3319 lines
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Entry
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- #304500 - DEAFNESS, X-LINKED 1; DFNX1
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- OMIM
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<p>
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<span class="h4">#304500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/304500"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS304500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" 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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in 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://clinicaltrials.gov/search?cond=DEAFNESS, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12045&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1434/" title="Genetic Hearing Loss Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Genetic Hearing Loss Overv…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK2591/" title="Phosphoribosylpyrophosphate Synthetase Deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Phosphoribosylpyrophosphat…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/8195" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=304500[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90625" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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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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</a>
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</span>
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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/disease/DOID:0111739" 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="http://www.informatics.jax.org/disease/304500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111739" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 90625<br />
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<strong>DO:</strong> 0111739<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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304500
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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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DEAFNESS, X-LINKED 1; DFNX1
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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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</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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DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFN2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/X/552?start=-3&limit=10&highlight=552">
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Xq22.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Deafness, X-linked 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/304500"> 304500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PRPS1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> 311850 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/304500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS304500" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/304500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/304500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, sensorineural <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
|
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|
|
|
|
|
</div>
|
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|
|
</div>
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|
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age at onset, ranging from prelingual at birth to fifth decade<br /> -
|
|
Males tend to have earlier onset than females<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the phosphoribosylpyrophosphate synthetase-1 gene (PRPS1, <a href="/entry/311850#0013">311850.0013</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Deafness, X-linked
|
|
- <a href="/phenotypicSeries/PS304500">PS304500</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/111?start=-3&limit=10&highlight=111"> Xp22.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300066"> Deafness, X-linked 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300066"> 300066 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300226"> SMPX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300226"> 300226 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/138?start=-3&limit=10&highlight=138"> Xp21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300030"> Deafness, X-linked 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300030"> 300030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300030"> DFNX3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300030"> 300030 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/465?start=-3&limit=10&highlight=465"> Xq21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304400"> Deafness, X-linked 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304400"> 304400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300039"> POU3F4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300039"> 300039 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/517?start=-3&limit=10&highlight=517"> Xq22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301018"> ?Deafness, X-linked 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301018"> 301018 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300969"> GPRASP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300969"> 300969 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304500"> Deafness, X-linked 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304500"> 304500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> PRPS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> 311850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/559?start=-3&limit=10&highlight=559"> Xq22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300914"> ?Deafness, X-linked 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<p>A number sign (#) is used with this entry because of evidence that X-linked deafness-1 (DFNX1) is caused by loss-of-function mutation in the PRPS1 gene (<a href="/entry/311850">311850</a>) on chromosome Xq22.</p><p>Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; <a href="/entry/311070">311070</a>) and Arts syndrome (ARTS; <a href="/entry/301835">301835</a>). There is considerable phenotypic overlap between DFNX1, CMTX5, and Arts syndrome, as well as intrafamilial variability depending on gender, X-inactivation ratio, residual enzyme activity, and additional factors. Males tend to be more severely affected than females in all 3 disorders, although some females can show severe features. These disorders are best considered as representing a phenotypic spectrum (summary by <a href="#1" class="mim-tip-reference" title="Almoguera, B., He, S., Corton, M., Fernandez-San Jose, P., Blanco-Kelly, F., Lopez-Molina, M. I., Garcia-Sandoval, B., del Val, J., Guo, Y., Tian, L., Liu, X., Guan, L., Torres, R. J., Puig, J. G., Hakonarson, H., Xu, X., Keating, B., Ayuso, C. <strong>Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.</strong> Orphanet J. Rare Dis. 9: 190, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25491489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25491489</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25491489[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/10.1186/s13023-014-0190-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25491489">Almoguera et al., 2014</a>; <a href="#18" class="mim-tip-reference" title="Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L. <strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong> Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24528855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24528855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24528855[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/10.1186/1750-1172-9-24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24528855">Synofzik et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24528855+25491489" 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>Another allelic disorder, PRPS-related gout (<a href="/entry/300661">300661</a>), results from increased PRPS1 enzyme activity. Some affected patients also have neurologic symptoms, including sensorineural deafness.</p>
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<p><a href="#19" class="mim-tip-reference" title="Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M. <strong>Mapping of DFN2 to Xq22.</strong> Hum. Molec. Genet. 5: 2055-2060, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>] [<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968763">Tyson et al. (1996)</a> reevaluated a 4-generation British American family with congenital profound sensorineural hearing loss in males, similar to that ascribed to the previously unmapped locus DFN2. In this family, female carriers had a mild/moderate hearing loss affecting the high frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> studied 14 affected and 29 unaffected members of a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss. Age at onset of hearing impairment was between 5 and 15 years for males and in the fifth decade for females. Affected males exhibited symmetric, progressive, severe-to-profound hearing loss with flat-shaped audio profiles at 24 years to 50 years of age. Obligate female carriers had either symmetric or asymmetric hearing loss that varied from mild to moderate in degree. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20021999" 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="#18" class="mim-tip-reference" title="Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L. <strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong> Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24528855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24528855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24528855[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/10.1186/1750-1172-9-24" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24528855">Synofzik et al. (2014)</a> reported a German family with variable manifestations of PRPS1 deficiency, illustrating that the disorder can present as a continuous spectrum of clinical features, even within the same family. A 42-year-old woman had only prelingual-onset hearing loss without symptoms of neurologic dysfunction, consistent with DFNX1, whereas her 36-year-old brother had a protracted form of Arts syndrome, including prelingual sensorineural hearing loss. Brain imaging in both patients showed mild cerebellar and parietal cortical atrophy. The mother of these sibs had no hearing deficit or neurologic dysfunction at age 66. Genetic analysis identified a missense mutation in the PRPS1 gene (Q277P; <a href="/entry/311850#0019">311850.0019</a>) that was heterozygous in the females and hemizygous in the male proband. Erythrocyte PRPS1 activity was not detectable in the proband, was decreased in the sister, and was normal in the mother. X-chromosome inactivation was extremely skewed in the sister with DFNX1 (94%; 6%), but only moderately skewed in the mother (80%; 20%). The findings indicated that females with DFNX1 can also show early-onset hearing loss starting at birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24528855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis using polymorphic microsatellite markers in a 4-generation British American family with congenital sensorineural hearing loss, <a href="#19" class="mim-tip-reference" title="Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M. <strong>Mapping of DFN2 to Xq22.</strong> Hum. Molec. Genet. 5: 2055-2060, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>] [<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968763">Tyson et al. (1996)</a> found that the DFN2 locus maps to Xq22. A maximum 2-point lod score of 2.91 at theta = 0.0 was observed with a fully informative dinucleotide repeat at COL4A5 (<a href="/entry/303630">303630</a>), which had previously been mapped to Xq22, and flanking recombinations were observed at DXS990 and DXS1001. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss, <a href="#7" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> performed linkage analysis and obtained a maximum 2-point lod score of 4.25 with marker DXS8096 (theta = 0). Recombination events defined a 5.4-cM critical interval between DXS8020 and DXS8055, overlapping the DFN2 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20021999" 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 large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss mapping to the DFN2 locus, <a href="#7" class="mim-tip-reference" title="Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others. <strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong> Am. J. Hum. Genet. 86: 65-71, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.11.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20021999">Liu et al. (2010)</a> analyzed 14 candidate genes and identified a missense mutation in the PRPS1 gene (D65N; <a href="/entry/311850#0013">311850.0013</a>) that cosegregated with the phenotype. Analysis of the PRPS1 gene in the British American DFN2 family previously reported by <a href="#19" class="mim-tip-reference" title="Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M. <strong>Mapping of DFN2 to Xq22.</strong> Hum. Molec. Genet. 5: 2055-2060, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>] [<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968763">Tyson et al. (1996)</a> revealed a different missense mutation (A87T; <a href="/entry/311850#0014">311850.0014</a>); missense mutations were also detected in DFN2 families previously reported by <a href="#8" class="mim-tip-reference" title="Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G. <strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong> Am. J. Otol. 20: 621-626, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10503584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10503584</a>]" pmid="10503584">Manolis et al. (1999)</a> and <a href="#2" class="mim-tip-reference" title="Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L. <strong>Refinement of the locus for non-syndromic sensorineural deafness (DFN2)</strong> J. Genet. 83: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15240907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15240907</a>] [<a href="https://doi.org/10.1007/BF02715827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15240907">Cui et al. (2004)</a> (<a href="/entry/311850#0015">311850.0015</a> and <a href="/entry/311850#0016">311850.0016</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20021999+10503584+15240907+8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Italian brothers with postlingual DFNX1, <a href="#16" class="mim-tip-reference" title="Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G. <strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong> Europ. J. Hum. Genet. 23: 766-773, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25182139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25182139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25182139[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25182139">Robusto et al. (2015)</a> identified a hemizygous missense mutation in the PRPS1 gene (A113S; <a href="/entry/311850#0021">311850.0021</a>). The mother, who had late-onset moderate hearing loss, was heterozygous for the mutation. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Erythrocyte PRPS1 activity was mildly decreased in the 2 affected males (25-35% of normal controls). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25182139" 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="#12" class="mim-tip-reference" title="Petersen, M. B., Wang, Q., Willems, P. J. <strong>Sex-linked deafness.</strong> Clin. Genet. 73: 14-23, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005182</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18005182">Petersen et al. (2008)</a> proposed the designation DFNX1 for this locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005182" 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>There are many early reports of an X-linked form of congenital deafness (e.g., <a href="#4" class="mim-tip-reference" title="Dow, G. S., Poynter, C. I. <strong>The Dar family.</strong> Eugen. News 15: 128-130, 1930."None>Dow and Poynter, 1930</a>; <a href="#10" class="mim-tip-reference" title="Mitsuda, H., Inoue, S., Kazama, Y. <strong>Eine Familie mit rezessiv geschlechtsgebundener Taubstummheit.</strong> Jpn. J. Hum. Genet. 27: 142 only, 1952."None>Mitsuda et al., 1952</a>; Stevenson, cited by <a href="#3" class="mim-tip-reference" title="Deraemaeker, R. <strong>Sex-linked congenital deafness.</strong> Acta Genet. Statist. Med. 8: 228-231, 1958."None>Deraemaeker, 1958</a>; <a href="#3" class="mim-tip-reference" title="Deraemaeker, R. <strong>Sex-linked congenital deafness.</strong> Acta Genet. Statist. Med. 8: 228-231, 1958."None>Deraemaeker, 1958</a>; <a href="#17" class="mim-tip-reference" title="Sataloff, J., Pastore, P. N., Bloom, E. <strong>Sex-linked hereditary deafness.</strong> Am. J. Hum. Genet. 7: 201-203, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14388008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14388008</a>]" pmid="14388008">Sataloff et al., 1955</a>; <a href="#11" class="mim-tip-reference" title="Parker, N. <strong>Congenital deafness due to a sex-linked recessive gene.</strong> Am. J. Hum. Genet. 10: 196-200, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13533396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13533396</a>]" pmid="13533396">Parker, 1958</a>; <a href="#5" class="mim-tip-reference" title="Fraser, G. R. <strong>Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.</strong> Ann. Hum. Genet. 29: 171-196, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5865628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5865628</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1965.tb00512.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5865628">Fraser, 1965</a>). In the family reported by <a href="#4" class="mim-tip-reference" title="Dow, G. S., Poynter, C. I. <strong>The Dar family.</strong> Eugen. News 15: 128-130, 1930."None>Dow and Poynter (1930)</a>, 4 affected males married deaf-mute women who probably had the autosomal recessive form of the disease because no children were affected. The deafness is of the sensorineural type. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5865628+13533396+14388008" 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>William Wilde (1815-1876), the father of Oscar Wilde and a distinguished ear, nose, and throat surgeon, conducted a large survey of deafness in Ireland in 1851 (<a href="#21" class="mim-tip-reference" title="Wilde, W. R. <strong>Practical Observations on Aural Surgery and the Nature and Diagnosis of Diseases of the Ear.</strong> London: Churchill (pub.) 1853."None>Wilde, 1853</a>). In his report he noted that 'the proportion of male deaf mutes exceeds the female considerably but it differs somewhat in the 2 great classes of congenital and acquired deafness.' In the Wilde data, the ratio of males to females was 100:75 for congenital deafness and 100:91 for acquired deafness. <a href="#14" class="mim-tip-reference" title="Reardon, W. <strong>Sex linked deafness: Wilde revisited.</strong> J. Med. Genet. 27: 376-379, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359100</a>] [<a href="https://doi.org/10.1136/jmg.27.6.376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2359100">Reardon (1990)</a> reanalyzed the data from the Wilde survey and suggested that 5% of congenital male deafness was the result of X-linked inheritance. The result correlated well with the estimate of <a href="#5" class="mim-tip-reference" title="Fraser, G. R. <strong>Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.</strong> Ann. Hum. Genet. 29: 171-196, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5865628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5865628</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1965.tb00512.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5865628">Fraser (1965)</a> that X-linked inheritance accounts for 6.2% of male genetic deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2359100+5865628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Wellesley, D., Goldblatt, J. <strong>A new form of X-linked, high-frequency, sensorineural deafness.</strong> Clin. Genet. 41: 79-81, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544216</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03637.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544216">Wellesley and Goldblatt (1992)</a> reported a kindred in which 5 male members of 3 generations connected through normal females had an identical nonprogressive isolated form of sensorineural hearing loss. Audiograms in 2 brothers, who were noted at age 3 and 4, respectively, to have speech difficulties, showed hearing loss in the 1,500-8,000 Hz range. A maternal uncle had not been aware of any hearing problem, but was found on audiogram to have hearing loss in the 4,000-8,000 Hz range. Two maternal great-uncles who had worked in the motor industry and had received compensation for apparent work-related noise damage had only a vague history of poor hearing; their audiograms showed identical hearing loss to that in the young brothers. <a href="#20" class="mim-tip-reference" title="Wellesley, D., Goldblatt, J. <strong>A new form of X-linked, high-frequency, sensorineural deafness.</strong> Clin. Genet. 41: 79-81, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544216</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03637.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544216">Wellesley and Goldblatt (1992)</a> noted that the finding of only affected males with no male-to-male transmission supports X-linked inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1544216" 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>Many families with congenital sensorineural deafness are found to have the gusher-deafness syndrome (<a href="/entry/304400">304400</a>) with typical radiologic changes in the temporal bone (<a href="#13" class="mim-tip-reference" title="Reardon, W., Middleton-Price, H. R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M. E., Malcolm, S. <strong>A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.</strong> Genomics 11: 885-894, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783396</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90011-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1783396">Reardon et al., 1991</a>). Some congenital sensorineural deafness may represent the entity that <a href="#6" class="mim-tip-reference" title="Lalwani, A. K., Brister, J. R., Fex, J., Grundfast, K. M., Pikus, A. T., Ploplis, B., San/Agustin, T., Skarka, H., Wilcox, E. R. <strong>A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.</strong> Am. J. Hum. Genet. 55: 685-694, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942846</a>]" pmid="7942846">Lalwani et al. (1994)</a> found to be linked to Xp21.2; see <a href="/entry/300030">300030</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7942846+1783396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Willems, P. J. <strong>Genetic causes of hearing loss.</strong> New Eng. J. Med. 342: 1101-1109, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760311</a>] [<a href="https://doi.org/10.1056/NEJM200004133421506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10760311">Willems (2000)</a> reviewd the genetic causes of nonsyndromic sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10760311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#McRae1969" class="mim-tip-reference" title="McRae, K. N., Uchida, I. A., Lewis, M., Denniston, C. <strong>Sex-linked congenital deafness.</strong> Am. J. Hum. Genet. 21: 415-422, 1969.">McRae et al. (1969)</a>; <a href="#Richards1963" class="mim-tip-reference" title="Richards, B. W. <strong>Sex-linked deaf-mutism.</strong> Ann. Hum. Genet. 26: 195-199, 1963.">Richards (1963)</a>
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Almoguera, B., He, S., Corton, M., Fernandez-San Jose, P., Blanco-Kelly, F., Lopez-Molina, M. I., Garcia-Sandoval, B., del Val, J., Guo, Y., Tian, L., Liu, X., Guan, L., Torres, R. J., Puig, J. G., Hakonarson, H., Xu, X., Keating, B., Ayuso, C.
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<strong>Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.</strong>
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Orphanet J. Rare Dis. 9: 190, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25491489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25491489</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25491489[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=25491489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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J. Genet. 83: 35-38, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15240907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15240907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15240907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Acta Genet. Statist. Med. 8: 228-231, 1958.
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Fraser, G. R.
|
|
<strong>Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.</strong>
|
|
Ann. Hum. Genet. 29: 171-196, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5865628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5865628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5865628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1965.tb00512.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Lalwani1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lalwani, A. K., Brister, J. R., Fex, J., Grundfast, K. M., Pikus, A. T., Ploplis, B., San/Agustin, T., Skarka, H., Wilcox, E. R.
|
|
<strong>A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.</strong>
|
|
Am. J. Hum. Genet. 55: 685-694, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7942846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Liu2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others.
|
|
<strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong>
|
|
Am. J. Hum. Genet. 86: 65-71, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20021999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20021999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20021999[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=20021999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2009.11.015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Manolis1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G.
|
|
<strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong>
|
|
Am. J. Otol. 20: 621-626, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10503584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10503584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10503584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="McRae1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McRae, K. N., Uchida, I. A., Lewis, M., Denniston, C.
|
|
<strong>Sex-linked congenital deafness.</strong>
|
|
Am. J. Hum. Genet. 21: 415-422, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5822288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5822288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5822288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Mitsuda1952" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mitsuda, H., Inoue, S., Kazama, Y.
|
|
<strong>Eine Familie mit rezessiv geschlechtsgebundener Taubstummheit.</strong>
|
|
Jpn. J. Hum. Genet. 27: 142 only, 1952.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Parker1958" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Parker, N.
|
|
<strong>Congenital deafness due to a sex-linked recessive gene.</strong>
|
|
Am. J. Hum. Genet. 10: 196-200, 1958.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13533396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13533396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13533396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Petersen2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petersen, M. B., Wang, Q., Willems, P. J.
|
|
<strong>Sex-linked deafness.</strong>
|
|
Clin. Genet. 73: 14-23, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18005182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18005182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18005182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00913.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Reardon1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reardon, W., Middleton-Price, H. R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M. E., Malcolm, S.
|
|
<strong>A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.</strong>
|
|
Genomics 11: 885-894, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1783396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1783396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1783396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(91)90011-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Reardon1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reardon, W.
|
|
<strong>Sex linked deafness: Wilde revisited.</strong>
|
|
J. Med. Genet. 27: 376-379, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.27.6.376" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Richards1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Richards, B. W.
|
|
<strong>Sex-linked deaf-mutism.</strong>
|
|
Ann. Hum. Genet. 26: 195-199, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13982090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13982090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13982090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1963.tb01975.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Robusto2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G.
|
|
<strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong>
|
|
Europ. J. Hum. Genet. 23: 766-773, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25182139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25182139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25182139[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=25182139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2014.168" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Sataloff1955" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sataloff, J., Pastore, P. N., Bloom, E.
|
|
<strong>Sex-linked hereditary deafness.</strong>
|
|
Am. J. Hum. Genet. 7: 201-203, 1955.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14388008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14388008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14388008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Synofzik2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L.
|
|
<strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong>
|
|
Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24528855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24528855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24528855[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=24528855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1186/1750-1172-9-24" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Tyson1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M.
|
|
<strong>Mapping of DFN2 to Xq22.</strong>
|
|
Hum. Molec. Genet. 5: 2055-2060, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/5.12.2055" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Wellesley1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wellesley, D., Goldblatt, J.
|
|
<strong>A new form of X-linked, high-frequency, sensorineural deafness.</strong>
|
|
Clin. Genet. 41: 79-81, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1544216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03637.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Wilde1853" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilde, W. R.
|
|
<strong>Practical Observations on Aural Surgery and the Nature and Diagnosis of Diseases of the Ear.</strong>
|
|
London: Churchill (pub.) 1853.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Willems2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Willems, P. J.
|
|
<strong>Genetic causes of hearing loss.</strong>
|
|
New Eng. J. Med. 342: 1101-1109, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10760311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM200004133421506" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
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|
|
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Cassandra L. Kniffin - updated : 2/10/2016
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Marla J. F. O'Neill - updated : 2/26/2010<br>Cassandra L. Kniffin - updated : 3/17/2008<br>Victor A. McKusick - updated : 5/25/2000<br>Victor A. McKusick - updated : 11/13/1997<br>Victor A. McKusick - updated : 3/6/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 03/13/2023
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alopez : 09/23/2016<br>carol : 03/02/2016<br>carol : 3/1/2016<br>ckniffin : 2/10/2016<br>carol : 2/20/2014<br>terry : 4/2/2010<br>carol : 2/26/2010<br>wwang : 3/18/2008<br>ckniffin : 3/17/2008<br>carol : 3/18/2004<br>carol : 5/8/2002<br>carol : 8/24/2001<br>carol : 5/25/2000<br>mark : 11/13/1997<br>terry : 11/12/1997<br>jenny : 3/6/1997<br>terry : 2/13/1997<br>mark : 10/23/1996<br>mark : 10/18/1996<br>mark : 10/18/1996<br>terry : 1/31/1995<br>pfoster : 7/19/1994<br>supermim : 3/17/1992<br>carol : 7/5/1990<br>supermim : 3/20/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 304500
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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DEAFNESS, X-LINKED 1; DFNX1
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFN2
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 90625;
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<strong>DO:</strong> 0111739;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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Xq22.3
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</span>
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</td>
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<span class="mim-font">
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Deafness, X-linked 1
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</td>
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<span class="mim-font">
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304500
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<span class="mim-font">
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X-linked
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</span>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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PRPS1
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<span class="mim-font">
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311850
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that X-linked deafness-1 (DFNX1) is caused by loss-of-function mutation in the PRPS1 gene (311850) on chromosome Xq22.</p><p>Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5; 311070) and Arts syndrome (ARTS; 301835). There is considerable phenotypic overlap between DFNX1, CMTX5, and Arts syndrome, as well as intrafamilial variability depending on gender, X-inactivation ratio, residual enzyme activity, and additional factors. Males tend to be more severely affected than females in all 3 disorders, although some females can show severe features. These disorders are best considered as representing a phenotypic spectrum (summary by Almoguera et al., 2014; Synofzik et al., 2014). </p><p>Another allelic disorder, PRPS-related gout (300661), results from increased PRPS1 enzyme activity. Some affected patients also have neurologic symptoms, including sensorineural deafness.</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Tyson et al. (1996) reevaluated a 4-generation British American family with congenital profound sensorineural hearing loss in males, similar to that ascribed to the previously unmapped locus DFN2. In this family, female carriers had a mild/moderate hearing loss affecting the high frequencies. </p><p>Liu et al. (2010) studied 14 affected and 29 unaffected members of a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss. Age at onset of hearing impairment was between 5 and 15 years for males and in the fifth decade for females. Affected males exhibited symmetric, progressive, severe-to-profound hearing loss with flat-shaped audio profiles at 24 years to 50 years of age. Obligate female carriers had either symmetric or asymmetric hearing loss that varied from mild to moderate in degree. </p><p>Synofzik et al. (2014) reported a German family with variable manifestations of PRPS1 deficiency, illustrating that the disorder can present as a continuous spectrum of clinical features, even within the same family. A 42-year-old woman had only prelingual-onset hearing loss without symptoms of neurologic dysfunction, consistent with DFNX1, whereas her 36-year-old brother had a protracted form of Arts syndrome, including prelingual sensorineural hearing loss. Brain imaging in both patients showed mild cerebellar and parietal cortical atrophy. The mother of these sibs had no hearing deficit or neurologic dysfunction at age 66. Genetic analysis identified a missense mutation in the PRPS1 gene (Q277P; 311850.0019) that was heterozygous in the females and hemizygous in the male proband. Erythrocyte PRPS1 activity was not detectable in the proband, was decreased in the sister, and was normal in the mother. X-chromosome inactivation was extremely skewed in the sister with DFNX1 (94%; 6%), but only moderately skewed in the mother (80%; 20%). The findings indicated that females with DFNX1 can also show early-onset hearing loss starting at birth. </p>
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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>By linkage analysis using polymorphic microsatellite markers in a 4-generation British American family with congenital sensorineural hearing loss, Tyson et al. (1996) found that the DFN2 locus maps to Xq22. A maximum 2-point lod score of 2.91 at theta = 0.0 was observed with a fully informative dinucleotide repeat at COL4A5 (303630), which had previously been mapped to Xq22, and flanking recombinations were observed at DXS990 and DXS1001. </p><p>In a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss, Liu et al. (2010) performed linkage analysis and obtained a maximum 2-point lod score of 4.25 with marker DXS8096 (theta = 0). Recombination events defined a 5.4-cM critical interval between DXS8020 and DXS8055, overlapping the DFN2 locus. </p>
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</span>
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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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<span class="mim-text-font">
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<p>In a large 5-generation Chinese family segregating X-linked nonsyndromic hearing loss mapping to the DFN2 locus, Liu et al. (2010) analyzed 14 candidate genes and identified a missense mutation in the PRPS1 gene (D65N; 311850.0013) that cosegregated with the phenotype. Analysis of the PRPS1 gene in the British American DFN2 family previously reported by Tyson et al. (1996) revealed a different missense mutation (A87T; 311850.0014); missense mutations were also detected in DFN2 families previously reported by Manolis et al. (1999) and Cui et al. (2004) (311850.0015 and 311850.0016, respectively). </p><p>In 2 Italian brothers with postlingual DFNX1, Robusto et al. (2015) identified a hemizygous missense mutation in the PRPS1 gene (A113S; 311850.0021). The mother, who had late-onset moderate hearing loss, was heterozygous for the mutation. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Erythrocyte PRPS1 activity was mildly decreased in the 2 affected males (25-35% of normal controls). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>Petersen et al. (2008) proposed the designation DFNX1 for this locus. </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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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>There are many early reports of an X-linked form of congenital deafness (e.g., Dow and Poynter, 1930; Mitsuda et al., 1952; Stevenson, cited by Deraemaeker, 1958; Deraemaeker, 1958; Sataloff et al., 1955; Parker, 1958; Fraser, 1965). In the family reported by Dow and Poynter (1930), 4 affected males married deaf-mute women who probably had the autosomal recessive form of the disease because no children were affected. The deafness is of the sensorineural type. </p><p>William Wilde (1815-1876), the father of Oscar Wilde and a distinguished ear, nose, and throat surgeon, conducted a large survey of deafness in Ireland in 1851 (Wilde, 1853). In his report he noted that 'the proportion of male deaf mutes exceeds the female considerably but it differs somewhat in the 2 great classes of congenital and acquired deafness.' In the Wilde data, the ratio of males to females was 100:75 for congenital deafness and 100:91 for acquired deafness. Reardon (1990) reanalyzed the data from the Wilde survey and suggested that 5% of congenital male deafness was the result of X-linked inheritance. The result correlated well with the estimate of Fraser (1965) that X-linked inheritance accounts for 6.2% of male genetic deafness. </p><p>Wellesley and Goldblatt (1992) reported a kindred in which 5 male members of 3 generations connected through normal females had an identical nonprogressive isolated form of sensorineural hearing loss. Audiograms in 2 brothers, who were noted at age 3 and 4, respectively, to have speech difficulties, showed hearing loss in the 1,500-8,000 Hz range. A maternal uncle had not been aware of any hearing problem, but was found on audiogram to have hearing loss in the 4,000-8,000 Hz range. Two maternal great-uncles who had worked in the motor industry and had received compensation for apparent work-related noise damage had only a vague history of poor hearing; their audiograms showed identical hearing loss to that in the young brothers. Wellesley and Goldblatt (1992) noted that the finding of only affected males with no male-to-male transmission supports X-linked inheritance. </p><p>Many families with congenital sensorineural deafness are found to have the gusher-deafness syndrome (304400) with typical radiologic changes in the temporal bone (Reardon et al., 1991). Some congenital sensorineural deafness may represent the entity that Lalwani et al. (1994) found to be linked to Xp21.2; see 300030. </p><p>Willems (2000) reviewd the genetic causes of nonsyndromic sensorineural hearing loss. </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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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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McRae et al. (1969); Richards (1963)
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Almoguera, B., He, S., Corton, M., Fernandez-San Jose, P., Blanco-Kelly, F., Lopez-Molina, M. I., Garcia-Sandoval, B., del Val, J., Guo, Y., Tian, L., Liu, X., Guan, L., Torres, R. J., Puig, J. G., Hakonarson, H., Xu, X., Keating, B., Ayuso, C.
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<strong>Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.</strong>
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Orphanet J. Rare Dis. 9: 190, 2014. Note: Electronic Article.
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[PubMed: 25491489]
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[Full Text: https://doi.org/10.1186/s13023-014-0190-9]
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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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Cui, B., Zhang, H., Lu, Y., Zhong, W., Pei, G., Kong, X., Hu, L.
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<strong>Refinement of the locus for non-syndromic sensorineural deafness (DFN2)</strong>
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J. Genet. 83: 35-38, 2004.
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[PubMed: 15240907]
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[Full Text: https://doi.org/10.1007/BF02715827]
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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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Deraemaeker, R.
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<strong>Sex-linked congenital deafness.</strong>
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Acta Genet. Statist. Med. 8: 228-231, 1958.
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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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Dow, G. S., Poynter, C. I.
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<strong>The Dar family.</strong>
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Eugen. News 15: 128-130, 1930.
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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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Fraser, G. R.
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<strong>Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.</strong>
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Ann. Hum. Genet. 29: 171-196, 1965.
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[PubMed: 5865628]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1965.tb00512.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lalwani, A. K., Brister, J. R., Fex, J., Grundfast, K. M., Pikus, A. T., Ploplis, B., San/Agustin, T., Skarka, H., Wilcox, E. R.
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<strong>A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.</strong>
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Am. J. Hum. Genet. 55: 685-694, 1994.
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[PubMed: 7942846]
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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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Liu, X., Han, D., Li, J., Han, B., Ouyang, X., Cheng, J., Li, X., Jin, Z., Wang, Y., Bitner-Glindzicz, M., Kong, X., Xu, H., and 10 others.
|
|
<strong>Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.</strong>
|
|
Am. J. Hum. Genet. 86: 65-71, 2010.
|
|
|
|
|
|
[PubMed: 20021999]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2009.11.015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manolis, E. N., Eavey, R. D., Sangwatanaroj, S., Halpin, C., Rosenbaum, S., Watkins, H., Jarcho, J., Seidman, C. E., Seidman, J. G.
|
|
<strong>Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.</strong>
|
|
Am. J. Otol. 20: 621-626, 1999.
|
|
|
|
|
|
[PubMed: 10503584]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McRae, K. N., Uchida, I. A., Lewis, M., Denniston, C.
|
|
<strong>Sex-linked congenital deafness.</strong>
|
|
Am. J. Hum. Genet. 21: 415-422, 1969.
|
|
|
|
|
|
[PubMed: 5822288]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mitsuda, H., Inoue, S., Kazama, Y.
|
|
<strong>Eine Familie mit rezessiv geschlechtsgebundener Taubstummheit.</strong>
|
|
Jpn. J. Hum. Genet. 27: 142 only, 1952.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parker, N.
|
|
<strong>Congenital deafness due to a sex-linked recessive gene.</strong>
|
|
Am. J. Hum. Genet. 10: 196-200, 1958.
|
|
|
|
|
|
[PubMed: 13533396]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petersen, M. B., Wang, Q., Willems, P. J.
|
|
<strong>Sex-linked deafness.</strong>
|
|
Clin. Genet. 73: 14-23, 2008.
|
|
|
|
|
|
[PubMed: 18005182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00913.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reardon, W., Middleton-Price, H. R., Sandkuijl, L., Phelps, P., Bellman, S., Luxon, L., Pembrey, M. E., Malcolm, S.
|
|
<strong>A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.</strong>
|
|
Genomics 11: 885-894, 1991.
|
|
|
|
|
|
[PubMed: 1783396]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90011-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reardon, W.
|
|
<strong>Sex linked deafness: Wilde revisited.</strong>
|
|
J. Med. Genet. 27: 376-379, 1990.
|
|
|
|
|
|
[PubMed: 2359100]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.27.6.376]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richards, B. W.
|
|
<strong>Sex-linked deaf-mutism.</strong>
|
|
Ann. Hum. Genet. 26: 195-199, 1963.
|
|
|
|
|
|
[PubMed: 13982090]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1963.tb01975.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S., Benzoni, E., De Cristofaro, R., Yu, C., Cesarani, A., Liu, X., Li, W., Primignani, P., Ambrosetti, U., Xu, X., Duga, S., Solda, G.
|
|
<strong>The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.</strong>
|
|
Europ. J. Hum. Genet. 23: 766-773, 2015.
|
|
|
|
|
|
[PubMed: 25182139]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2014.168]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sataloff, J., Pastore, P. N., Bloom, E.
|
|
<strong>Sex-linked hereditary deafness.</strong>
|
|
Am. J. Hum. Genet. 7: 201-203, 1955.
|
|
|
|
|
|
[PubMed: 14388008]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Synofzik, M., Muller vom Hagen, J., Haack, T. B., Wilhelm, C., Lindig, T., Beck-Wodl, S., Nabuurs, S. B., van Kuilenburg, A. B. P., de Brouwer, A. P. M., Schols, L.
|
|
<strong>X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.</strong>
|
|
Orphanet J. Rare Dis. 9: 24, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 24528855]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/1750-1172-9-24]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tyson, J., Bellman, S., Newton, V., Simpson, P., Malcolm, S., Pembrey, M. E., Bitner-Glindzicz, M.
|
|
<strong>Mapping of DFN2 to Xq22.</strong>
|
|
Hum. Molec. Genet. 5: 2055-2060, 1996.
|
|
|
|
|
|
[PubMed: 8968763]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.12.2055]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wellesley, D., Goldblatt, J.
|
|
<strong>A new form of X-linked, high-frequency, sensorineural deafness.</strong>
|
|
Clin. Genet. 41: 79-81, 1992.
|
|
|
|
|
|
[PubMed: 1544216]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03637.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Wilde, W. R.
|
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<strong>Practical Observations on Aural Surgery and the Nature and Diagnosis of Diseases of the Ear.</strong>
|
|
London: Churchill (pub.) 1853.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Willems, P. J.
|
|
<strong>Genetic causes of hearing loss.</strong>
|
|
New Eng. J. Med. 342: 1101-1109, 2000.
|
|
|
|
|
|
[PubMed: 10760311]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200004133421506]
|
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