.
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[PubMed: 5011389]
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[Full Text: https://doi.org/10.1016/0002-9343(72)90017-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Epstein, C. J.
|
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<strong>Personal Communication.</strong>
|
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San Francisco, Ca. 4/16/2002.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hanisch, J., Kolm, R., Wozniczka, M., Bumann, D., Rottner, K., Stradal, T. E. B.
|
|
<strong>Activation of a RhoA/myosin II-dependent but Arp2/3 complex-independent pathway facilitates Salmonella invasion.</strong>
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Verver, E., Pecci, A., De Rocco, D., Ryhanen, S., Barozzi, S., Kunst, H., Topsakal, V., Savoia, A.
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Wilson, C. A., Tsuchida, M. A., Allen, G. M., Barnhart, E. L., Applegate, K. T., Yam, P. T., Ji, L., Keren, K., Danuser, G., Theriot, J. A.
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<strong>Myosin II contributes to cell-scale actin network treadmilling through network disassembly.</strong>
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Ada Hamosh - updated : 06/25/2018<br>Carol A. Bocchini - updated : 06/14/2018<br>Ada Hamosh - updated : 06/13/2018<br>Ada Hamosh - updated : 3/27/2014<br>Paul J. Converse - updated : 3/1/2012<br>Ada Hamosh - updated : 11/11/2010<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Cassandra L. Kniffin - updated : 9/22/2010<br>Ada Hamosh - updated : 6/7/2010<br>George E. Tiller - updated : 7/21/2009<br>Ada Hamosh - updated : 1/16/2009<br>Cassandra L. Kniffin - updated : 6/26/2008<br>Cassandra L. Kniffin - updated : 12/18/2006<br>Patricia A. Hartz - updated : 2/9/2006<br>Victor A. McKusick - updated : 3/21/2005<br>Paul J. Converse - updated : 4/9/2004<br>Victor A. McKusick - updated : 10/15/2003<br>Patricia A. Hartz - updated : 1/16/2003<br>Victor A. McKusick - updated : 5/10/2002<br>Victor A. McKusick - updated : 3/6/2002<br>Victor A. McKusick - updated : 3/4/2002<br>Victor A. McKusick - updated : 11/27/2001<br>Victor A. McKusick - updated : 4/3/2001<br>Victor A. McKusick - updated : 11/21/2000<br>Victor A. McKusick - updated : 8/29/2000
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Victor A. McKusick : 3/1/1990
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