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- *300628 - FERM DOMAIN-CONTAINING PROTEIN 7; FRMD7
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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">*300628</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<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="#geneStructure">Gene Structure</a>
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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="#geneFunction">Gene Function</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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300628">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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</ul>
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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-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=ENSG00000165694;t=ENST00000298542" 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=90167" 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=300628" 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=ENSG00000165694;t=ENST00000298542" 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_001306193,NM_194277,XM_017029947,XM_017029948,XM_017029949" 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_194277" 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=300628" 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=06624&isoform_id=06624_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/FRMD7" 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/34531403,34916000,74749680,109731634,119632190,224555571,807201172,1034675612,1034675614,1034675616,2462631543,2462631545,2462631547" 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/Q6ZUT3" 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=90167" 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=ENSG00000165694;t=ENST00000298542" 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=FRMD7" 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=FRMD7" 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+90167" 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/FRMD7" 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:90167" 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/90167" 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=chrX&hgg_gene=ENST00000298542.9&hgg_start=132076990&hgg_end=132128020&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:8079" 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://medlineplus.gov/genetics/gene/frmd7" 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=300628[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=300628[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/FRMD7/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/ENSG00000165694" 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=FRMD7" 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=FRMD7" 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=FRMD7" 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://www.LOVD.nl/FRMD7" 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=FRMD7&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/PA162388934" 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:8079" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0265082.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2686379" 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/FRMD7#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:2686379" 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/90167/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://www.orthodb.org/?ncbi=90167" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001490;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060825-67" 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://reactome.org/content/query?q=FRMD7&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300628
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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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FERM DOMAIN-CONTAINING PROTEIN 7; FRMD7
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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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<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=FRMD7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FRMD7</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/X/684?start=-3&limit=10&highlight=684">Xq26.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:132076990-132128020&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'})">X:132,076,990-132,128,020</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/684?start=-3&limit=10&highlight=684">
|
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Xq26.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Nystagmus 1, congenital, X-linked
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
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<a href="/entry/310700"> 310700 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
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Nystagmus, infantile periodic alternating, X-linked
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/310700"> 310700 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300628" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300628" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<p><a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> identified the FRMD7 gene within the critical interval for X-linked congenital nystagmus (NYS1; <a href="/entry/310700">310700</a>) on Xq26-q27. The 714-amino acid FRMD7 protein shares close homology with FARP1 (<a href="/entry/602654">602654</a>) and FARP2 (<a href="/entry/617586">617586</a>) that is concentrated at the N terminus of the protein, where B41 and FERM-C domains are present. Expression analysis of FRMD7 showed that the mRNA is present in most tissues at low levels. <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> confirmed this by RT-PCR, detecting expression in human adult kidney, liver, pancreas, and, at low levels, heart and brain. In human fetal tissue, they detected the transcript only in kidney. In situ hybridization experiments in human embryonic brain showed expression in the ventricular layer of the forebrain, midbrain, cerebellum primordium, spinal cord, and developing neural retina in embryos approximately 56 days postovulation. In earlier embryos the expression was restricted to the mid- and hindbrain, regions known to be involved in motor control of eye movement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" 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>The FRMD7 gene comprises 12 exons (<a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" 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>The FRMD7 gene maps to chromosome Xq26.2 (<a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" 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>Using in situ hybridization and immunohistochemistry, <a href="#1" class="mim-tip-reference" title="Betts-Henderson, J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H.-L., Salomoni, P., Gottlob, I., Nicotera, P. <strong>The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.</strong> Hum. Molec. Genet. 19: 342-351, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892780</a>] [<a href="https://doi.org/10.1093/hmg/ddp500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19892780">Betts-Henderson et al. (2010)</a> showed that FRMD7 expression was spatially and temporally regulated in both the human and mouse brain during embryonic and fetal development. Frmd7 expression was upregulated upon retinoic acid (RA)-induced differentiation of mouse neuroblastoma NEURO2A cells, suggesting FRMD7 may play a role in this process. Knockdown of Frmd7 during neuronal differentiation resulted in altered neurite development. <a href="#1" class="mim-tip-reference" title="Betts-Henderson, J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H.-L., Salomoni, P., Gottlob, I., Nicotera, P. <strong>The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.</strong> Hum. Molec. Genet. 19: 342-351, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892780</a>] [<a href="https://doi.org/10.1093/hmg/ddp500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19892780">Betts-Henderson et al. (2010)</a> suggested that FRMD7 may be involved in multiple aspects of neuronal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19892780" 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 in situ hybridization studies of human brain during mid-to-late embryonic stages, <a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> found FRMD7 expression in neuronal tissue in structures involved with the vestibuloocular reflex and optokinetic reflex. Staining was found in the afferent arms of the vestibuloocular reflex consisting of the otic vesicle, cranial nerve VIII, and vestibular ganglia. Expression was also found within the afferent arm of the optokinetic reflex in the developing neural retina and ventricular zone of the optic stalk. Strong FRMD7 expression was seen in rhombomeres 1 to 4, which give rise to the cerebellum and the vestibular nuclei. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21303855" 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="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> screened 16 families with X-linked congenital nystagmus (NYS1; <a href="/entry/310700">310700</a>) using 17 markers extending from Xq26 to Xq27. In all 16 families, marker haplotypes were compatible with linkage to Xq26-q27. Recombinant events in affected males in 1 family refined the location of NYS1 to an interval of approximately 7.5 Mb between markers DXS1047 and DXS1041. The candidate interval contained more than 80 genes. <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> performed high-throughput DNA sequence analysis of all coding exons of all genes within this interval in 1 affected male from each of the 16 linked families. In 15 of the 16 families, mutations were detected in the FRMD7 gene. Screening of 14 families with 2 or more affected individuals identified mutations in 8 (57%). Screening of 42 singleton cases of idiopathic congenital nystagmus (28 males, 14 females) yielded 3 mutations (7%). The homologous protein FARP2 modulates the length and the degree of branching of neurites in rat embryonic cortical neurons and reorganizes the cytoskeleton. As a plausible explanation of how defects in the FRMD7 protein cause nystagmus, <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> hypothesized that null mutations in FRMD7 alter neurite length and degree of branching of neurons as they develop in the midbrain, cerebellum, and retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of families with NYS1, <a href="#10" class="mim-tip-reference" title="Zhang, Q., Xiao, X., Li, S., Guo, X. <strong>FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.</strong> Molec. Vis. 13: 1375-1378, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17768376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17768376</a>]" pmid="17768376">Zhang et al. (2007)</a>, <a href="#7" class="mim-tip-reference" title="Shiels, A., Bennett, T. M., Prince, J. B., Tychsen, L. <strong>X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.</strong> Molec. Vis. 13: 2233-2241, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087240</a>]" pmid="18087240">Shiels et al. (2007)</a>, and <a href="#5" class="mim-tip-reference" title="Kaplan, Y., Vargel, I., Kansu, T., Akin, B., Rohmann, E., Kamaci, S., Uz, E., Ozcelik, T., Wollnik, B., Akarsu, N. A. <strong>Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.</strong> Brit. J. Ophthal. 92: 135-141, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17962394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17962394</a>] [<a href="https://doi.org/10.1136/bjo.2007.128157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17962394">Kaplan et al. (2008)</a> identified different mutations in the FRMD7 gene (<a href="#0006">300628.0006</a>-<a href="#0008">300628.0008</a>). The families were of Chinese, Caucasian, and Turkish origin, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18087240+17768376+17962394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 6 unrelated Chinese families with X-linked congenital nystagmus, <a href="#3" class="mim-tip-reference" title="He, X., Gu, F., Wang, Z., Wang, C., Tong, Y., Wang, Y., Yang, J., Liu, W., Zhang, M., Ma, X. <strong>A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.</strong> Genet. Test 12: 607-613, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19072571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19072571</a>] [<a href="https://doi.org/10.1089/gte.2008.0070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19072571">He et al. (2008)</a> identified a truncating mutation in the FRMD7 gene (1274delTG; <a href="#0009">300628.0009</a>). Haplotype analysis indicated a founder effect. The phenotype was characterized by onset in infancy of horizontal pendular oscillations of both eyes and varying degrees of decreased visual acuity. Some patients had astigmatism. None had abnormal appearance of the fundus or color vision defects. In a review of the literature, <a href="#3" class="mim-tip-reference" title="He, X., Gu, F., Wang, Z., Wang, C., Tong, Y., Wang, Y., Yang, J., Liu, W., Zhang, M., Ma, X. <strong>A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.</strong> Genet. Test 12: 607-613, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19072571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19072571</a>] [<a href="https://doi.org/10.1089/gte.2008.0070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19072571">He et al. (2008)</a> concluded that FRMD7 mutations account for about 47% of X-linked nystagmus in Chinese patients with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19072571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> identified FRMD7 mutations (see, e.g., <a href="#0002">300628.0002</a>, <a href="#0005">300628.0005</a>, <a href="#0010">300628.0010</a>-<a href="#0011">300628.0011</a>) in 26 patients from 10 families in which at least 1 individual had X-linked infantile periodic alternating nystagmus (XIPAN; see <a href="/entry/310700">310700</a>), as well as in 1 singleton patient with the disorder. PAN was not diagnosed clinically in any of the individuals, but was apparent in some mutation carriers after eye movement recordings during prolonged fixation. Several families showed phenotypic heterogeneity, with only some having PAN on eye movement recordings; all had clinical nystagmus. Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. Based on immunohistochemical expression studies in human embryonic brain and phenotypic data, <a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> hypothesized that periodic alternating nystagmus arises from instability of the optokinetic-vestibular systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21303855" 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=300628[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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<p>In a family of Italian/German extraction with X-linked congenital nystagmus (<a href="/entry/310700">310700</a>), <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> found a truncating mutation of the FRMD7 gene: 601C-T, gln201 to stop (Q201X). The predicted truncated protein contained 28% of the wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852208 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852208;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/rs137852208?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=rs137852208" 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=rs137852208" 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 derived from England and India, <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> found that X-linked congenital nystagmus (<a href="/entry/310700">310700</a>) was associated with a nonsense mutation in the FRMD7 gene: 1003C-T, arg335 to stop (R335X). The truncated protein was predicted to contain 47% of wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> identified the R335X mutation in 4 males from 2 unrelated families with X-linked periodic alternating nystagmus (PAN) (see <a href="/entry/310700">310700</a>). Of note, the diagnosis was not made clinically, but only after the use of eye movement recordings during prolonged duration of fixation. Most patients had good visual acuity, but none had a horizontal optokinetic reflex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21303855" 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">rs1928435502 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1928435502;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=rs1928435502" 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=rs1928435502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>Four of 5 splice site mutations found by <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> in cases of X-linked congenital nystagmus (<a href="/entry/310700">310700</a>) were at conserved splice donor residues (position +1 and position +2) and were predicted to be pathologic by classic exon skipping and nonsense-mediated decay. One of these truncating mutations, IVS3+2T-G, was found in a family in England. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" 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">rs137852209 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852209;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=rs137852209" 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=rs137852209" 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=RCV000011532" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011532" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011532</a>
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<p>In a family originating in England, <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> found that X-linked congenital nystagmus (<a href="/entry/310700">310700</a>) was associated with a silent variant of the FRMD7 gene, 252G-A (val84 to val), which created a new splice acceptor site within exon 4 that resulted in the loss of a transcript containing the sequence of exons 1 through 5 and the rare presence of a transcript with exon 4 skipped in lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" 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">rs137852210 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852210;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=rs137852210" 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=rs137852210" 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=RCV000011533 OR RCV001268897" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011533, RCV001268897" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011533...</a>
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<p>In a family from Ireland, <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> found that X-linked congenital nystagmus (<a href="/entry/310700">310700</a>) was associated with a missense mutation of the FRMD7 gene: 70G-A, gly24 to arg (G24R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> identified the G24R mutation in affected members of a large family with X-linked nystagmus reported by <a href="#4" class="mim-tip-reference" title="Hertle, R. W., Yang, D., Kelly, K., Hill, V. M., Atkin, J., Seward, A. <strong>X-linked infantile periodic alternating nystagmus.</strong> Ophthal. Genet. 26: 77-84, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16020310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16020310</a>] [<a href="https://doi.org/10.1080/13816810590968014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16020310">Hertle et al. (2005)</a>. All patients had clinical nystagmus, and all 4 who had eye movement recordings showed periodic alternating nystagmus (PAN) (see <a href="/entry/310700">310700</a>). The mutation was predicted to result in an unstable protein. Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. The mutation occurs in the FERM-N domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21303855+16020310" 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">rs1929191668 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1929191668;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=rs1929191668" 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=rs1929191668" 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=RCV000011534" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011534" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011534</a>
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<p>In affected members of a large Chinese family with X-linked congenital nystagmus (<a href="/entry/310700">310700</a>) reported by <a href="#2" class="mim-tip-reference" title="Guo, X., Li, S., Jia, X., Xiao, X., Wang, P., Zhang, Q. <strong>Linkage analysis of two families with X-linked recessive congenital motor nystagmus.</strong> J. Hum. Genet. 51: 76-80, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240070</a>] [<a href="https://doi.org/10.1007/s10038-005-0316-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240070">Guo et al. (2006)</a>, <a href="#10" class="mim-tip-reference" title="Zhang, Q., Xiao, X., Li, S., Guo, X. <strong>FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.</strong> Molec. Vis. 13: 1375-1378, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17768376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17768376</a>]" pmid="17768376">Zhang et al. (2007)</a> identified an in-frame 3-bp deletion (41delAGA) in exon 1 of the FRMD7 gene, resulting in the deletion of residue lys14. The mutation was not found in 196 normal controls. Obligate female carriers were not affected. <a href="#10" class="mim-tip-reference" title="Zhang, Q., Xiao, X., Li, S., Guo, X. <strong>FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.</strong> Molec. Vis. 13: 1375-1378, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17768376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17768376</a>]" pmid="17768376">Zhang et al. (2007)</a> noted that inheritance in the Chinese family was consistent with X-linked recessive, but that this mutation had been identified by <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a> in an English family with X-linked dominant inheritance. Skewed X inactivation was offered as an explanation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17013395+16240070+17768376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852211 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852211;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/rs137852211?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=rs137852211" 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=rs137852211" 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=RCV000011535 OR RCV001385158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011535, RCV001385158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011535...</a>
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<p>In affected members of 2 unrelated Caucasian families with X-linked infantile nystagmus (<a href="/entry/310700">310700</a>), <a href="#7" class="mim-tip-reference" title="Shiels, A., Bennett, T. M., Prince, J. B., Tychsen, L. <strong>X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.</strong> Molec. Vis. 13: 2233-2241, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087240</a>]" pmid="18087240">Shiels et al. (2007)</a> identified a 425T-G transversion in exon 6 of the FRMD7 gene, resulting in a leu142-to-arg (L142R) substitution. Haplotype analysis confirmed that the 2 families were not related. This mutation had also been identified in an Irish family by <a href="#8" class="mim-tip-reference" title="Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others. <strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong> Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>] [<a href="https://doi.org/10.1038/ng1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17013395">Tarpey et al. (2006)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18087240+17013395" 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">rs137852212 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852212;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=rs137852212" 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=rs137852212" 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=RCV000011536" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011536" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011536</a>
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<p>In affected members of a large Turkish family with X-linked congenital nystagmus (<a href="/entry/310700">310700</a>), <a href="#5" class="mim-tip-reference" title="Kaplan, Y., Vargel, I., Kansu, T., Akin, B., Rohmann, E., Kamaci, S., Uz, E., Ozcelik, T., Wollnik, B., Akarsu, N. A. <strong>Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.</strong> Brit. J. Ophthal. 92: 135-141, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17962394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17962394</a>] [<a href="https://doi.org/10.1136/bjo.2007.128157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17962394">Kaplan et al. (2008)</a> identified a 686C-G transversion in exon 8 of the FRMD7 gene, resulting in an arg229-to-gly (R229G) substitution. There were at least 7 affected females, and molecular studies showed that some had markedly skewed X-chromosome inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17962394" 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">rs2124209414 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2124209414;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=rs2124209414" 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=rs2124209414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 6 unrelated Chinese families with X-linked congenital nystagmus (<a href="/entry/310700">310700</a>), <a href="#3" class="mim-tip-reference" title="He, X., Gu, F., Wang, Z., Wang, C., Tong, Y., Wang, Y., Yang, J., Liu, W., Zhang, M., Ma, X. <strong>A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.</strong> Genet. Test 12: 607-613, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19072571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19072571</a>] [<a href="https://doi.org/10.1089/gte.2008.0070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19072571">He et al. (2008)</a> identified a 2-bp deletion (1274delTG) in exon 12 of the FRMD7 gene, resulting in a frameshift and premature termination. The mutation was not identified in 400 male controls. Haplotype analysis indicated a founder effect. The phenotype was characterized by onset in infancy of horizontal pendular oscillations of both eyes and varying degrees of decreased visual acuity. Some patients had astigmatism. None had abnormal appearance of the fundus or color vision defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19072571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906720 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906720;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/rs387906720?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=rs387906720" 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=rs387906720" 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=RCV000022868 OR RCV002513178" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022868, RCV002513178" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022868...</a>
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<p>In affected members of a 5-generation family with X-linked congenital nystagmus (<a href="/entry/301700">301700</a>), <a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> identified a 691T-G transversion in the FRMD7 gene, resulting in a leu231-to-val (L231V) substitution in the FERM-C domain and predicted to result in protein instability. All affected individuals had clinical nystagmus, and 4 of 5 who had eye movement recordings showed periodic alternating nystagmus (PAN) (see <a href="/entry/301700">301700</a>). Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21303855" 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">rs387906721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906721;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=rs387906721" 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=rs387906721" 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=RCV000022869" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022869" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022869</a>
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<p>In affected members of a 3-generation family with X-linked congenital nystagmus (<a href="/entry/301700">301700</a>), <a href="#9" class="mim-tip-reference" title="Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I. <strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong> Brain 134: 892-902, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awq373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21303855">Thomas et al. (2011)</a> identified an 812G-A transition in the FRMD7 gene, resulting in a cys271-to-tyr (C271Y) substitution in the FERM-C domain and predicted to result in protein instability. All affected individuals had clinical nystagmus, and 3 of 5 who had eye movement recordings showed periodic alternating nystagmus (PAN) (see <a href="/entry/301700">301700</a>). Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21303855" 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">rs1602791884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602791884;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=rs1602791884" 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=rs1602791884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 brothers with X-linked infantile nystagmus (<a href="/entry/310700">310700</a>) from a 3-generation family, <a href="#6" class="mim-tip-reference" title="Khan, A. O., Shinwari, J., Al-Sharif, L., Khalil, D. S., Al Tassan, N. <strong>Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050+5G-A.</strong> Arch. Ophthal. 129: 936-940, 2011. Note: Erratum: Arch. Ophthal. 129: 1217 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21746984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21746984</a>] [<a href="https://doi.org/10.1001/archophthalmol.2011.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21746984">Khan et al. (2011)</a> detected a hemizygous splice variant in intron 11 of the FRMD7 gene (1050+5G-A). In silico analysis predicted that this variant would affect the splice donor site, resulting in a 345-base inclusion of intron 11, a resultant frameshift, and a truncated protein of 372 amino acids. The affected brothers had infantile nystagmus with no evidence of associated visual or neurologic disease. The mutation was also found in 3 asymptomatic female members: a sister, the mother, and the maternal grandmother. All 3 of these had delayed corrective saccades (prolonged pursuit) during optokinetic nystagmus (OKN) drum testing. A brother and the father, who were asymptomatic and did not carry the mutation, had unremarkable examination findings. A symptomatic maternal aunt had infantile nystagmus in addition to congenital fibrosis of the extraocular muscles (CFEOM; see <a href="/entry/135700">135700</a>). Sequencing and allele sharing analysis excluded the FRMD7 mutation in this individual, and her phenotype was also not related to mutation in known CFEOM genes; <a href="#6" class="mim-tip-reference" title="Khan, A. O., Shinwari, J., Al-Sharif, L., Khalil, D. S., Al Tassan, N. <strong>Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050+5G-A.</strong> Arch. Ophthal. 129: 936-940, 2011. Note: Erratum: Arch. Ophthal. 129: 1217 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21746984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21746984</a>] [<a href="https://doi.org/10.1001/archophthalmol.2011.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21746984">Khan et al. (2011)</a> concluded that nystagmus in this individual represented a distinct disorder. <a href="#6" class="mim-tip-reference" title="Khan, A. O., Shinwari, J., Al-Sharif, L., Khalil, D. S., Al Tassan, N. <strong>Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050+5G-A.</strong> Arch. Ophthal. 129: 936-940, 2011. Note: Erratum: Arch. Ophthal. 129: 1217 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21746984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21746984</a>] [<a href="https://doi.org/10.1001/archophthalmol.2011.166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21746984">Khan et al. (2011)</a> concluded that prolonged pursuit responses during OKN drum testing in asymptomatic female carriers was consistent with the concept that infantile nystagmus was an abnormally increased pursuit oscillation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21746984" 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 id="1" class="mim-anchor"></a>
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<a id="Betts-Henderson2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Betts-Henderson, J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H.-L., Salomoni, P., Gottlob, I., Nicotera, P.
|
|
<strong>The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.</strong>
|
|
Hum. Molec. Genet. 19: 342-351, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19892780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp500" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Guo2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Guo, X., Li, S., Jia, X., Xiao, X., Wang, P., Zhang, Q.
|
|
<strong>Linkage analysis of two families with X-linked recessive congenital motor nystagmus.</strong>
|
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J. Hum. Genet. 51: 76-80, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240070" 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/s10038-005-0316-y" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="He2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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He, X., Gu, F., Wang, Z., Wang, C., Tong, Y., Wang, Y., Yang, J., Liu, W., Zhang, M., Ma, X.
|
|
<strong>A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.</strong>
|
|
Genet. Test 12: 607-613, 2008.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19072571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19072571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19072571" 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/10.1089/gte.2008.0070" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Hertle2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hertle, R. W., Yang, D., Kelly, K., Hill, V. M., Atkin, J., Seward, A.
|
|
<strong>X-linked infantile periodic alternating nystagmus.</strong>
|
|
Ophthal. Genet. 26: 77-84, 2005.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16020310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16020310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16020310" 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/10.1080/13816810590968014" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Kaplan2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kaplan, Y., Vargel, I., Kansu, T., Akin, B., Rohmann, E., Kamaci, S., Uz, E., Ozcelik, T., Wollnik, B., Akarsu, N. A.
|
|
<strong>Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.</strong>
|
|
Brit. J. Ophthal. 92: 135-141, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17962394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17962394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17962394" 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/10.1136/bjo.2007.128157" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Khan2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Khan, A. O., Shinwari, J., Al-Sharif, L., Khalil, D. S., Al Tassan, N.
|
|
<strong>Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050+5G-A.</strong>
|
|
Arch. Ophthal. 129: 936-940, 2011. Note: Erratum: Arch. Ophthal. 129: 1217 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21746984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21746984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21746984" 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/10.1001/archophthalmol.2011.166" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Shiels2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shiels, A., Bennett, T. M., Prince, J. B., Tychsen, L.
|
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<strong>X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.</strong>
|
|
Molec. Vis. 13: 2233-2241, 2007.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18087240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18087240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18087240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Tarpey2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others.
|
|
<strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong>
|
|
Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17013395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17013395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17013395" 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/ng1893" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Thomas2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I.
|
|
<strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong>
|
|
Brain 134: 892-902, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21303855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21303855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21303855[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=21303855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awq373" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Zhang2007" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Zhang, Q., Xiao, X., Li, S., Guo, X.
|
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<strong>FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.</strong>
|
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Molec. Vis. 13: 1375-1378, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17768376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17768376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17768376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Jane Kelly - updated : 2/29/2012
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/15/2011<br>George E. Tiller - updated : 12/29/2010<br>Cassandra L. Kniffin - updated : 1/15/2010<br>Cassandra L. Kniffin - updated : 11/21/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Victor A. McKusick : 11/27/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 07/24/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/11/2013<br>terry : 1/2/2013<br>mgross : 3/26/2012<br>alopez : 2/29/2012<br>carol : 11/16/2011<br>ckniffin : 11/15/2011<br>mgross : 8/11/2011<br>wwang : 1/12/2011<br>terry : 12/29/2010<br>carol : 5/4/2010<br>ckniffin : 1/15/2010<br>wwang : 12/2/2008<br>ckniffin : 11/21/2008<br>alopez : 11/27/2006<br>alopez : 11/27/2006
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 300628
|
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</span>
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</h3>
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
FERM DOMAIN-CONTAINING PROTEIN 7; FRMD7
|
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|
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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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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: FRMD7</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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<p>
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xq26.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:132,076,990-132,128,020 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
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<br />
|
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
Xq26.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Nystagmus 1, congenital, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
310700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
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</tr>
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|
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|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Nystagmus, infantile periodic alternating, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
310700
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
X-linked
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</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">
|
|
<p>Tarpey et al. (2006) identified the FRMD7 gene within the critical interval for X-linked congenital nystagmus (NYS1; 310700) on Xq26-q27. The 714-amino acid FRMD7 protein shares close homology with FARP1 (602654) and FARP2 (617586) that is concentrated at the N terminus of the protein, where B41 and FERM-C domains are present. Expression analysis of FRMD7 showed that the mRNA is present in most tissues at low levels. Tarpey et al. (2006) confirmed this by RT-PCR, detecting expression in human adult kidney, liver, pancreas, and, at low levels, heart and brain. In human fetal tissue, they detected the transcript only in kidney. In situ hybridization experiments in human embryonic brain showed expression in the ventricular layer of the forebrain, midbrain, cerebellum primordium, spinal cord, and developing neural retina in embryos approximately 56 days postovulation. In earlier embryos the expression was restricted to the mid- and hindbrain, regions known to be involved in motor control of eye movement. </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">
|
|
<strong>Gene Structure</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">
|
|
<p>The FRMD7 gene comprises 12 exons (Tarpey et al., 2006). </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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<span class="mim-text-font">
|
|
<p>The FRMD7 gene maps to chromosome Xq26.2 (Tarpey et al., 2006). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>Using in situ hybridization and immunohistochemistry, Betts-Henderson et al. (2010) showed that FRMD7 expression was spatially and temporally regulated in both the human and mouse brain during embryonic and fetal development. Frmd7 expression was upregulated upon retinoic acid (RA)-induced differentiation of mouse neuroblastoma NEURO2A cells, suggesting FRMD7 may play a role in this process. Knockdown of Frmd7 during neuronal differentiation resulted in altered neurite development. Betts-Henderson et al. (2010) suggested that FRMD7 may be involved in multiple aspects of neuronal development. </p><p>By in situ hybridization studies of human brain during mid-to-late embryonic stages, Thomas et al. (2011) found FRMD7 expression in neuronal tissue in structures involved with the vestibuloocular reflex and optokinetic reflex. Staining was found in the afferent arms of the vestibuloocular reflex consisting of the otic vesicle, cranial nerve VIII, and vestibular ganglia. Expression was also found within the afferent arm of the optokinetic reflex in the developing neural retina and ventricular zone of the optic stalk. Strong FRMD7 expression was seen in rhombomeres 1 to 4, which give rise to the cerebellum and the vestibular nuclei. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Tarpey et al. (2006) screened 16 families with X-linked congenital nystagmus (NYS1; 310700) using 17 markers extending from Xq26 to Xq27. In all 16 families, marker haplotypes were compatible with linkage to Xq26-q27. Recombinant events in affected males in 1 family refined the location of NYS1 to an interval of approximately 7.5 Mb between markers DXS1047 and DXS1041. The candidate interval contained more than 80 genes. Tarpey et al. (2006) performed high-throughput DNA sequence analysis of all coding exons of all genes within this interval in 1 affected male from each of the 16 linked families. In 15 of the 16 families, mutations were detected in the FRMD7 gene. Screening of 14 families with 2 or more affected individuals identified mutations in 8 (57%). Screening of 42 singleton cases of idiopathic congenital nystagmus (28 males, 14 females) yielded 3 mutations (7%). The homologous protein FARP2 modulates the length and the degree of branching of neurites in rat embryonic cortical neurons and reorganizes the cytoskeleton. As a plausible explanation of how defects in the FRMD7 protein cause nystagmus, Tarpey et al. (2006) hypothesized that null mutations in FRMD7 alter neurite length and degree of branching of neurons as they develop in the midbrain, cerebellum, and retina. </p><p>In affected members of families with NYS1, Zhang et al. (2007), Shiels et al. (2007), and Kaplan et al. (2008) identified different mutations in the FRMD7 gene (300628.0006-300628.0008). The families were of Chinese, Caucasian, and Turkish origin, respectively. </p><p>In affected members of 6 unrelated Chinese families with X-linked congenital nystagmus, He et al. (2008) identified a truncating mutation in the FRMD7 gene (1274delTG; 300628.0009). Haplotype analysis indicated a founder effect. The phenotype was characterized by onset in infancy of horizontal pendular oscillations of both eyes and varying degrees of decreased visual acuity. Some patients had astigmatism. None had abnormal appearance of the fundus or color vision defects. In a review of the literature, He et al. (2008) concluded that FRMD7 mutations account for about 47% of X-linked nystagmus in Chinese patients with the disorder. </p><p>Thomas et al. (2011) identified FRMD7 mutations (see, e.g., 300628.0002, 300628.0005, 300628.0010-300628.0011) in 26 patients from 10 families in which at least 1 individual had X-linked infantile periodic alternating nystagmus (XIPAN; see 310700), as well as in 1 singleton patient with the disorder. PAN was not diagnosed clinically in any of the individuals, but was apparent in some mutation carriers after eye movement recordings during prolonged fixation. Several families showed phenotypic heterogeneity, with only some having PAN on eye movement recordings; all had clinical nystagmus. Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. Based on immunohistochemical expression studies in human embryonic brain and phenotypic data, Thomas et al. (2011) hypothesized that periodic alternating nystagmus arises from instability of the optokinetic-vestibular systems. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>12 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, GLN201TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852207,
|
|
|
|
|
|
|
|
ClinVar: RCV000011529
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family of Italian/German extraction with X-linked congenital nystagmus (310700), Tarpey et al. (2006) found a truncating mutation of the FRMD7 gene: 601C-T, gln201 to stop (Q201X). The predicted truncated protein contained 28% of the wildtype protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, ARG335TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852208,
|
|
|
|
|
|
gnomAD: rs137852208,
|
|
|
|
|
|
ClinVar: RCV000011530, RCV001043923
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family derived from England and India, Tarpey et al. (2006) found that X-linked congenital nystagmus (310700) was associated with a nonsense mutation in the FRMD7 gene: 1003C-T, arg335 to stop (R335X). The truncated protein was predicted to contain 47% of wildtype. </p><p>Thomas et al. (2011) identified the R335X mutation in 4 males from 2 unrelated families with X-linked periodic alternating nystagmus (PAN) (see 310700). Of note, the diagnosis was not made clinically, but only after the use of eye movement recordings during prolonged duration of fixation. Most patients had good visual acuity, but none had a horizontal optokinetic reflex. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, IVS3DS, T-G, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1928435502,
|
|
|
|
|
|
|
|
ClinVar: RCV000011531
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Four of 5 splice site mutations found by Tarpey et al. (2006) in cases of X-linked congenital nystagmus (310700) were at conserved splice donor residues (position +1 and position +2) and were predicted to be pathologic by classic exon skipping and nonsense-mediated decay. One of these truncating mutations, IVS3+2T-G, was found in a family in England. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, VAL84VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852209,
|
|
|
|
|
|
|
|
ClinVar: RCV000011532
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family originating in England, Tarpey et al. (2006) found that X-linked congenital nystagmus (310700) was associated with a silent variant of the FRMD7 gene, 252G-A (val84 to val), which created a new splice acceptor site within exon 4 that resulted in the loss of a transcript containing the sequence of exons 1 through 5 and the rare presence of a transcript with exon 4 skipped in lymphocytes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, GLY24ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852210,
|
|
|
|
|
|
|
|
ClinVar: RCV000011533, RCV001268897
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family from Ireland, Tarpey et al. (2006) found that X-linked congenital nystagmus (310700) was associated with a missense mutation of the FRMD7 gene: 70G-A, gly24 to arg (G24R). </p><p>Thomas et al. (2011) identified the G24R mutation in affected members of a large family with X-linked nystagmus reported by Hertle et al. (2005). All patients had clinical nystagmus, and all 4 who had eye movement recordings showed periodic alternating nystagmus (PAN) (see 310700). The mutation was predicted to result in an unstable protein. Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. The mutation occurs in the FERM-N domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, 3-BP DEL, 41AGA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1929191668,
|
|
|
|
|
|
|
|
ClinVar: RCV000011534
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Chinese family with X-linked congenital nystagmus (310700) reported by Guo et al. (2006), Zhang et al. (2007) identified an in-frame 3-bp deletion (41delAGA) in exon 1 of the FRMD7 gene, resulting in the deletion of residue lys14. The mutation was not found in 196 normal controls. Obligate female carriers were not affected. Zhang et al. (2007) noted that inheritance in the Chinese family was consistent with X-linked recessive, but that this mutation had been identified by Tarpey et al. (2006) in an English family with X-linked dominant inheritance. Skewed X inactivation was offered as an explanation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, LEU142ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852211,
|
|
|
|
|
|
gnomAD: rs137852211,
|
|
|
|
|
|
ClinVar: RCV000011535, RCV001385158
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated Caucasian families with X-linked infantile nystagmus (310700), Shiels et al. (2007) identified a 425T-G transversion in exon 6 of the FRMD7 gene, resulting in a leu142-to-arg (L142R) substitution. Haplotype analysis confirmed that the 2 families were not related. This mutation had also been identified in an Irish family by Tarpey et al. (2006). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, ARG229GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852212,
|
|
|
|
|
|
|
|
ClinVar: RCV000011536
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Turkish family with X-linked congenital nystagmus (310700), Kaplan et al. (2008) identified a 686C-G transversion in exon 8 of the FRMD7 gene, resulting in an arg229-to-gly (R229G) substitution. There were at least 7 affected females, and molecular studies showed that some had markedly skewed X-chromosome inactivation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FRMD7, 2-BP DEL, 1274TG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2124209414,
|
|
|
|
|
|
|
|
ClinVar: RCV000011537
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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<p>In affected members of 6 unrelated Chinese families with X-linked congenital nystagmus (310700), He et al. (2008) identified a 2-bp deletion (1274delTG) in exon 12 of the FRMD7 gene, resulting in a frameshift and premature termination. The mutation was not identified in 400 male controls. Haplotype analysis indicated a founder effect. The phenotype was characterized by onset in infancy of horizontal pendular oscillations of both eyes and varying degrees of decreased visual acuity. Some patients had astigmatism. None had abnormal appearance of the fundus or color vision defects. </p>
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<strong>.0010 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
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NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
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FRMD7, LEU231VAL
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SNP: rs387906720,
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gnomAD: rs387906720,
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ClinVar: RCV000022868, RCV002513178
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<p>In affected members of a 5-generation family with X-linked congenital nystagmus (301700), Thomas et al. (2011) identified a 691T-G transversion in the FRMD7 gene, resulting in a leu231-to-val (L231V) substitution in the FERM-C domain and predicted to result in protein instability. All affected individuals had clinical nystagmus, and 4 of 5 who had eye movement recordings showed periodic alternating nystagmus (PAN) (see 301700). Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. </p>
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<span class="mim-font">
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<strong>.0011 NYSTAGMUS 1, CONGENITAL, X-LINKED</strong>
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NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
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FRMD7, CYS271TYR
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SNP: rs387906721,
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ClinVar: RCV000022869
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<p>In affected members of a 3-generation family with X-linked congenital nystagmus (301700), Thomas et al. (2011) identified an 812G-A transition in the FRMD7 gene, resulting in a cys271-to-tyr (C271Y) substitution in the FERM-C domain and predicted to result in protein instability. All affected individuals had clinical nystagmus, and 3 of 5 who had eye movement recordings showed periodic alternating nystagmus (PAN) (see 301700). Most patients had good visual acuity, but none with PAN had a horizontal optokinetic reflex. </p>
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<span class="mim-font">
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<strong>.0012 NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED</strong>
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FRMD7, IVS11, G-A, +5
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SNP: rs1602791884,
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ClinVar: RCV000022870
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<span class="mim-text-font">
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<p>In 2 brothers with X-linked infantile nystagmus (310700) from a 3-generation family, Khan et al. (2011) detected a hemizygous splice variant in intron 11 of the FRMD7 gene (1050+5G-A). In silico analysis predicted that this variant would affect the splice donor site, resulting in a 345-base inclusion of intron 11, a resultant frameshift, and a truncated protein of 372 amino acids. The affected brothers had infantile nystagmus with no evidence of associated visual or neurologic disease. The mutation was also found in 3 asymptomatic female members: a sister, the mother, and the maternal grandmother. All 3 of these had delayed corrective saccades (prolonged pursuit) during optokinetic nystagmus (OKN) drum testing. A brother and the father, who were asymptomatic and did not carry the mutation, had unremarkable examination findings. A symptomatic maternal aunt had infantile nystagmus in addition to congenital fibrosis of the extraocular muscles (CFEOM; see 135700). Sequencing and allele sharing analysis excluded the FRMD7 mutation in this individual, and her phenotype was also not related to mutation in known CFEOM genes; Khan et al. (2011) concluded that nystagmus in this individual represented a distinct disorder. Khan et al. (2011) concluded that prolonged pursuit responses during OKN drum testing in asymptomatic female carriers was consistent with the concept that infantile nystagmus was an abnormally increased pursuit oscillation. </p>
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<h4>
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<span class="mim-font">
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<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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<ol>
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Betts-Henderson, J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H.-L., Salomoni, P., Gottlob, I., Nicotera, P.
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<strong>The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development.</strong>
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Hum. Molec. Genet. 19: 342-351, 2010.
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[PubMed: 19892780]
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[Full Text: https://doi.org/10.1093/hmg/ddp500]
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Guo, X., Li, S., Jia, X., Xiao, X., Wang, P., Zhang, Q.
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<strong>Linkage analysis of two families with X-linked recessive congenital motor nystagmus.</strong>
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J. Hum. Genet. 51: 76-80, 2006.
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[PubMed: 16240070]
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[Full Text: https://doi.org/10.1007/s10038-005-0316-y]
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<p class="mim-text-font">
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He, X., Gu, F., Wang, Z., Wang, C., Tong, Y., Wang, Y., Yang, J., Liu, W., Zhang, M., Ma, X.
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<strong>A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.</strong>
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Genet. Test 12: 607-613, 2008.
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[PubMed: 19072571]
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[Full Text: https://doi.org/10.1089/gte.2008.0070]
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</p>
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<li>
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<p class="mim-text-font">
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Hertle, R. W., Yang, D., Kelly, K., Hill, V. M., Atkin, J., Seward, A.
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<strong>X-linked infantile periodic alternating nystagmus.</strong>
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Ophthal. Genet. 26: 77-84, 2005.
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[PubMed: 16020310]
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[Full Text: https://doi.org/10.1080/13816810590968014]
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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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Kaplan, Y., Vargel, I., Kansu, T., Akin, B., Rohmann, E., Kamaci, S., Uz, E., Ozcelik, T., Wollnik, B., Akarsu, N. A.
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<strong>Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.</strong>
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Brit. J. Ophthal. 92: 135-141, 2008.
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[PubMed: 17962394]
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[Full Text: https://doi.org/10.1136/bjo.2007.128157]
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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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Khan, A. O., Shinwari, J., Al-Sharif, L., Khalil, D. S., Al Tassan, N.
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<strong>Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050+5G-A.</strong>
|
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Arch. Ophthal. 129: 936-940, 2011. Note: Erratum: Arch. Ophthal. 129: 1217 only, 2011.
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[PubMed: 21746984]
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[Full Text: https://doi.org/10.1001/archophthalmol.2011.166]
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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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Shiels, A., Bennett, T. M., Prince, J. B., Tychsen, L.
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<strong>X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.</strong>
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Molec. Vis. 13: 2233-2241, 2007.
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[PubMed: 18087240]
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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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Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C. J., Roberts, E. O., Awan, M., Surendran, M., McLean, R. J., Reinecke, R. D., Langmann, A., and 30 others.
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<strong>Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.</strong>
|
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Nature Genet. 38: 1242-1244, 2006. Note: Erratum: Nature Genet. 43: 720 only, 2011.
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[PubMed: 17013395]
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[Full Text: https://doi.org/10.1038/ng1893]
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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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Thomas, M. G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C. J., McLean, R. J., Surendran, M., Taylor, K., Leroy, B. P., Moore, A. T., Hunter, D. G., Hertle, R. W., Tarpey, P., Langmann, A., Lindner, S., Brandner, M., Gottlob, I.
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<strong>The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.</strong>
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Brain 134: 892-902, 2011.
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[PubMed: 21303855]
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[Full Text: https://doi.org/10.1093/brain/awq373]
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<li>
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<p class="mim-text-font">
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Zhang, Q., Xiao, X., Li, S., Guo, X.
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<strong>FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.</strong>
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Molec. Vis. 13: 1375-1378, 2007.
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[PubMed: 17768376]
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Jane Kelly - updated : 2/29/2012<br>Cassandra L. Kniffin - updated : 11/15/2011<br>George E. Tiller - updated : 12/29/2010<br>Cassandra L. Kniffin - updated : 1/15/2010<br>Cassandra L. Kniffin - updated : 11/21/2008
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