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<title>
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Entry
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- *609427 - LHFPL TETRASPAN SUBFAMILY, MEMBER 5; LHFPL5
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</form>
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<p />
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*609427</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/609427">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000197753;t=ENST00000360215" 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=222662" 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=609427" 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=ENSG00000197753;t=ENST00000360215" 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_182548" 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_182548" 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=609427" 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=13989&isoform_id=13989_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/LHFPL5" 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/20306956,32698930,74751349,119624257,193785225" 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/Q8TAF8" 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=222662" 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=ENSG00000197753;t=ENST00000360215" 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=LHFPL5" 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=LHFPL5" 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+222662" 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/LHFPL5" 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:222662" 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/222662" 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=chr6&hgg_gene=ENST00000360215.3&hgg_start=35805352&hgg_end=35824070&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:21253" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609427[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=609427[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://gnomad.broadinstitute.org/gene/ENSG00000197753" 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=LHFPL5" 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=LHFPL5" 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=LHFPL5" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LHFPL5&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/PA134943389" 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:21253" 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/FBgn0262624.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:1915382" 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/LHFPL5#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:1915382" 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/222662/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=222662" 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=WBGene00009155;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-080220-51" 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=LHFPL5&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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609427
|
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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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LHFPL TETRASPAN SUBFAMILY, MEMBER 5; LHFPL5
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LHFP-LIKE PROTEIN 5<br />
|
|
TETRASPAN MEMBRANE PROTEIN OF HAIR CELL STEREOCILIA; TMHS
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LHFPL5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LHFPL5</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/6/434?start=-3&limit=10&highlight=434">6p21.31</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:35805352-35824070&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'})">6:35,805,352-35,824,070</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/434?start=-3&limit=10&highlight=434">
|
|
6p21.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Deafness, autosomal recessive 67
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610265"> 610265 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>The spontaneous hurry-scurry (hscy) mutation in mice causes deafness and vestibular dysfunction. <a href="#4" class="mim-tip-reference" title="Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R. <strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong> Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15905332">Longo-Guess et al. (2005)</a> positionally cloned the gene mutated in hscy mice, Lhfpl5, which they called Tmhs. The deduced 216-amino acid protein contains 4 transmembrane domains. Northern blot analysis of several adult mouse tissues detected Tmhs only in brain. Immunofluorescent localization showed no significant Tmhs in brain sections, but there was intense fluorescence in the inner ear, particularly on stereocilia of both inner and outer hair cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15905332" 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="#4" class="mim-tip-reference" title="Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R. <strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong> Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15905332">Longo-Guess et al. (2005)</a> determined that the mouse Lhfpl5 gene contains 4 exons and spans 7.9 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15905332" 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="#4" class="mim-tip-reference" title="Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R. <strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong> Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15905332">Longo-Guess et al. (2005)</a> mapped the mouse Lhfpl5 gene to a region of chromosome 17 that shows homology of synteny to human chromosome 6p21.31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15905332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Pakistani family with autosomal recessive nonsyndromic hearing loss that mapped to 6p22.3 and was designated DFNB67 (<a href="/entry/610265">610265</a>), <a href="#5" class="mim-tip-reference" title="Shabbir, M. I., Ahmed, Z. M., Khan, S. Y., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B., Riazuddin, S. <strong>Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss.</strong> J. Med. Genet. 43: 634-640, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16459341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16459341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16459341[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/10.1136/jmg.2005.039834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16459341">Shabbir et al. (2006)</a> identified a 246delC mutation in the LHFPL5 gene predicted to cause a truncation of the protein at residue 84 (<a href="#0001">609427.0001</a>). In 2 large Turkish consanguineous families, <a href="#1" class="mim-tip-reference" title="Kalay, E., Li, Y., Uzumcu, A., Uyguner, O., Collin, R. W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F. F. J., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., and 16 others. <strong>Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.</strong> Hum. Mutat. 27: 633-639, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752389</a>] [<a href="https://doi.org/10.1002/humu.20368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752389">Kalay et al. (2006)</a> found a homozygous 1-bp deletion (<a href="#0003">609427.0003</a>) and a missense mutation (<a href="#0004">609427.0004</a>), respectively, in the LHFPL5 gene. Mutation screening of the homologous LHFPL3 (<a href="/entry/609719">609719</a>) and LHFPL4 (<a href="/entry/610240">610240</a>) genes did not reveal any disease-causing mutation. The findings suggested that LHFPL5 is essential for normal function of the human cochlea. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752389+16459341" 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 12 children from 9 families on Reunion Island with congenital deafness and vestibular dysfunction, <a href="#3" class="mim-tip-reference" title="Lerat, J., Bonnet, C., Cartault, F., Loundon, N., Jacquemont, M. L., Darcel, F., Rouillon, I., Mezouaghi, K., Guichet, A., Litzler, J., Gesny, R., Gherbi, S., Aissa, I. B., Digeon, F. S. J., Garabedian, E. N., Bonnefont, J. P., Genin, E., Denoyelle, F., Jonard, L., Marlin, S. <strong>High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.</strong> Clin. Genet. 95: 177-181, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30298622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30298622</a>] [<a href="https://doi.org/10.1111/cge.13460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30298622">Lerat et al. (2019)</a> identified homozygous or compound heterozygous mutations in the LHFPL5 gene: a 1-bp deletion (c.185delT; <a href="#0005">609427.0005</a>) and a missense mutation (R158W; <a href="#0006">609427.0006</a>). The variants segregated with disease in the families, and genotype analysis revealed c.185delT to be a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30298622" 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="#4" class="mim-tip-reference" title="Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R. <strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong> Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15905332">Longo-Guess et al. (2005)</a> stated that the overt phenotype of hscy mice consists of circling behavior, frequent head shaking for side to side, and an inability to swim. Mutant mice also show no response to auditory stimuli. By examining cochlear cross-sections, <a href="#4" class="mim-tip-reference" title="Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R. <strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong> Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15905332">Longo-Guess et al. (2005)</a> found that hscy mice have severe degeneration of the organ of Corti. They identified a G-to-T transversion at nucleotide 482 of the Tmhs gene, resulting in a cys161-to-phe substitution, as the cause of the hscy phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15905332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R. <strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong> Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15905332">Longo-Guess et al. (2005)</a> found that deafness and vestibular function in the 'hurry-scurry' (hscy) mouse is associated with a homozygous cys161-to-phe mutation in the Lhfpl5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15905332" 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> rs779841884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs779841884;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/rs779841884?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=rs779841884" 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=rs779841884" 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=RCV000001762 OR RCV001291454" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001762, RCV001291454" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001762...</a>
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<p>In a consanguineous Pakistani family, <a href="#5" class="mim-tip-reference" title="Shabbir, M. I., Ahmed, Z. M., Khan, S. Y., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B., Riazuddin, S. <strong>Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss.</strong> J. Med. Genet. 43: 634-640, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16459341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16459341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16459341[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/10.1136/jmg.2005.039834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16459341">Shabbir et al. (2006)</a> found that nonsyndromic hearing loss mapping to 6p21.3 (DFNB67; <a href="/entry/610265">610265</a>) was associated with a homozygous deletion in the LHFPL5 gene, 246delC, leading to an unchanged pro83 followed by a stop codon (Pro83ProfsTer1). Even if the mRNA was not decayed, the truncated protein would lack 3 of its 4 transmembrane domains and thus would most likely show loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16459341" 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> rs104893975 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893975;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/rs104893975?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=rs104893975" 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=rs104893975" 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 consanguineous Pakistani family, <a href="#5" class="mim-tip-reference" title="Shabbir, M. I., Ahmed, Z. M., Khan, S. Y., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B., Riazuddin, S. <strong>Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss.</strong> J. Med. Genet. 43: 634-640, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16459341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16459341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16459341[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/10.1136/jmg.2005.039834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16459341">Shabbir et al. (2006)</a> found that autosomal recessive nonsyndromic hearing loss (DFNB67; <a href="/entry/610265">610265</a>) was associated with homozygosity for a missense mutation in the LHFPL5 gene: tyr127 to cys (Y127C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16459341" 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">rs1581972457 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1581972457;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=rs1581972457" 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=rs1581972457" 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=RCV000001764 OR RCV001813935" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001764, RCV001813935" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001764...</a>
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<p>In a large Turkish consanguineous family, <a href="#1" class="mim-tip-reference" title="Kalay, E., Li, Y., Uzumcu, A., Uyguner, O., Collin, R. W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F. F. J., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., and 16 others. <strong>Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.</strong> Hum. Mutat. 27: 633-639, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752389</a>] [<a href="https://doi.org/10.1002/humu.20368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752389">Kalay et al. (2006)</a> found that autosomal recessive nonsyndromic hearing loss (DFNB67; <a href="/entry/610265">610265</a>) was associated with homozygosity for a 1-bp deletion in exon 2 of the LHFPL5 gene: 649delG (Glu216ArgfsTer26). Further screening of index patients from 96 Turkish autosomal recessive nonsyndromic hearing loss families and 90 Dutch patients identified 1 additional Turkish patient carrying the 649delG mutation. Haplotype analysis revealed that the mutation was present on the same haplotype in both families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104893976 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893976;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/rs104893976?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=rs104893976" 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=rs104893976" 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=RCV000001765 OR RCV003964787 OR RCV004719609" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001765, RCV003964787, RCV004719609" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001765...</a>
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<p>In a consanguineous Turkish family, <a href="#1" class="mim-tip-reference" title="Kalay, E., Li, Y., Uzumcu, A., Uyguner, O., Collin, R. W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F. F. J., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., and 16 others. <strong>Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.</strong> Hum. Mutat. 27: 633-639, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752389</a>] [<a href="https://doi.org/10.1002/humu.20368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752389">Kalay et al. (2006)</a> found that autosomal recessive nonsyndromic hearing loss (DFNB67; <a href="/entry/610265">610265</a>) was associated with a 494C-T transition in exon 2 of the LHFPL5 gene that caused a thr165-to-met substitution (T165M). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004771554" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004771554" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004771554</a>
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<p>In 7 unrelated children from Reunion Island with congenital profound deafness and vestibular dysfunction (DNFB67; <a href="/entry/610265">610265</a>), <a href="#3" class="mim-tip-reference" title="Lerat, J., Bonnet, C., Cartault, F., Loundon, N., Jacquemont, M. L., Darcel, F., Rouillon, I., Mezouaghi, K., Guichet, A., Litzler, J., Gesny, R., Gherbi, S., Aissa, I. B., Digeon, F. S. J., Garabedian, E. N., Bonnefont, J. P., Genin, E., Denoyelle, F., Jonard, L., Marlin, S. <strong>High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.</strong> Clin. Genet. 95: 177-181, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30298622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30298622</a>] [<a href="https://doi.org/10.1111/cge.13460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30298622">Lerat et al. (2019)</a> identified homozygosity for a 1-bp deletion (c.185delT) in the LHFPL5 gene, causing a frameshift predicted to result in a premature termination codon (Phe62SerfsTer23). In 5 children from 2 additional families on Reunion Island (families 1 and 2) with deafness and vestibular dysfunction, they identified compound heterozygosity for c.185delT and a c.472C-T transition in LHFPL5, resulting in an arg158-to-trp (R158W; <a href="#0006">609427.0006</a>) substitution. The variants segregated with disease in the families. Genotype analysis revealed c.185delT to be a founder mutation; the authors identified the ancestor couple common to all 9 families as Alexis and Brigitte, born in 1693 on Reunion Island, but whose parents arrived from mainland France on 2 different boats, in 1665 and 1674. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30298622" 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>For discussion of the c.472C-T transition in the LHFPL5 gene, resulting in an arg158-to-trp (R158W) substitution, that was found in compound heterozygous state in 5 children from 2 families from Reunion Island (families 1 and 2) with profound congenital deafness and vestibular dysfunction (DFNB67; <a href="/entry/610265">610265</a>) by <a href="#3" class="mim-tip-reference" title="Lerat, J., Bonnet, C., Cartault, F., Loundon, N., Jacquemont, M. L., Darcel, F., Rouillon, I., Mezouaghi, K., Guichet, A., Litzler, J., Gesny, R., Gherbi, S., Aissa, I. B., Digeon, F. S. J., Garabedian, E. N., Bonnefont, J. P., Genin, E., Denoyelle, F., Jonard, L., Marlin, S. <strong>High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.</strong> Clin. Genet. 95: 177-181, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30298622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30298622</a>] [<a href="https://doi.org/10.1111/cge.13460" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30298622">Lerat et al. (2019)</a>, see <a href="#0005">609427.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30298622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The R158W variant had previously been reported by <a href="#2" class="mim-tip-reference" title="Komara, M., John, A., Suleiman, J., Ali, B. R., Al-Gazali, L. <strong>Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.</strong> Am. J. Med. Genet. 170A: 540-543, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26437881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26437881</a>] [<a href="https://doi.org/10.1002/ajmg.a.37421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26437881">Komara et al. (2016)</a> in homozygosity in a Yemeni girl with bilateral profound sensorineural hearing loss who also had cerebellar ataxia-2 (CAMRQ2; <a href="/entry/610185">610185</a>) and homozygous mutation in the WDR81 gene (<a href="/entry/614218#0002">614218.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26437881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Kalay2006" class="mim-anchor"></a>
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Kalay, E., Li, Y., Uzumcu, A., Uyguner, O., Collin, R. W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F. F. J., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., and 16 others.
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<strong>Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.</strong>
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Hum. Mutat. 27: 633-639, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20368" target="_blank">Full Text</a>]
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<a id="Komara2016" class="mim-anchor"></a>
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Komara, M., John, A., Suleiman, J., Ali, B. R., Al-Gazali, L.
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<strong>Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.</strong>
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Am. J. Med. Genet. 170A: 540-543, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26437881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26437881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26437881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37421" target="_blank">Full Text</a>]
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<a id="Lerat2019" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lerat, J., Bonnet, C., Cartault, F., Loundon, N., Jacquemont, M. L., Darcel, F., Rouillon, I., Mezouaghi, K., Guichet, A., Litzler, J., Gesny, R., Gherbi, S., Aissa, I. B., Digeon, F. S. J., Garabedian, E. N., Bonnefont, J. P., Genin, E., Denoyelle, F., Jonard, L., Marlin, S.
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<strong>High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.</strong>
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Clin. Genet. 95: 177-181, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30298622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30298622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30298622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13460" target="_blank">Full Text</a>]
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Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R.
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<strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong>
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Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15905332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15905332</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15905332[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=15905332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0500760102" target="_blank">Full Text</a>]
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Shabbir, M. I., Ahmed, Z. M., Khan, S. Y., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B., Riazuddin, S.
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<strong>Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss.</strong>
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J. Med. Genet. 43: 634-640, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16459341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16459341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16459341[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=16459341" 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/jmg.2005.039834" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/23/2024
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<span class="mim-text-font">
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Victor A. McKusick - updated : 7/13/2006
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Creation Date:
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<span class="mim-text-font">
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Patricia A. Hartz : 6/17/2005
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carol : 10/23/2024
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carol : 04/05/2021<br>carol : 11/27/2018<br>carol : 06/11/2018<br>carol : 08/25/2006<br>alopez : 7/19/2006<br>terry : 7/13/2006<br>mgross : 6/17/2005
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<strong>*</strong> 609427
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LHFPL TETRASPAN SUBFAMILY, MEMBER 5; LHFPL5
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<em>Alternative titles; symbols</em>
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LHFP-LIKE PROTEIN 5<br />
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TETRASPAN MEMBRANE PROTEIN OF HAIR CELL STEREOCILIA; TMHS
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<strong><em>HGNC Approved Gene Symbol: LHFPL5</em></strong>
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Cytogenetic location: 6p21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:35,805,352-35,824,070 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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6p21.31
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<span class="mim-font">
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Deafness, autosomal recessive 67
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<span class="mim-font">
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610265
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>The spontaneous hurry-scurry (hscy) mutation in mice causes deafness and vestibular dysfunction. Longo-Guess et al. (2005) positionally cloned the gene mutated in hscy mice, Lhfpl5, which they called Tmhs. The deduced 216-amino acid protein contains 4 transmembrane domains. Northern blot analysis of several adult mouse tissues detected Tmhs only in brain. Immunofluorescent localization showed no significant Tmhs in brain sections, but there was intense fluorescence in the inner ear, particularly on stereocilia of both inner and outer hair cells. </p>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<p>Longo-Guess et al. (2005) determined that the mouse Lhfpl5 gene contains 4 exons and spans 7.9 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Longo-Guess et al. (2005) mapped the mouse Lhfpl5 gene to a region of chromosome 17 that shows homology of synteny to human chromosome 6p21.31. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In a Pakistani family with autosomal recessive nonsyndromic hearing loss that mapped to 6p22.3 and was designated DFNB67 (610265), Shabbir et al. (2006) identified a 246delC mutation in the LHFPL5 gene predicted to cause a truncation of the protein at residue 84 (609427.0001). In 2 large Turkish consanguineous families, Kalay et al. (2006) found a homozygous 1-bp deletion (609427.0003) and a missense mutation (609427.0004), respectively, in the LHFPL5 gene. Mutation screening of the homologous LHFPL3 (609719) and LHFPL4 (610240) genes did not reveal any disease-causing mutation. The findings suggested that LHFPL5 is essential for normal function of the human cochlea. </p><p>In 12 children from 9 families on Reunion Island with congenital deafness and vestibular dysfunction, Lerat et al. (2019) identified homozygous or compound heterozygous mutations in the LHFPL5 gene: a 1-bp deletion (c.185delT; 609427.0005) and a missense mutation (R158W; 609427.0006). The variants segregated with disease in the families, and genotype analysis revealed c.185delT to be a founder mutation. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Longo-Guess et al. (2005) stated that the overt phenotype of hscy mice consists of circling behavior, frequent head shaking for side to side, and an inability to swim. Mutant mice also show no response to auditory stimuli. By examining cochlear cross-sections, Longo-Guess et al. (2005) found that hscy mice have severe degeneration of the organ of Corti. They identified a G-to-T transversion at nucleotide 482 of the Tmhs gene, resulting in a cys161-to-phe substitution, as the cause of the hscy phenotype. </p><p>Longo-Guess et al. (2005) found that deafness and vestibular function in the 'hurry-scurry' (hscy) mouse is associated with a homozygous cys161-to-phe mutation in the Lhfpl5 gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LHFPL5, 1-BP DEL, 246C
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<br />
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SNP: rs779841884,
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gnomAD: rs779841884,
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ClinVar: RCV000001762, RCV001291454
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a consanguineous Pakistani family, Shabbir et al. (2006) found that nonsyndromic hearing loss mapping to 6p21.3 (DFNB67; 610265) was associated with a homozygous deletion in the LHFPL5 gene, 246delC, leading to an unchanged pro83 followed by a stop codon (Pro83ProfsTer1). Even if the mRNA was not decayed, the truncated protein would lack 3 of its 4 transmembrane domains and thus would most likely show loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LHFPL5, TYR127CYS
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<br />
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SNP: rs104893975,
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gnomAD: rs104893975,
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ClinVar: RCV000001763
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a consanguineous Pakistani family, Shabbir et al. (2006) found that autosomal recessive nonsyndromic hearing loss (DFNB67; 610265) was associated with homozygosity for a missense mutation in the LHFPL5 gene: tyr127 to cys (Y127C). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LHFPL5, 1-BP DEL, 649G
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<br />
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SNP: rs1581972457,
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ClinVar: RCV000001764, RCV001813935
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a large Turkish consanguineous family, Kalay et al. (2006) found that autosomal recessive nonsyndromic hearing loss (DFNB67; 610265) was associated with homozygosity for a 1-bp deletion in exon 2 of the LHFPL5 gene: 649delG (Glu216ArgfsTer26). Further screening of index patients from 96 Turkish autosomal recessive nonsyndromic hearing loss families and 90 Dutch patients identified 1 additional Turkish patient carrying the 649delG mutation. Haplotype analysis revealed that the mutation was present on the same haplotype in both families. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0004 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LHFPL5, THR165MET
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<br />
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SNP: rs104893976,
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gnomAD: rs104893976,
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ClinVar: RCV000001765, RCV003964787, RCV004719609
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a consanguineous Turkish family, Kalay et al. (2006) found that autosomal recessive nonsyndromic hearing loss (DFNB67; 610265) was associated with a 494C-T transition in exon 2 of the LHFPL5 gene that caused a thr165-to-met substitution (T165M). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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LHFPL5, 1-BP DEL, 185T
|
|
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|
<br />
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|
|
ClinVar: RCV004771554
|
|
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|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 unrelated children from Reunion Island with congenital profound deafness and vestibular dysfunction (DNFB67; 610265), Lerat et al. (2019) identified homozygosity for a 1-bp deletion (c.185delT) in the LHFPL5 gene, causing a frameshift predicted to result in a premature termination codon (Phe62SerfsTer23). In 5 children from 2 additional families on Reunion Island (families 1 and 2) with deafness and vestibular dysfunction, they identified compound heterozygosity for c.185delT and a c.472C-T transition in LHFPL5, resulting in an arg158-to-trp (R158W; 609427.0006) substitution. The variants segregated with disease in the families. Genotype analysis revealed c.185delT to be a founder mutation; the authors identified the ancestor couple common to all 9 families as Alexis and Brigitte, born in 1693 on Reunion Island, but whose parents arrived from mainland France on 2 different boats, in 1665 and 1674. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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|
</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DEAFNESS, AUTOSOMAL RECESSIVE 67</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LHFPL5, ARG158TRP
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV004771555
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.472C-T transition in the LHFPL5 gene, resulting in an arg158-to-trp (R158W) substitution, that was found in compound heterozygous state in 5 children from 2 families from Reunion Island (families 1 and 2) with profound congenital deafness and vestibular dysfunction (DFNB67; 610265) by Lerat et al. (2019), see 609427.0005. </p><p>The R158W variant had previously been reported by Komara et al. (2016) in homozygosity in a Yemeni girl with bilateral profound sensorineural hearing loss who also had cerebellar ataxia-2 (CAMRQ2; 610185) and homozygous mutation in the WDR81 gene (614218.0002). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Kalay, E., Li, Y., Uzumcu, A., Uyguner, O., Collin, R. W., Caylan, R., Ulubil-Emiroglu, M., Kersten, F. F. J., Hafiz, G., van Wijk, E., Kayserili, H., Rohmann, E., and 16 others.
|
|
<strong>Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.</strong>
|
|
Hum. Mutat. 27: 633-639, 2006.
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[PubMed: 16752389]
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[Full Text: https://doi.org/10.1002/humu.20368]
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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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Komara, M., John, A., Suleiman, J., Ali, B. R., Al-Gazali, L.
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<strong>Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.</strong>
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Am. J. Med. Genet. 170A: 540-543, 2016.
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[PubMed: 26437881]
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[Full Text: https://doi.org/10.1002/ajmg.a.37421]
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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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Lerat, J., Bonnet, C., Cartault, F., Loundon, N., Jacquemont, M. L., Darcel, F., Rouillon, I., Mezouaghi, K., Guichet, A., Litzler, J., Gesny, R., Gherbi, S., Aissa, I. B., Digeon, F. S. J., Garabedian, E. N., Bonnefont, J. P., Genin, E., Denoyelle, F., Jonard, L., Marlin, S.
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<strong>High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.</strong>
|
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Clin. Genet. 95: 177-181, 2019.
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[PubMed: 30298622]
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[Full Text: https://doi.org/10.1111/cge.13460]
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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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Longo-Guess, C. M., Gagnon, L. H., Cook, S. A., Wu, J., Zheng, Q. Y., Johnson, K. R.
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<strong>A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.</strong>
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Proc. Nat. Acad. Sci. 102: 7894-7899, 2005.
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[PubMed: 15905332]
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[Full Text: https://doi.org/10.1073/pnas.0500760102]
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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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Shabbir, M. I., Ahmed, Z. M., Khan, S. Y., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B., Riazuddin, S.
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<strong>Mutations of human TMHS cause recessively inherited nonsyndromic hearing loss.</strong>
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J. Med. Genet. 43: 634-640, 2006.
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[PubMed: 16459341]
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[Full Text: https://doi.org/10.1136/jmg.2005.039834]
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</p>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/23/2024<br>Victor A. McKusick - updated : 7/13/2006
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</span>
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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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Patricia A. Hartz : 6/17/2005
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/23/2024<br>carol : 04/05/2021<br>carol : 11/27/2018<br>carol : 06/11/2018<br>carol : 08/25/2006<br>alopez : 7/19/2006<br>terry : 7/13/2006<br>mgross : 6/17/2005
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