4626 lines
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Entry
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- #274600 - PENDRED SYNDROME; PDS
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- OMIM
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<p>
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<span class="h4">#274600</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/274600"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS274400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</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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<div><a href="https://clinicaltrials.gov/search?cond=PENDRED SYNDROME" 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=558&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/NBK1467/" title="SLC26A4-Related Sensorineural Hearing Loss" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">SLC26A4-Related Sensorineu…</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/pendred-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=274600[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="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
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<div id="mimNewbornScreeningFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Primary-T4-Follow-Up-ACT-Sheet.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Primary-TSH-ACT-Sheet.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/T4-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/TSH-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
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</div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=705" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/19fe6155-45ff-40c5-bf3d-e0cad145062a/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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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-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060744" 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/274600" 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:0060744" 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>
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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>SNOMEDCT:</strong> 70348004<br />
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<strong>ICD10CM:</strong> E07.1<br />
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<strong>ORPHA:</strong> 705<br />
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<strong>DO:</strong> 0060744<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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274600
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</span>
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</span>
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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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PENDRED SYNDROME; PDS
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</h3>
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<br />
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|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DEAFNESS WITH GOITER<br />
|
|
GOITER-DEAFNESS SYNDROME<br />
|
|
THYROID DYSHORMONOGENESIS 2B; TDH2B<br />
|
|
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B<br />
|
|
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/577?start=-3&limit=10&highlight=577">
|
|
7q22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pendred syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/274600"> 274600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SLC26A4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605646"> 605646 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/274600" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS274400" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/274600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/274600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital neurosensory deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700453005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700453005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865866</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008527</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008527</a>]</span><br /> -
|
|
Vestibular function defect (decreased in some, normal in other patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843865</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001751</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001751</a>]</span><br /> -
|
|
Cochlear malformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008554</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008554</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Goiter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3716002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3716002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E04.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E04.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/240.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">240.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000853" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000853</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000853" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000853</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Euthyroid <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/264521008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">264521008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0117002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0117002</a>]</span><br /> -
|
|
Hypothyroid <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40930008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40930008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E03.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/244.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">244.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span><br /> -
|
|
Compensated hypothyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54823002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54823002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008223</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008223</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thyroid hormone organification defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749256</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thyroid carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/448216007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">448216007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3163939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3163939</a>, <a href="https://bioportal.bioontology.org/search?q=C0549473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002890</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002890</a>]</span><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">
|
|
|
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- Caused by mutation in the solute carrier family 26, member 4 gene (SLC26A4, <a href="/entry/605646#0001">605646.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Thyroid dyshormonogenesis
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- <a href="/phenotypicSeries/PS274400">PS274400</a>
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- 7 Entries
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</h5>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/13?start=-3&limit=10&highlight=13"> 2p25.3 </a>
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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/274500"> Thyroid dyshormonogenesis 2A </a>
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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="Autosomal recessive">AR</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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</td>
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<span class="mim-font">
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<a href="/entry/274500"> 274500 </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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<a href="/entry/606765"> TPO </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/606765"> 606765 </a>
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</span>
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</td>
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</tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/955?start=-3&limit=10&highlight=955"> 6q25.1 </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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<a href="/entry/274800"> Thyroid dyshormonogenesis 4 </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="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/274800"> 274800 </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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<a href="/entry/612025"> IYD </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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<a href="/entry/612025"> 612025 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/577?start=-3&limit=10&highlight=577"> 7q22.3 </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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<a href="/entry/274600"> Pendred syndrome </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="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/274600"> 274600 </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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<a href="/entry/605646"> SLC26A4 </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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<a href="/entry/605646"> 605646 </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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<a href="/geneMap/8/566?start=-3&limit=10&highlight=566"> 8q24.22 </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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<a href="/entry/274700"> Thyroid dyshormonogenesis 3 </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="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/274700"> 274700 </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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<a href="/entry/188450"> TG </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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<a href="/entry/188450"> 188450 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/174?start=-3&limit=10&highlight=174"> 15q21.1 </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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<a href="/entry/607200"> Thyroid dyshormonogenesis 6 </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="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607200"> 607200 </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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<a href="/entry/606759"> DUOX2 </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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<a href="/entry/606759"> 606759 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/175?start=-3&limit=10&highlight=175"> 15q21.1 </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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<a href="/entry/274900"> Thyroid dyshormonogenesis 5 </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="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/274900"> 274900 </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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<a href="/entry/612772"> DUOXA2 </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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<a href="/entry/612772"> 612772 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/449?start=-3&limit=10&highlight=449"> 19p13.11 </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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<a href="/entry/274400"> Thyroid dyshormonogenesis 1 </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="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/274400"> 274400 </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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<a href="/entry/601843"> SLC5A5 </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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<a href="/entry/601843"> 601843 </a>
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</span>
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</td>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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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 Pendred syndrome (PDS) is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene (<a href="/entry/605646">605646</a>) on chromosome 7q.</p><p>There is evidence that Pendred syndrome may also rarely be caused by digenic inheritance of a heterozygous mutation in the SLC26A4 gene and a heterozygous mutation in the FOXI1 gene (<a href="/entry/601093">601093</a>).</p><p>Mutation in the SLC26A4 gene can also cause autosomal recessive deafness-4 (DFNB4; <a href="/entry/600791">600791</a>) with enlarged vestibular aqueduct (EVA).</p>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<p>Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (<a href="#12" class="mim-tip-reference" title="Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. <strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong> Nature Genet. 17: 411-422, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398842</a>] [<a href="https://doi.org/10.1038/ng1297-411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398842">Everett et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398842" 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>For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (<a href="/entry/274400">274400</a>).</p>
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<div>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>A mild type of organification defect is associated with congenital deafness. Patients show only partial discharge of iodide (25 to 50%) when thiocyanate or perchlorate is given (<a href="#13" class="mim-tip-reference" title="Fraser, G. R., Morgans, M. E., Trotter, W. R. <strong>The syndrome of sporadic goiter and congenital deafness.</strong> Quart. J. Med. 29: 279-295, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13824627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13824627</a>]" pmid="13824627">Fraser et al., 1960</a>). Their thyroids are moderately enlarged from childhood. Patients are usually euthyroid, although an exaggerated response to thyrotropin-releasing hormone (TRH; <a href="/entry/613879">613879</a>) suggests a compensated hypothyroidism (<a href="#20" class="mim-tip-reference" title="Gomez-Pan, A., Evered, D. C., Hall, R. <strong>Pituitary-thyroid function in Pendred syndrome.</strong> Brit. Med. J. 2: 152-153, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4132986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4132986</a>] [<a href="https://doi.org/10.1136/bmj.2.5911.152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4132986">Gomez-Pan et al., 1974</a>); mental retardation has been reported (<a href="#44" class="mim-tip-reference" title="Thompson, J., Maguire, W. C., Hurwitz, L. J. <strong>A family with deafness, goiter, epilepsy and low intelligence segregating independently.</strong> Irish J. Med. Sci. 3: 427-431, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5517050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5517050</a>] [<a href="https://doi.org/10.1007/BF02962164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5517050">Thompson et al., 1970</a>). <a href="#27" class="mim-tip-reference" title="Massa, G., Jaenen, N., de Varebeke, S. J., Peeters, N., Wuyts, W. <strong>Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.</strong> Europ. J. Pediat. 162: 674-677, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12920581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12920581</a>] [<a href="https://doi.org/10.1007/s00431-003-1281-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12920581">Massa et al. (2003)</a> found that a solitary thyroid nodule may be the presenting feature. Thyroid carcinoma has been observed (<a href="#43" class="mim-tip-reference" title="Thieme, E. T. <strong>A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family.</strong> Ann. Surg. 146: 941-948, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13488373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13488373</a>] [<a href="https://doi.org/10.1097/00000658-195712000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13488373">Thieme, 1957</a>; <a href="#10" class="mim-tip-reference" title="Elman, D. S. <strong>Familial association of nerve deafness with nodular goiter and thyroid carcinoma.</strong> New Eng. J. Med. 259: 219-223, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13566453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13566453</a>] [<a href="https://doi.org/10.1056/NEJM195807312590505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13566453">Elman, 1958</a>; <a href="#30" class="mim-tip-reference" title="Milutinovic, P. S., Stanbury, J. B., Wicken, J. V. <strong>Thyroid function in a family with the Pendred syndrome.</strong> J. Clin. Endocr. 29: 962-969, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4307394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4307394</a>] [<a href="https://doi.org/10.1210/jcem-29-7-962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4307394">Milutinovic et al., 1969</a>); because of the characteristically 'wild' histology, malignancy may be incorrectly diagnosed. The deafness is neurosensory in type and sometimes associated with defective vestibular function. The deafness may be present at birth or develop in early childhood. <a href="#2" class="mim-tip-reference" title="Batsakis, J. G., Nishiyama, R. H. <strong>Deafness with sporadic goiter: Pendred's syndrome.</strong> Arch. Otolaryng. 76: 401-406, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13966825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13966825</a>] [<a href="https://doi.org/10.1001/archotol.1962.00740050413004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13966825">Batsakis and Nishiyama (1962)</a> estimated that Pendred syndrome accounts for 1 to 10% of hereditary deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13566453+13824627+4307394+12920581+13966825+4132986+5517050+13488373" 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="Illum, P., Kiaer, H. W., Hvidberg-Hansen, J., Sondergaard, G. <strong>Fifteen cases of Pendred's syndrome.</strong> Arch. Otolaryng. 96: 297-304, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4343141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4343141</a>] [<a href="https://doi.org/10.1001/archotol.1972.00770090473001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4343141">Illum et al. (1972)</a> reported 15 cases. They showed a pedigree in which 8 proven cases and several presumed cases occurred in 3 generations of a family in a pseudodominant pattern (same family as that of <a href="#23" class="mim-tip-reference" title="Johnsen, S. <strong>Familial deafness and goiter in persons with a low level of protein-bound iodine.</strong> Acta Otolaryng. Suppl. 140: 168-177, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13605752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13605752</a>] [<a href="https://doi.org/10.3109/00016485809124412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13605752">Johnsen, 1958</a>). In 1 patient, histologic examination showed a Mondini type malformation of the cochlea (i.e., only the basal cochlear turn was retained while the apical turns formed a common cavity). In 6 and perhaps 7 of the other 14 cases, the same defect was demonstrated by tomography of the temporal bones in the axial-pyramidal projection. The authors suggested that peroxidase deficiency may be responsible for the cochlear lesion as well as the thyroid defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13605752+4343141" 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>Peroxidase activity is normal in Pendred syndrome (<a href="#3" class="mim-tip-reference" title="Burrow, G. N., Spaulding, S. W., Alexander, N. M., Bower, B. F. <strong>Normal peroxidase activity in Pendred's syndrome.</strong> J. Clin. Endocr. 36: 522-530, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4346605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4346605</a>] [<a href="https://doi.org/10.1210/jcem-36-3-522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4346605">Burrow et al., 1973</a>; <a href="#25" class="mim-tip-reference" title="Ljunggren, J. G., Lindstrom, H., Ajern, B. <strong>The concentration of peroxidase in normal and adenomatous human thyroid tissue with special reference to patients with Pendred syndrome.</strong> Acta Endocr. 72: 272-278, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4739179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4739179</a>] [<a href="https://doi.org/10.1530/acta.0.0720272" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4739179">Ljunggren et al., 1973</a>; <a href="#5" class="mim-tip-reference" title="Cave, W. T., Jr., Dunn, J. T. <strong>Studies on the thyroidal defect in an atypical form of Pendred's syndrome.</strong> J. Clin. Endocr. Metab. 41: 590-599, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1159063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1159063</a>] [<a href="https://doi.org/10.1210/jcem-41-3-590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1159063">Cave and Dunn, 1975</a>). There appear to be different varieties of Pendred syndrome, because <a href="#21" class="mim-tip-reference" title="Hollander, C. S., Prout, T. E., Rienhoff, M., Ruben, R. J., Asper, S. P., Jr. <strong>Congenital deafness and goiter: studies of a patient with a cochlear defect and inadequate formation of iodothyronines.</strong> Am. J. Med. 37: 630-637, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14215850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14215850</a>] [<a href="https://doi.org/10.1016/0002-9343(64)90075-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14215850">Hollander et al. (1964)</a> found a defect involving, apparently, an abnormal condensation of iodotyrosines to form iodothyronines, rather than an inadequate iodination of tyrosine. <a href="#30" class="mim-tip-reference" title="Milutinovic, P. S., Stanbury, J. B., Wicken, J. V. <strong>Thyroid function in a family with the Pendred syndrome.</strong> J. Clin. Endocr. 29: 962-969, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4307394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4307394</a>] [<a href="https://doi.org/10.1210/jcem-29-7-962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4307394">Milutinovic et al. (1969)</a> found about 80% of the protein-bound radioiodine in the normal 19S human thyroglobulin fraction from a Pendred gland. On the other hand, <a href="#29" class="mim-tip-reference" title="Medeiros-Neto, G. A., Nicolau, W., Kieffer, J., Ulhoa Cintra, A. B. <strong>Thyroidal iodoproteins in Pendred's syndrome.</strong> J. Clin. Endocr. 28: 1205-1213, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4970955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4970955</a>] [<a href="https://doi.org/10.1210/jcem-28-8-1205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4970955">Medeiros-Neto et al. (1968)</a> found less than 15% in the 19S fraction. <a href="#9" class="mim-tip-reference" title="Desai, K. B., Mehta, M. N., Patel, M. C., Ramanna, L., Ganatra, R. D. <strong>Thyroidal iodoproteins in Pendred syndrome.</strong> J. Endocr. 63: 409-410, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4443702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4443702</a>] [<a href="https://doi.org/10.1677/joe.0.0630409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4443702">Desai et al. (1974)</a> found a 15.2-16.8S radioiodinated thyroidal protein with immunologic properties of normal thyroglobulin. <a href="#15" class="mim-tip-reference" title="Fraser, G. R. <strong>Personal Communication.</strong> Adelaide, Australia 1967."None>Fraser (1967)</a> raised the question of whether the organification defect without deafness, as described by <a href="#41" class="mim-tip-reference" title="Stanbury, J. B., Hedge, A. N. <strong>A study of a family of goitrous cretins.</strong> J. Clin. Endocr. 10: 1471-1484, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14794763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14794763</a>] [<a href="https://doi.org/10.1210/jcem-10-11-1471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14794763">Stanbury and Hedge (1950)</a> and later by <a href="#17" class="mim-tip-reference" title="Furth, E. D., Carvalho, M., Vianna, B. <strong>Familial goiter due to an organification defect in euthyroid siblings.</strong> J. Clin. Endocr. 27: 1137-1140, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4166581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4166581</a>] [<a href="https://doi.org/10.1210/jcem-27-8-1137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4166581">Furth et al. (1967)</a>, was different from the organification defect with deafness as described by Pendred. He proposed that variability in severity of the same defect may be involved and supported this contention with a description of a patient with unilateral deafness whose sister had Pendred syndrome and bilateral deafness. Also, cases of the full syndrome and cases with near-normal hearing occurred in the same family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4166581+4739179+14215850+4443702+4346605+4307394+1159063+14794763+4970955" 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="#8" class="mim-tip-reference" title="Cremers, C. W. R. J., Bolder, C., Admiraal, R. J. C., Everett, L. A., Joosten, F. B. M., van Hauwe, P., Green, E. D., Otten, B. J. <strong>Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.</strong> Arch. Otolaryng. Head Neck Surg. 124: 501-505, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9604973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9604973</a>] [<a href="https://doi.org/10.1001/archotol.124.5.501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9604973">Cremers et al. (1998)</a> described a boy whose bilateral sensorineural hearing loss progressed rapidly from about 50 to 60 decibels at the age of 3 years and 3 months to more than 100 decibels at the age of 4 years and 4 months. A search for the cause of the progressive hearing loss led to discovery of dysplasia of the cochlea and a widened vestibular aqueduct. Thyroid function tests were normal, but thyroglobulin (TG; <a href="/entry/188450">188450</a>) was elevated. The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of the iodine in the thyroid gland. A widened vestibular aqueduct occurs also in branchiootorenal dysplasia (<a href="/entry/113650">113650</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9604973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Phelps, P. D., Coffey, R. A., Trembath, R. C., Luxon, L. M., Grossman, A. B., Britton, K. E., Kendall-Taylor, P., Graham, J. M., Cadge, B. C., Stephens, S. G. D., Pembrey, M. E., Reardon, W. <strong>Radiological malformations of the ear in Pendred syndrome.</strong> Clin. Radiol. 53: 268-273, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585042</a>] [<a href="https://doi.org/10.1016/s0009-9260(98)80125-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585042">Phelps et al. (1998)</a> presented data on the radiologic malformations of the ear in 40 patients, all complying with strict diagnostic criteria for Pendred syndrome. Deficiency of the interscalar septum in the distal coils of the cochlea (Mondini deformity) was found to be common but probably not a constant feature of Pendred syndrome. On the other hand, enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct was present in all 20 patients examined by MRI. <a href="#33" class="mim-tip-reference" title="Phelps, P. D., Coffey, R. A., Trembath, R. C., Luxon, L. M., Grossman, A. B., Britton, K. E., Kendall-Taylor, P., Graham, J. M., Cadge, B. C., Stephens, S. G. D., Pembrey, M. E., Reardon, W. <strong>Radiological malformations of the ear in Pendred syndrome.</strong> Clin. Radiol. 53: 268-273, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585042</a>] [<a href="https://doi.org/10.1016/s0009-9260(98)80125-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585042">Phelps et al. (1998)</a> concluded that thin section high resolution MRI on a T2 protocol in the axial and sagittal planes is the imaging investigation of choice in this disorder. They concluded that 'if there is uncertainty about cochlear malformation being a constant feature of Pendred syndrome, there can be little doubt as to the importance of enlarged vestibular aqueduct, endolymphatic sac, and endolymphatic duct, which were almost constant features' in their series. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585042" 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>Neither Pendred syndrome patients nor pendrin (<a href="/entry/605646">605646</a>)-deficient knockout mice had been reported to develop overt acid-base disturbances, such as metabolic alkalosis. <a href="#39" class="mim-tip-reference" title="Royaux, I. E., Wall, S. M., Karniski, L. P., Everett, L. A., Suzuki, K., Knepper, M. A., Green, E. D. <strong>Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.</strong> Proc. Nat. Acad. Sci. 98: 4221-4226, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11274445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11274445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11274445[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.071516798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11274445">Royaux et al. (2001)</a> demonstrated that pendrin is an apical anion transporter in intercalated cells of the cortical collecting ducts of the kidney and has an essential role in renal bicarbonate secretion. The fact that patients have not shown abnormalities with reference to the kidney probably reflects the fact that the kidney has other means of regulating bicarbonate excretion. Overt abnormalities in acid-base balance in pendrin-deficient humans may be induced under conditions of extensive alkali loading or severe metabolic alkalosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11274445" 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="#28" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 6/4/1986."None>McKusick (1986)</a> noted a possible relationship between progression of deafness and the occurrence of trauma. Lesions in the organ of Corti have been produced in the chick and rat by administration of propylthiouracil during embryogenesis. The lesion did not occur when thyroxine was given with the antithyroid drug (<a href="#1" class="mim-tip-reference" title="Bargman, G. J., Gardner, L. I. <strong>Otic lesions and congenital hypothyroidism in the developing chick.</strong> J. Clin. Invest. 46: 1828-1839, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6070327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6070327</a>] [<a href="https://doi.org/10.1172/JCI105673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6070327">Bargman and Gardner, 1967</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6070327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Sheffield, V. C., Kraiem, Z., Beck, J. C., Nishimura, D., Stone, E. M., Salameh, M., Sadeh, O., Glaser, B. <strong>Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.</strong> Nature Genet. 12: 424-426, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630498</a>] [<a href="https://doi.org/10.1038/ng0496-424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630498">Sheffield et al. (1996)</a> stated that very few in vitro studies of thyroid tissue from Pendred patients had previously been reported, and no biochemical abnormality had been found consistently. Therefore, the possibility of a circulating inhibitor of organification had not been previously excluded. By measuring the major steps of thyroid hormonogenesis simultaneously in cryopreserved cultured cells from Pendred patients, <a href="#40" class="mim-tip-reference" title="Sheffield, V. C., Kraiem, Z., Beck, J. C., Nishimura, D., Stone, E. M., Salameh, M., Sadeh, O., Glaser, B. <strong>Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.</strong> Nature Genet. 12: 424-426, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630498</a>] [<a href="https://doi.org/10.1038/ng0496-424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630498">Sheffield et al. (1996)</a> conclusively showed the presence of a post-cAMP and post-iodine-uptake defect. Furthermore, they found that the magnitude of the organification defects was similar to the decrease in T3 secretion, suggesting that in Pendred syndrome patients iodide organification may be the rate-limiting step in thyroid hormone secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Taylor, J. P., Metcalfe, R. A., Watson, P. F., Weetman, A. P., Trembath, R. C. <strong>Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.</strong> J. Clin. Endocr. Metab. 87: 1778-1784, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11932316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11932316</a>] [<a href="https://doi.org/10.1210/jcem.87.4.8435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11932316">Taylor et al. (2002)</a> investigated the effect of 9 SLC26A4 missense mutations on pendrin localization and iodide transport. Transient expression of green fluorescent protein-tagged pendrin mutant constructs in mammalian cell lines demonstrated appropriate trafficking to the plasma membrane for only 2 mutants. The remaining SLC26A4 mutants appeared to be retained within the endoplasmic reticulum following transfection. Iodide efflux assays were performed. The results indicated loss of pendrin iodide transport for all mislocalizing mutations. However, SLC26A4 mutants are associated with variable thyroid dysfunction in affected subjects. The authors concluded that additional genetic and/or environmental factors influence the thyroid activity in Pendred syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11932316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The perchlorate discharge test, the gold-standard investigation for Pendred syndrome, is nonspecific, and in the absence of alternative means of confirming the diagnosis, its sensitivity is unknown. <a href="#37" class="mim-tip-reference" title="Reardon, W., Coffey, R., Phelps, P. D., Luxon, L. M., Stephens, D., Kendall-Taylor, P., Britton, K. E., Grossman, A., Trembath, R. <strong>Pendred syndrome--100 years of underascertainment?</strong> Quart. J. Med. 90: 443-447, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302427</a>] [<a href="https://doi.org/10.1093/qjmed/90.7.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302427">Reardon et al. (1997)</a> used the mapping of the Pendred syndrome gene to 7q to identify pedigrees, and assessed the prevalence of clinical parameters of disease in affected individuals. Cosegregation between disease and the locus on 7q was found in 36 familial cases. Clinical and investigative findings were compared in 18 index cases versus 18 affected sibs. The overall prevalence of goiter was 73%, higher in index cases (94%) than in sibs (56%), many of whom had not previously been considered to have the condition. One perchlorate discharge test was false-negative (2.9%). Radiologic malformations of the cochlea were identified in 86% of cases. <a href="#37" class="mim-tip-reference" title="Reardon, W., Coffey, R., Phelps, P. D., Luxon, L. M., Stephens, D., Kendall-Taylor, P., Britton, K. E., Grossman, A., Trembath, R. <strong>Pendred syndrome--100 years of underascertainment?</strong> Quart. J. Med. 90: 443-447, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302427</a>] [<a href="https://doi.org/10.1093/qjmed/90.7.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302427">Reardon et al. (1997)</a> concluded that securing a diagnosis of Pendred syndrome may be difficult, especially in the single case. They noted that the perchlorate discharge test, although valuable, is difficult to undertake in the younger patient, and radiology may assist in diagnosing such patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302427" 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="#36" class="mim-tip-reference" title="Reardon, W., Coffey, R., Chowdhury, T., Grossman, A., Jan, H., Britton, K., Kendall-Taylor, P., Trembath, R. <strong>Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.</strong> J. Med. Genet. 36: 595-598, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465108</a>]" pmid="10465108">Reardon et al. (1999)</a> performed perchlorate discharge tests in 57 individuals with Pendred syndrome. In 52 (21 males and 31 females, age range 9 to 54 years) a discharge of greater than 10% of radioiodide was observed (less than 10% is regarded as normal in control subjects). Goiter was present in 43 (83%) of the cohort and generally developed after the age of 10 years. Fifty-six percent remained euthyroid, and 19 (44%) had objective evidence of hypothyroidism. <a href="#36" class="mim-tip-reference" title="Reardon, W., Coffey, R., Chowdhury, T., Grossman, A., Jan, H., Britton, K., Kendall-Taylor, P., Trembath, R. <strong>Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.</strong> J. Med. Genet. 36: 595-598, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465108</a>]" pmid="10465108">Reardon et al. (1999)</a> concluded that thyroid dysfunction in Pendred syndrome is variable, and that inclusion of goiter as a diagnostic requirement will lead to underascertainment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465108" 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="#38" class="mim-tip-reference" title="Reardon, W., O'Mahoney, C. F., Trembath, R., Jan, H., Phelps, P. D. <strong>Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.</strong> Quart. J. Med. 93: 99-104, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700480</a>] [<a href="https://doi.org/10.1093/qjmed/93.2.99" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700480">Reardon et al. (2000)</a> stated that enlargement of the vestibular aqueduct, a radiologic marker, should be considered as the most likely presentation of Pendred syndrome. They found that 49 of 57 cases of deafness with enlarged vestibular aqueducts had signs of Pendred syndrome. They suggested that Pendred syndrome might be recharacterized as deafness with enlargement of the vestibular aqueduct that is sometimes associated with goiter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Masmoudi, S., Charfedine, I., Hmani, M., Grati, M., Ghorbel, A. M., Elgaied-Boulila, A., Drira, M., Hardelin, J.-P., Ayadi, M. <strong>Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.</strong> Am. J. Med. Genet. 90: 38-44, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602116</a>]" pmid="10602116">Masmoudi et al. (2000)</a> found that of 23 members of a family with Pendred syndrome, all who underwent CT scan of the inner ear had a widened vestibular aqueduct. However, only 11 of the patients had goiter; 8 of these patients who were tested had a normal result on perchlorate discharge test. This finding called into question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome. <a href="#26" class="mim-tip-reference" title="Masmoudi, S., Charfedine, I., Hmani, M., Grati, M., Ghorbel, A. M., Elgaied-Boulila, A., Drira, M., Hardelin, J.-P., Ayadi, M. <strong>Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.</strong> Am. J. Med. Genet. 90: 38-44, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602116</a>]" pmid="10602116">Masmoudi et al. (2000)</a> suggested the use of molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphologic anomaly even in the absence of thyroid goiter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602116" 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="#14" class="mim-tip-reference" title="Fraser, G. R. <strong>Association of congenital deafness with goiter (Pendred's syndrome): a study of 207 families.</strong> Ann. Hum. Genet. 28: 201-249, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14304636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14304636</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1964.tb00479.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14304636">Fraser (1965)</a> estimated the frequency in the British Isles to be about 0.000075. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14304636" 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="#34" class="mim-tip-reference" title="Pourova, R., Janousek, P., Jurovcik, M., Dvorakova, M., Malikova, M., Raskova, D., Bendova, O., Leonardi, E., Murgia, A., Kabelka, Z., Astl, J., Seeman, P. <strong>Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).</strong> Ann. Hum. Genet. 74: 299-307, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20597900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20597900</a>] [<a href="https://doi.org/10.1111/j.1469-1809.2010.00581.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20597900">Pourova et al. (2010)</a> screened the SLC26A4 gene in 303 Czech patients with early-onset hearing loss. The patients were divided into 3 groups: 22 with EVA and/or Mondini malformation on imaging, 220 patients without imaging available, and 61 patients with EVA/Mondini-negative imaging studies. Biallelic SLC26A4 mutations were found in 6 (27.3%) patients in the first group, 2 (0.9%) patients in the second group, and none (0%) in the third group; 4 of the 8 patients with biallelic mutations had goiter, consistent with Pendred syndrome. Monoallelic SLC26A4 mutations were found in 3 (13.6%) patients in the first group, 12 (5.5%) patients in the second group, and 3 (4.9%) patients in the third group. The most frequent mutations were V138F (<a href="/entry/605646#0024">605646.0024</a>) and L445W (<a href="/entry/605646#0018">605646.0018</a>), in 18% and 8.9% alleles, respectively. Among 13 patients with bilateral EVA, 6 (46%) carried biallelic mutations. No biallelic mutations were found in EVA-negative patients, but 4.9% had monoallelic mutations. Overall, biallelic mutations were found in only 2.7% of all patients, but were more common in familial cases. The findings also suggested that a single SLC25A4 mutation may contribute to the phenotype, perhaps in concert with mutations in other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20597900" 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="#46" class="mim-tip-reference" title="van Wouwe, J. P., Wijnands, M. C., Mourad-Baars, P. E. C., Geraedts, J. P. M., Beverstock, G. C., van de Kamp, J. J. P. <strong>A patient with dup(10p)del(8q) and Pendred syndrome.</strong> Am. J. Med. Genet. 24: 211-217, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717206</a>] [<a href="https://doi.org/10.1002/ajmg.1320240202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3717206">Van Wouwe et al. (1986)</a> found Pendred syndrome in a severely retarded girl with duplication-deficiency: duplication in 10p and deficiency in distal 8q. The father carried a de novo balanced translocation between 8q and 10p: t(8;10)(q24;p11). The authors raised the possibility that Pendred syndrome maps to 8q24-qter. It should be noted that the structural gene for thyroglobulin is in this segment. Although the proposita had deafness and hypothyroidism consistent with Pendred syndrome, as well as a marked reduction of (123)I uptake on perchlorate test, is it possible she has a thyroglobulin synthesis defect such as that discussed in <a href="/entry/274900">274900</a> and that the deafness has other cause? <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3717206" 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 studies, <a href="#18" class="mim-tip-reference" title="Gausden, E., Armour, J. A. L., Coyle, B., Coffey, R., Hochberg, Z., Pembrey, M., Britton, K. E., Grossman, A., Reardon, W., Trembath, R. <strong>Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.</strong> Clin. Endocr. 44: 441-446, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8706311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8706311</a>] [<a href="https://doi.org/10.1046/j.1365-2265.1996.714536.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8706311">Gausden et al. (1996)</a> excluded the thyroid peroxidase gene (<a href="/entry/606765">606765</a>) on chromosome 2 as the site of the mutation in their families with Pendred syndrome. This confirmed that at least 1 further step is required for complete organification of iodide within the thyroid. Observations that when both parents are affected there was no complementation for the disease phenotype suggested homogeneity. <a href="#7" class="mim-tip-reference" title="Coyle, B., Coffey, R., Armour, J. A. L., Gausden, E., Hochberg, Z., Grossman, E., Britton, K., Pembrey, M., Reardon, W., Trembath, R. <strong>Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.</strong> Nature Genet. 12: 421-423, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630497</a>] [<a href="https://doi.org/10.1038/ng0496-421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630497">Coyle et al. (1996)</a> excluded at least 8 autosomal recessive loci for nonsyndromic deafness that had been reported, although up to that time none had been cloned. However, they did find significant linkage to the DFNB4 locus (<a href="/entry/600791">600791</a>) located on 7q31. Twelve families with 2 or more affected individuals with Pendred syndrome were studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8630497+8706311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Sheffield, V. C., Kraiem, Z., Beck, J. C., Nishimura, D., Stone, E. M., Salameh, M., Sadeh, O., Glaser, B. <strong>Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.</strong> Nature Genet. 12: 424-426, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630498</a>] [<a href="https://doi.org/10.1038/ng0496-424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630498">Sheffield et al. (1996)</a> used a DNA-pooling strategy in an inbred kindred with 5 affected sibs and 2 other affected members to perform a genomewide linkage search for the Pendred syndrome disease locus. They mapped the locus to an approximately 9-cM interval on chromosome 7 in the 7q21-q34 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Gausden, E., Coyle, B., Armour, J. A. L., Coffey, R., Grossman, A., Fraser, G. R., Winter, R. M., Pembrey, M. E., Kendall-Taylor, P., Stephens, D., Luxon, L. M., Phelps, P. D., Reardon, W., Trembath, R. <strong>Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.</strong> J. Med. Genet. 34: 126-129, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9039988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9039988</a>] [<a href="https://doi.org/10.1136/jmg.34.2.126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9039988">Gausden et al. (1997)</a>, who concluded that the PDS locus is situated at 7q31 where a form of nonsyndromic deafness, DFNB4, had also been mapped, studied 5 kindreds and narrowed the locus to an interval between D7S501 and D7S525, separated by a genetic distance estimated to be 2.5 cM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9039988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Coucke, P., Van Camp, G., Demirhan, O., Kabakkaya, Y., Balemans, W., Van Hauwe, P., Van Agtmael, T., Smith, R. J. H., Parving, A., Bolder, C. H. H. M., Cremers, C. W. R. J., Willems, P. J. <strong>The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.</strong> Genomics 40: 48-54, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9070918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9070918</a>] [<a href="https://doi.org/10.1006/geno.1996.4541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9070918">Coucke et al. (1997)</a> concluded that the candidate region of approximately 1.7 cM is flanked by markers D7S501 and D7S692. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9070918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of PDS in the families reported by <a href="#12" class="mim-tip-reference" title="Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. <strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong> Nature Genet. 17: 411-422, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398842</a>] [<a href="https://doi.org/10.1038/ng1297-411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398842">Everett et al. (1997)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For a more complete discussion of the molecular genetics of Pendred syndrome, see the entry for the SLC26A4 gene (<a href="/entry/605646">605646</a>).</p><p><a href="#12" class="mim-tip-reference" title="Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. <strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong> Nature Genet. 17: 411-422, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398842</a>] [<a href="https://doi.org/10.1038/ng1297-411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398842">Everett et al. (1997)</a> used a positional cloning strategy to identify the gene (SLC26A4) mutated in Pendred syndrome. In PDS families, <a href="#12" class="mim-tip-reference" title="Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. <strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong> Nature Genet. 17: 411-422, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398842</a>] [<a href="https://doi.org/10.1038/ng1297-411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398842">Everett et al. (1997)</a> found 3 apparently deleterious homozygous mutations, each segregating with the disease in the respective families in which they occurred (e.g., <a href="/entry/605646#0001">605646.0001</a>). <a href="#12" class="mim-tip-reference" title="Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., Sheffield, V. C., Green, E. D. <strong>Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).</strong> Nature Genet. 17: 411-422, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398842</a>] [<a href="https://doi.org/10.1038/ng1297-411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398842">Everett et al. (1997)</a> speculated that Pendred syndrome may be more common than previously thought. They pointed out that another recessive locus for deafness, designated DFNB4 (<a href="/entry/600791">600791</a>), maps to 7q31, the same region as the PDS gene. They considered it likely that individuals reported with DFNB4 actually have Pendred syndrome rather than mutations in another gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the index patient with PDS from a consanguineous kindred from northeastern Brazil, <a href="#24" class="mim-tip-reference" title="Kopp, P., Arseven, O. K., Sabacan, L., Kotlar, T., Dupuis, J., Cavaliere, H., Santos, C. L. S., Jameson, J. L., Medeiros-Neto, G. <strong>Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.</strong> J. Clin. Endocr. Metab. 84: 336-341, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9920104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9920104</a>] [<a href="https://doi.org/10.1210/jcem.84.1.5398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9920104">Kopp et al. (1999)</a> found homozygosity for a 279delT mutation (<a href="/entry/605646#0016">605646.0016</a>) in exon 3 of the PDS gene. The index patient showed the classic triad of deafness, positive perchlorate test, and goiter. Two other patients with deafness were homozygous for this mutation; 19 were heterozygous and 14 were homozygous for the wildtype allele. Surprisingly, 6 deaf individuals in this kindred were not homozygous for the 279delT mutation; 3 were heterozygous and 3 were homozygous for the wildtype allele, suggesting a probable distinct genetic cause for their deafness. The authors concluded from comparison of phenotypes and genotypes that phenocopies generated by distinct environmental and/or genetic causes were present in this kindred and that the diagnosis of PDS may be difficult without molecular analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9920104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The identification of the disease gene for Pendred syndrome prompted the need to reevaluate the syndrome to identify possible clues for the diagnosis. To this purpose, <a href="#16" class="mim-tip-reference" title="Fugazzola, L., Mannavola, D., Cerutti, N., Maghnie, M., Pagella, F., Bianchi, P., Weber, G., Persani, L., Beck-Peccoz, P. <strong>Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.</strong> J. Clin. Endocr. Metab. 85: 2469-2475, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10902795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10902795</a>] [<a href="https://doi.org/10.1210/jcem.85.7.6694" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10902795">Fugazzola et al. (2000)</a> conducted a molecular analysis and full clinical, biochemical, and radiologic examination in 3 Italian families presenting with clinical features of Pendred syndrome. A correlation between genotype and phenotype was found in 1 patient with enlargement of vestibular aqueduct and endolymphatic duct and sac at magnetic resonance imaging. This subject was a compound heterozygote for a deletion in SLC26A4 exon 10 (1197delT; <a href="/entry/605646#0020">605646.0020</a>) and a novel insertion in exon 19 (2182-2183insG; <a href="/entry/605646#0021">605646.0021</a>). The authors concluded that their study demonstrates the value of the combination of clinical/radiologic and genetic studies in the diagnosis of Pendred syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10902795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The hearing loss that occurs in Pendred syndrome or in isolation as DFNB4 is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct to Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns. <a href="#4" class="mim-tip-reference" title="Campbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., Smith, R. J. H. <strong>Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.</strong> Hum. Mutat. 17: 403-411, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317356</a>] [<a href="https://doi.org/10.1002/humu.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11317356">Campbell et al. (2001)</a> found mutations in 5 of 6 multiplex families with EVA (83%) and in 4 of 5 multiplex families with Mondini dysplasia (80%), implying that mutations in the SLC26A4 gene are the major genetic cause of these temporal abnormalities. In their analyses of Pendred syndrome and DFNB4, they found that the 2 most common mutations, T416P (<a href="/entry/605646#0006">605646.0006</a>) and IVS8+1G-A (<a href="/entry/605646#0007">605646.0007</a>), were present in 22% and 30% of families, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11317356" 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="#31" class="mim-tip-reference" title="Park, S. M., Chatterjee, V. K. K. <strong>Genetics of congenital hypothyroidism.</strong> J. Med. Genet. 42: 379-389, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15863666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15863666</a>] [<a href="https://doi.org/10.1136/jmg.2004.024158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15863666">Park and Chatterjee (2005)</a> reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15863666" 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="#45" class="mim-tip-reference" title="Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S. <strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong> Europ. J. Hum. Genet. 11: 916-922, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508505</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508505">Tsukamoto et al. (2003)</a> screened 10 Japanese families with Pendred syndrome, 32 Japanese families with bilateral sensorineural hearing loss associated with enlarged vestibular aqueduct (EVA), and 96 unrelated Japanese controls for mutations in the SLC26A4 gene. They identified causative mutations in 90% of the typical Pendred syndrome families and in 78.1% of those with sensorineural hearing loss with EVA. None of their patients had the Mondini malformation. <a href="#45" class="mim-tip-reference" title="Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S. <strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong> Europ. J. Hum. Genet. 11: 916-922, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508505</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508505">Tsukamoto et al. (2003)</a> noted that the same combination of mutations resulted in variable phenotypic expression, suggesting that these 2 conditions are part of a continuous spectrum of disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14508505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J. <strong>SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (Letter)</strong> J. Med. Genet. 42: 159-165, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689455</a>] [<a href="https://doi.org/10.1136/jmg.2004.024208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689455">Pryor et al. (2005)</a> evaluated the clinical phenotype and SLC26A4 genotype of 39 patients with EVA from 31 families, definitively classifying 29 individuals. All 11 PDS patients had 2 mutant SLC26A4 alleles, whereas all 18 nonsyndromic EVA patients had either 1 or no SLC26A4 mutant alleles. <a href="#35" class="mim-tip-reference" title="Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J. <strong>SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (Letter)</strong> J. Med. Genet. 42: 159-165, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15689455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15689455</a>] [<a href="https://doi.org/10.1136/jmg.2004.024208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15689455">Pryor et al. (2005)</a> concluded that PDS and nonsyndromic EVA are distinct clinical and genetic entities, with PDS being a genetically homogeneous disorder caused by biallelic SLC26A4 mutations, and at least some cases of nonsyndromic EVA being associated with a single SLC26A4 mutation. They noted that the detection of a single mutant SLC26A4 allele is incompletely diagnostic without additional clinical evaluation to differentiate PDS from nonsyndromic EVA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15689455" 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>Recessive mutations in the anion transporter gene SLC26A4 are responsible for Pendred syndrome and for nonsyndromic hearing loss associated with EVA. However, a large percentage of patients with these phenotypes lack mutations in the SLC26A4 coding region in one or both alleles. <a href="#47" class="mim-tip-reference" title="Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H. <strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong> Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503324">Yang et al. (2007)</a> identified and characterized a key transcriptional regulatory element in the SLC26A4 promoter that binds FOXI1 (<a href="/entry/601093">601093</a>), which is a transcriptional activator of SLC26A4. They found 9 patients with Pendred syndrome or nonsyndromic EVA who were heterozygous for a novel -103T-C mutation (<a href="/entry/605646#0027">605646.0027</a>) in this regulatory element, which interfered with FOXI1 binding and completely abolished FOXI1-mediated transcriptional activation. They also identified 2 Pendred and 4 EVA patients with heterozygous mutations in FOXI1 that compromised its ability to activate SLC26A4 transcription; 1 of the latter EVA patients was a double heterozygote who also carried a heterozygous mutation in the SLC26A4 gene (see <a href="/entry/605646#0028">605646.0028</a> and <a href="/entry/601093#0001">601093.0001</a>). This finding was consistent with their observation that EVA occurs in the mouse mutant doubly heterozygous for mutations in these 2 genes, and the results supported a dosage-dependent model for the molecular pathogenesis of Pendred syndrome and nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery. <a href="#47" class="mim-tip-reference" title="Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H. <strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong> Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17503324">Yang et al. (2007)</a> stated the this was the first example of digenic inheritance to be verified as a cause of human deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17503324" 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="#11" class="mim-tip-reference" title="Everett, L. A., Belyantseva, I. A., Noben-Trauth, K., Cantos, R., Chen, A., Thakkar, S. I., Hoogstraten-Miller, S. L., Kachar, B., Wu, D. K., Green, E. D. <strong>Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.</strong> Hum. Molec. Genet. 10: 153-161, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11152663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11152663</a>] [<a href="https://doi.org/10.1093/hmg/10.2.153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11152663">Everett et al. (2001)</a> generated a Pds knockout mouse. Pds -/- mice are completely deaf and also display signs of vestibular dysfunction. The inner ears appear to develop normally until embryonic day 15, after which time severe endolymphatic dilatation occurs, reminiscent of that seen radiologically in deaf individuals with PDS mutations. Additionally, in the second postnatal week severe degeneration of sensory cells and malformation of otoconia and otoconial membranes occur, as revealed by scanning electron and fluorescence confocal microscopy. No thyroid abnormality was noted in this particular mouse strain (in a 129Sv/Ev background). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11152663" 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>This syndrome was described by Vaughan <a href="#32" class="mim-tip-reference" title="Pendred, V. <strong>Deaf-mutism and goitre.</strong> Lancet 148: 532 only, 1896. Note: Originally Volume II."None>Pendred (1896)</a>. It was exactly a century later that <a href="#7" class="mim-tip-reference" title="Coyle, B., Coffey, R., Armour, J. A. L., Gausden, E., Hochberg, Z., Grossman, E., Britton, K., Pembrey, M., Reardon, W., Trembath, R. <strong>Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.</strong> Nature Genet. 12: 421-423, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630497</a>] [<a href="https://doi.org/10.1038/ng0496-421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630497">Coyle et al. (1996)</a> and <a href="#40" class="mim-tip-reference" title="Sheffield, V. C., Kraiem, Z., Beck, J. C., Nishimura, D., Stone, E. M., Salameh, M., Sadeh, O., Glaser, B. <strong>Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.</strong> Nature Genet. 12: 424-426, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630498</a>] [<a href="https://doi.org/10.1038/ng0496-424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630498">Sheffield et al. (1996)</a> showed that the disorder maps to chromosome 7q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8630497+8630498" 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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Bargman, G. J., Gardner, L. I.
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<strong>Otic lesions and congenital hypothyroidism in the developing chick.</strong>
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J. Clin. Invest. 46: 1828-1839, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6070327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6070327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6070327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI105673" target="_blank">Full Text</a>]
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Batsakis, J. G., Nishiyama, R. H.
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<strong>Deafness with sporadic goiter: Pendred's syndrome.</strong>
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Arch. Otolaryng. 76: 401-406, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13966825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13966825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13966825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archotol.1962.00740050413004" target="_blank">Full Text</a>]
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Burrow, G. N., Spaulding, S. W., Alexander, N. M., Bower, B. F.
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<strong>Normal peroxidase activity in Pendred's syndrome.</strong>
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J. Clin. Endocr. 36: 522-530, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4346605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4346605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4346605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-36-3-522" target="_blank">Full Text</a>]
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Campbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., Smith, R. J. H.
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<strong>Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.</strong>
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Hum. Mutat. 17: 403-411, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11317356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11317356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11317356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.1116" target="_blank">Full Text</a>]
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Cave, W. T., Jr., Dunn, J. T.
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<strong>Studies on the thyroidal defect in an atypical form of Pendred's syndrome.</strong>
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J. Clin. Endocr. Metab. 41: 590-599, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1159063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1159063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1159063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-41-3-590" target="_blank">Full Text</a>]
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Coucke, P., Van Camp, G., Demirhan, O., Kabakkaya, Y., Balemans, W., Van Hauwe, P., Van Agtmael, T., Smith, R. J. H., Parving, A., Bolder, C. H. H. M., Cremers, C. W. R. J., Willems, P. J.
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<strong>The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.</strong>
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Genomics 40: 48-54, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9070918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9070918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9070918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.4541" target="_blank">Full Text</a>]
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Coyle, B., Coffey, R., Armour, J. A. L., Gausden, E., Hochberg, Z., Grossman, E., Britton, K., Pembrey, M., Reardon, W., Trembath, R.
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<strong>Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.</strong>
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Nature Genet. 12: 421-423, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0496-421" target="_blank">Full Text</a>]
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Cremers, C. W. R. J., Bolder, C., Admiraal, R. J. C., Everett, L. A., Joosten, F. B. M., van Hauwe, P., Green, E. D., Otten, B. J.
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<strong>Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.</strong>
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Arch. Otolaryng. Head Neck Surg. 124: 501-505, 1998.
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[<a href="https://doi.org/10.1001/archotol.124.5.501" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.2.153" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.2.126" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.2.5911.152" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archotol.1972.00770090473001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/00016485809124412" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.2010.00581.x" target="_blank">Full Text</a>]
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<a id="Thompson1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thompson, J., Maguire, W. C., Hurwitz, L. J.
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<strong>A family with deafness, goiter, epilepsy and low intelligence segregating independently.</strong>
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Irish J. Med. Sci. 3: 427-431, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5517050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5517050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5517050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF02962164" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="45" class="mim-anchor"></a>
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<a id="Tsukamoto2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S.
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<strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong>
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Europ. J. Hum. Genet. 11: 916-922, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14508505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201073" target="_blank">Full Text</a>]
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<li>
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<a id="46" class="mim-anchor"></a>
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<a id="van Wouwe1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Wouwe, J. P., Wijnands, M. C., Mourad-Baars, P. E. C., Geraedts, J. P. M., Beverstock, G. C., van de Kamp, J. J. P.
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<strong>A patient with dup(10p)del(8q) and Pendred syndrome.</strong>
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Am. J. Med. Genet. 24: 211-217, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3717206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3717206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3717206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320240202" target="_blank">Full Text</a>]
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<li>
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<a id="47" class="mim-anchor"></a>
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<a id="Yang2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H.
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<strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong>
|
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Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17503324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17503324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17503324[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=17503324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/518314" target="_blank">Full Text</a>]
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/12/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 8/9/2007<br>Marla J. F. O'Neill - updated : 2/16/2006<br>Marla J. F. O'Neill - updated : 6/23/2005<br>Marla J. F. O'Neill - updated : 3/1/2005<br>Marla J. F. O'Neill - updated : 6/2/2004<br>Natalie E. Krasikov - updated : 3/12/2004<br>John A. Phillips, III - updated : 10/10/2002<br>Victor A. McKusick - updated : 8/6/2001<br>Victor A. McKusick - updated : 4/17/2001<br>George E. Tiller - updated : 3/13/2001<br>John A. Phillips, III - updated : 2/20/2001<br>John A. Phillips, III - updated : 2/12/2001<br>John A. Phillips, III - updated : 2/9/2001<br>Victor A. McKusick - updated : 11/29/2000<br>Victor A. McKusick - updated : 11/1/2000<br>George E. Tiller - updated : 9/19/2000<br>John A. Phillips, III - updated : 6/6/2000<br>Victor A. McKusick - updated : 12/21/1999<br>John A. Phillips, III - updated : 11/18/1999<br>Michael J. Wright - updated : 10/26/1999<br>Victor A. McKusick - updated : 9/20/1999<br>Ada Hamosh - updated : 3/31/1999<br>Ada Hamosh - updated : 3/19/1999<br>Victor A. McKusick - updated : 11/16/1998<br>Victor A. McKusick - updated : 10/15/1998<br>Victor A. McKusick - updated : 8/24/1998<br>Victor A. McKusick - updated : 7/8/1998<br>Victor A. McKusick - updated : 2/24/1998<br>Victor A. McKusick - updated : 12/2/1997<br>Victor A. McKusick - updated : 3/25/1997<br>Victor A. McKusick - updated : 3/6/1997<br>Moyra Smith - updated : 12/20/1996
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/05/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/04/2024<br>carol : 03/14/2023<br>alopez : 03/13/2023<br>carol : 05/23/2022<br>carol : 05/20/2022<br>carol : 03/22/2022<br>carol : 02/12/2016<br>terry : 12/21/2012<br>carol : 7/6/2012<br>ckniffin : 6/13/2012<br>ckniffin : 6/12/2012<br>carol : 4/20/2011<br>joanna : 8/12/2009<br>alopez : 8/5/2009<br>alopez : 8/5/2009<br>terry : 3/25/2009<br>alopez : 8/9/2007<br>carol : 2/16/2006<br>carol : 2/16/2006<br>wwang : 6/23/2005<br>wwang : 3/11/2005<br>terry : 3/1/2005<br>carol : 6/8/2004<br>terry : 6/2/2004<br>carol : 3/16/2004<br>terry : 3/12/2004<br>carol : 2/27/2003<br>alopez : 10/10/2002<br>carol : 8/6/2001<br>alopez : 4/19/2001<br>terry : 4/17/2001<br>cwells : 3/27/2001<br>cwells : 3/13/2001<br>cwells : 3/12/2001<br>alopez : 2/21/2001<br>alopez : 2/20/2001<br>alopez : 2/20/2001<br>alopez : 2/20/2001<br>terry : 2/12/2001<br>terry : 2/9/2001<br>carol : 1/16/2001<br>mcapotos : 12/18/2000<br>mcapotos : 12/14/2000<br>terry : 11/29/2000<br>terry : 11/1/2000<br>alopez : 9/19/2000<br>joanna : 9/7/2000<br>carol : 6/21/2000<br>alopez : 6/6/2000<br>mcapotos : 5/5/2000<br>mcapotos : 1/10/2000<br>mcapotos : 1/6/2000<br>mcapotos : 1/3/2000<br>mcapotos : 1/3/2000<br>terry : 12/21/1999<br>alopez : 11/18/1999<br>alopez : 11/18/1999<br>alopez : 10/26/1999<br>jlewis : 9/29/1999<br>terry : 9/20/1999<br>carol : 4/15/1999<br>carol : 4/15/1999<br>alopez : 3/31/1999<br>alopez : 3/31/1999<br>alopez : 3/19/1999<br>alopez : 3/19/1999<br>carol : 11/19/1998<br>terry : 11/16/1998<br>carol : 10/19/1998<br>terry : 10/15/1998<br>carol : 8/25/1998<br>terry : 8/24/1998<br>carol : 8/24/1998<br>terry : 7/8/1998<br>alopez : 2/27/1998<br>terry : 2/24/1998<br>terry : 12/11/1997<br>jenny : 12/2/1997<br>terry : 11/26/1997<br>terry : 11/26/1997<br>terry : 11/25/1997<br>alopez : 6/11/1997<br>jenny : 3/25/1997<br>terry : 3/14/1997<br>mark : 3/6/1997<br>terry : 3/5/1997<br>mark : 12/20/1996<br>terry : 11/12/1996<br>terry : 5/13/1996<br>terry : 5/13/1996<br>terry : 5/13/1996<br>mark : 4/9/1996<br>terry : 4/5/1996<br>pfoster : 7/19/1994<br>jason : 7/18/1994<br>mimadm : 6/8/1994<br>carol : 4/8/1994<br>carol : 11/20/1992<br>supermim : 3/17/1992
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<h3>
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<span class="mim-font">
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<strong>#</strong> 274600
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<div>
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<h3>
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<span class="mim-font">
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PENDRED SYNDROME; PDS
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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 WITH GOITER<br />
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GOITER-DEAFNESS SYNDROME<br />
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THYROID DYSHORMONOGENESIS 2B; TDH2B<br />
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THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B<br />
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HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
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<strong>SNOMEDCT:</strong> 70348004;
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<strong>ICD10CM:</strong> E07.1;
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<strong>ORPHA:</strong> 705;
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<strong>DO:</strong> 0060744;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Inheritance
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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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<td>
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<span class="mim-font">
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7q22.3
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<td>
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<span class="mim-font">
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Pendred syndrome
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</td>
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<td>
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<span class="mim-font">
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274600
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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SLC26A4
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</td>
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<td>
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<span class="mim-font">
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605646
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Pendred syndrome (PDS) is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene (605646) on chromosome 7q.</p><p>There is evidence that Pendred syndrome may also rarely be caused by digenic inheritance of a heterozygous mutation in the SLC26A4 gene and a heterozygous mutation in the FOXI1 gene (601093).</p><p>Mutation in the SLC26A4 gene can also cause autosomal recessive deafness-4 (DFNB4; 600791) with enlarged vestibular aqueduct (EVA).</p>
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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>Description</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>Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274400).</p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>A mild type of organification defect is associated with congenital deafness. Patients show only partial discharge of iodide (25 to 50%) when thiocyanate or perchlorate is given (Fraser et al., 1960). Their thyroids are moderately enlarged from childhood. Patients are usually euthyroid, although an exaggerated response to thyrotropin-releasing hormone (TRH; 613879) suggests a compensated hypothyroidism (Gomez-Pan et al., 1974); mental retardation has been reported (Thompson et al., 1970). Massa et al. (2003) found that a solitary thyroid nodule may be the presenting feature. Thyroid carcinoma has been observed (Thieme, 1957; Elman, 1958; Milutinovic et al., 1969); because of the characteristically 'wild' histology, malignancy may be incorrectly diagnosed. The deafness is neurosensory in type and sometimes associated with defective vestibular function. The deafness may be present at birth or develop in early childhood. Batsakis and Nishiyama (1962) estimated that Pendred syndrome accounts for 1 to 10% of hereditary deafness. </p><p>Illum et al. (1972) reported 15 cases. They showed a pedigree in which 8 proven cases and several presumed cases occurred in 3 generations of a family in a pseudodominant pattern (same family as that of Johnsen, 1958). In 1 patient, histologic examination showed a Mondini type malformation of the cochlea (i.e., only the basal cochlear turn was retained while the apical turns formed a common cavity). In 6 and perhaps 7 of the other 14 cases, the same defect was demonstrated by tomography of the temporal bones in the axial-pyramidal projection. The authors suggested that peroxidase deficiency may be responsible for the cochlear lesion as well as the thyroid defect. </p><p>Peroxidase activity is normal in Pendred syndrome (Burrow et al., 1973; Ljunggren et al., 1973; Cave and Dunn, 1975). There appear to be different varieties of Pendred syndrome, because Hollander et al. (1964) found a defect involving, apparently, an abnormal condensation of iodotyrosines to form iodothyronines, rather than an inadequate iodination of tyrosine. Milutinovic et al. (1969) found about 80% of the protein-bound radioiodine in the normal 19S human thyroglobulin fraction from a Pendred gland. On the other hand, Medeiros-Neto et al. (1968) found less than 15% in the 19S fraction. Desai et al. (1974) found a 15.2-16.8S radioiodinated thyroidal protein with immunologic properties of normal thyroglobulin. Fraser (1967) raised the question of whether the organification defect without deafness, as described by Stanbury and Hedge (1950) and later by Furth et al. (1967), was different from the organification defect with deafness as described by Pendred. He proposed that variability in severity of the same defect may be involved and supported this contention with a description of a patient with unilateral deafness whose sister had Pendred syndrome and bilateral deafness. Also, cases of the full syndrome and cases with near-normal hearing occurred in the same family. </p><p>Cremers et al. (1998) described a boy whose bilateral sensorineural hearing loss progressed rapidly from about 50 to 60 decibels at the age of 3 years and 3 months to more than 100 decibels at the age of 4 years and 4 months. A search for the cause of the progressive hearing loss led to discovery of dysplasia of the cochlea and a widened vestibular aqueduct. Thyroid function tests were normal, but thyroglobulin (TG; 188450) was elevated. The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of the iodine in the thyroid gland. A widened vestibular aqueduct occurs also in branchiootorenal dysplasia (113650). </p><p>Phelps et al. (1998) presented data on the radiologic malformations of the ear in 40 patients, all complying with strict diagnostic criteria for Pendred syndrome. Deficiency of the interscalar septum in the distal coils of the cochlea (Mondini deformity) was found to be common but probably not a constant feature of Pendred syndrome. On the other hand, enlargement of the endolymphatic sac and duct in association with a large vestibular aqueduct was present in all 20 patients examined by MRI. Phelps et al. (1998) concluded that thin section high resolution MRI on a T2 protocol in the axial and sagittal planes is the imaging investigation of choice in this disorder. They concluded that 'if there is uncertainty about cochlear malformation being a constant feature of Pendred syndrome, there can be little doubt as to the importance of enlarged vestibular aqueduct, endolymphatic sac, and endolymphatic duct, which were almost constant features' in their series. </p><p>Neither Pendred syndrome patients nor pendrin (605646)-deficient knockout mice had been reported to develop overt acid-base disturbances, such as metabolic alkalosis. Royaux et al. (2001) demonstrated that pendrin is an apical anion transporter in intercalated cells of the cortical collecting ducts of the kidney and has an essential role in renal bicarbonate secretion. The fact that patients have not shown abnormalities with reference to the kidney probably reflects the fact that the kidney has other means of regulating bicarbonate excretion. Overt abnormalities in acid-base balance in pendrin-deficient humans may be induced under conditions of extensive alkali loading or severe metabolic alkalosis. </p>
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<strong>Pathogenesis</strong>
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<p>McKusick (1986) noted a possible relationship between progression of deafness and the occurrence of trauma. Lesions in the organ of Corti have been produced in the chick and rat by administration of propylthiouracil during embryogenesis. The lesion did not occur when thyroxine was given with the antithyroid drug (Bargman and Gardner, 1967). </p><p>Sheffield et al. (1996) stated that very few in vitro studies of thyroid tissue from Pendred patients had previously been reported, and no biochemical abnormality had been found consistently. Therefore, the possibility of a circulating inhibitor of organification had not been previously excluded. By measuring the major steps of thyroid hormonogenesis simultaneously in cryopreserved cultured cells from Pendred patients, Sheffield et al. (1996) conclusively showed the presence of a post-cAMP and post-iodine-uptake defect. Furthermore, they found that the magnitude of the organification defects was similar to the decrease in T3 secretion, suggesting that in Pendred syndrome patients iodide organification may be the rate-limiting step in thyroid hormone secretion. </p><p>Taylor et al. (2002) investigated the effect of 9 SLC26A4 missense mutations on pendrin localization and iodide transport. Transient expression of green fluorescent protein-tagged pendrin mutant constructs in mammalian cell lines demonstrated appropriate trafficking to the plasma membrane for only 2 mutants. The remaining SLC26A4 mutants appeared to be retained within the endoplasmic reticulum following transfection. Iodide efflux assays were performed. The results indicated loss of pendrin iodide transport for all mislocalizing mutations. However, SLC26A4 mutants are associated with variable thyroid dysfunction in affected subjects. The authors concluded that additional genetic and/or environmental factors influence the thyroid activity in Pendred syndrome. </p>
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<strong>Diagnosis</strong>
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<p>The perchlorate discharge test, the gold-standard investigation for Pendred syndrome, is nonspecific, and in the absence of alternative means of confirming the diagnosis, its sensitivity is unknown. Reardon et al. (1997) used the mapping of the Pendred syndrome gene to 7q to identify pedigrees, and assessed the prevalence of clinical parameters of disease in affected individuals. Cosegregation between disease and the locus on 7q was found in 36 familial cases. Clinical and investigative findings were compared in 18 index cases versus 18 affected sibs. The overall prevalence of goiter was 73%, higher in index cases (94%) than in sibs (56%), many of whom had not previously been considered to have the condition. One perchlorate discharge test was false-negative (2.9%). Radiologic malformations of the cochlea were identified in 86% of cases. Reardon et al. (1997) concluded that securing a diagnosis of Pendred syndrome may be difficult, especially in the single case. They noted that the perchlorate discharge test, although valuable, is difficult to undertake in the younger patient, and radiology may assist in diagnosing such patients. </p><p>Reardon et al. (1999) performed perchlorate discharge tests in 57 individuals with Pendred syndrome. In 52 (21 males and 31 females, age range 9 to 54 years) a discharge of greater than 10% of radioiodide was observed (less than 10% is regarded as normal in control subjects). Goiter was present in 43 (83%) of the cohort and generally developed after the age of 10 years. Fifty-six percent remained euthyroid, and 19 (44%) had objective evidence of hypothyroidism. Reardon et al. (1999) concluded that thyroid dysfunction in Pendred syndrome is variable, and that inclusion of goiter as a diagnostic requirement will lead to underascertainment. </p><p>Reardon et al. (2000) stated that enlargement of the vestibular aqueduct, a radiologic marker, should be considered as the most likely presentation of Pendred syndrome. They found that 49 of 57 cases of deafness with enlarged vestibular aqueducts had signs of Pendred syndrome. They suggested that Pendred syndrome might be recharacterized as deafness with enlargement of the vestibular aqueduct that is sometimes associated with goiter. </p><p>Masmoudi et al. (2000) found that of 23 members of a family with Pendred syndrome, all who underwent CT scan of the inner ear had a widened vestibular aqueduct. However, only 11 of the patients had goiter; 8 of these patients who were tested had a normal result on perchlorate discharge test. This finding called into question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome. Masmoudi et al. (2000) suggested the use of molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphologic anomaly even in the absence of thyroid goiter. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Fraser (1965) estimated the frequency in the British Isles to be about 0.000075. </p><p>Pourova et al. (2010) screened the SLC26A4 gene in 303 Czech patients with early-onset hearing loss. The patients were divided into 3 groups: 22 with EVA and/or Mondini malformation on imaging, 220 patients without imaging available, and 61 patients with EVA/Mondini-negative imaging studies. Biallelic SLC26A4 mutations were found in 6 (27.3%) patients in the first group, 2 (0.9%) patients in the second group, and none (0%) in the third group; 4 of the 8 patients with biallelic mutations had goiter, consistent with Pendred syndrome. Monoallelic SLC26A4 mutations were found in 3 (13.6%) patients in the first group, 12 (5.5%) patients in the second group, and 3 (4.9%) patients in the third group. The most frequent mutations were V138F (605646.0024) and L445W (605646.0018), in 18% and 8.9% alleles, respectively. Among 13 patients with bilateral EVA, 6 (46%) carried biallelic mutations. No biallelic mutations were found in EVA-negative patients, but 4.9% had monoallelic mutations. Overall, biallelic mutations were found in only 2.7% of all patients, but were more common in familial cases. The findings also suggested that a single SLC25A4 mutation may contribute to the phenotype, perhaps in concert with mutations in other genes. </p>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Van Wouwe et al. (1986) found Pendred syndrome in a severely retarded girl with duplication-deficiency: duplication in 10p and deficiency in distal 8q. The father carried a de novo balanced translocation between 8q and 10p: t(8;10)(q24;p11). The authors raised the possibility that Pendred syndrome maps to 8q24-qter. It should be noted that the structural gene for thyroglobulin is in this segment. Although the proposita had deafness and hypothyroidism consistent with Pendred syndrome, as well as a marked reduction of (123)I uptake on perchlorate test, is it possible she has a thyroglobulin synthesis defect such as that discussed in 274900 and that the deafness has other cause? </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage studies, Gausden et al. (1996) excluded the thyroid peroxidase gene (606765) on chromosome 2 as the site of the mutation in their families with Pendred syndrome. This confirmed that at least 1 further step is required for complete organification of iodide within the thyroid. Observations that when both parents are affected there was no complementation for the disease phenotype suggested homogeneity. Coyle et al. (1996) excluded at least 8 autosomal recessive loci for nonsyndromic deafness that had been reported, although up to that time none had been cloned. However, they did find significant linkage to the DFNB4 locus (600791) located on 7q31. Twelve families with 2 or more affected individuals with Pendred syndrome were studied. </p><p>Sheffield et al. (1996) used a DNA-pooling strategy in an inbred kindred with 5 affected sibs and 2 other affected members to perform a genomewide linkage search for the Pendred syndrome disease locus. They mapped the locus to an approximately 9-cM interval on chromosome 7 in the 7q21-q34 region. </p><p>Gausden et al. (1997), who concluded that the PDS locus is situated at 7q31 where a form of nonsyndromic deafness, DFNB4, had also been mapped, studied 5 kindreds and narrowed the locus to an interval between D7S501 and D7S525, separated by a genetic distance estimated to be 2.5 cM. </p><p>Coucke et al. (1997) concluded that the candidate region of approximately 1.7 cM is flanked by markers D7S501 and D7S692. </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>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of PDS in the families reported by Everett et al. (1997) was consistent with autosomal recessive inheritance. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>For a more complete discussion of the molecular genetics of Pendred syndrome, see the entry for the SLC26A4 gene (605646).</p><p>Everett et al. (1997) used a positional cloning strategy to identify the gene (SLC26A4) mutated in Pendred syndrome. In PDS families, Everett et al. (1997) found 3 apparently deleterious homozygous mutations, each segregating with the disease in the respective families in which they occurred (e.g., 605646.0001). Everett et al. (1997) speculated that Pendred syndrome may be more common than previously thought. They pointed out that another recessive locus for deafness, designated DFNB4 (600791), maps to 7q31, the same region as the PDS gene. They considered it likely that individuals reported with DFNB4 actually have Pendred syndrome rather than mutations in another gene. </p><p>In the index patient with PDS from a consanguineous kindred from northeastern Brazil, Kopp et al. (1999) found homozygosity for a 279delT mutation (605646.0016) in exon 3 of the PDS gene. The index patient showed the classic triad of deafness, positive perchlorate test, and goiter. Two other patients with deafness were homozygous for this mutation; 19 were heterozygous and 14 were homozygous for the wildtype allele. Surprisingly, 6 deaf individuals in this kindred were not homozygous for the 279delT mutation; 3 were heterozygous and 3 were homozygous for the wildtype allele, suggesting a probable distinct genetic cause for their deafness. The authors concluded from comparison of phenotypes and genotypes that phenocopies generated by distinct environmental and/or genetic causes were present in this kindred and that the diagnosis of PDS may be difficult without molecular analysis. </p><p>The identification of the disease gene for Pendred syndrome prompted the need to reevaluate the syndrome to identify possible clues for the diagnosis. To this purpose, Fugazzola et al. (2000) conducted a molecular analysis and full clinical, biochemical, and radiologic examination in 3 Italian families presenting with clinical features of Pendred syndrome. A correlation between genotype and phenotype was found in 1 patient with enlargement of vestibular aqueduct and endolymphatic duct and sac at magnetic resonance imaging. This subject was a compound heterozygote for a deletion in SLC26A4 exon 10 (1197delT; 605646.0020) and a novel insertion in exon 19 (2182-2183insG; 605646.0021). The authors concluded that their study demonstrates the value of the combination of clinical/radiologic and genetic studies in the diagnosis of Pendred syndrome. </p><p>The hearing loss that occurs in Pendred syndrome or in isolation as DFNB4 is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct to Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns. Campbell et al. (2001) found mutations in 5 of 6 multiplex families with EVA (83%) and in 4 of 5 multiplex families with Mondini dysplasia (80%), implying that mutations in the SLC26A4 gene are the major genetic cause of these temporal abnormalities. In their analyses of Pendred syndrome and DFNB4, they found that the 2 most common mutations, T416P (605646.0006) and IVS8+1G-A (605646.0007), were present in 22% and 30% of families, respectively. </p><p>Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. </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>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tsukamoto et al. (2003) screened 10 Japanese families with Pendred syndrome, 32 Japanese families with bilateral sensorineural hearing loss associated with enlarged vestibular aqueduct (EVA), and 96 unrelated Japanese controls for mutations in the SLC26A4 gene. They identified causative mutations in 90% of the typical Pendred syndrome families and in 78.1% of those with sensorineural hearing loss with EVA. None of their patients had the Mondini malformation. Tsukamoto et al. (2003) noted that the same combination of mutations resulted in variable phenotypic expression, suggesting that these 2 conditions are part of a continuous spectrum of disease. </p><p>Pryor et al. (2005) evaluated the clinical phenotype and SLC26A4 genotype of 39 patients with EVA from 31 families, definitively classifying 29 individuals. All 11 PDS patients had 2 mutant SLC26A4 alleles, whereas all 18 nonsyndromic EVA patients had either 1 or no SLC26A4 mutant alleles. Pryor et al. (2005) concluded that PDS and nonsyndromic EVA are distinct clinical and genetic entities, with PDS being a genetically homogeneous disorder caused by biallelic SLC26A4 mutations, and at least some cases of nonsyndromic EVA being associated with a single SLC26A4 mutation. They noted that the detection of a single mutant SLC26A4 allele is incompletely diagnostic without additional clinical evaluation to differentiate PDS from nonsyndromic EVA. </p><p>Recessive mutations in the anion transporter gene SLC26A4 are responsible for Pendred syndrome and for nonsyndromic hearing loss associated with EVA. However, a large percentage of patients with these phenotypes lack mutations in the SLC26A4 coding region in one or both alleles. Yang et al. (2007) identified and characterized a key transcriptional regulatory element in the SLC26A4 promoter that binds FOXI1 (601093), which is a transcriptional activator of SLC26A4. They found 9 patients with Pendred syndrome or nonsyndromic EVA who were heterozygous for a novel -103T-C mutation (605646.0027) in this regulatory element, which interfered with FOXI1 binding and completely abolished FOXI1-mediated transcriptional activation. They also identified 2 Pendred and 4 EVA patients with heterozygous mutations in FOXI1 that compromised its ability to activate SLC26A4 transcription; 1 of the latter EVA patients was a double heterozygote who also carried a heterozygous mutation in the SLC26A4 gene (see 605646.0028 and 601093.0001). This finding was consistent with their observation that EVA occurs in the mouse mutant doubly heterozygous for mutations in these 2 genes, and the results supported a dosage-dependent model for the molecular pathogenesis of Pendred syndrome and nonsyndromic EVA that involves SLC26A4 and its transcriptional regulatory machinery. Yang et al. (2007) stated the this was the first example of digenic inheritance to be verified as a cause of human deafness. </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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Everett et al. (2001) generated a Pds knockout mouse. Pds -/- mice are completely deaf and also display signs of vestibular dysfunction. The inner ears appear to develop normally until embryonic day 15, after which time severe endolymphatic dilatation occurs, reminiscent of that seen radiologically in deaf individuals with PDS mutations. Additionally, in the second postnatal week severe degeneration of sensory cells and malformation of otoconia and otoconial membranes occur, as revealed by scanning electron and fluorescence confocal microscopy. No thyroid abnormality was noted in this particular mouse strain (in a 129Sv/Ev background). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>This syndrome was described by Vaughan Pendred (1896). It was exactly a century later that Coyle et al. (1996) and Sheffield et al. (1996) showed that the disorder maps to chromosome 7q. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Bargman, G. J., Gardner, L. I.
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<strong>Otic lesions and congenital hypothyroidism in the developing chick.</strong>
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J. Clin. Invest. 46: 1828-1839, 1967.
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[PubMed: 6070327]
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[Full Text: https://doi.org/10.1172/JCI105673]
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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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Batsakis, J. G., Nishiyama, R. H.
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<strong>Deafness with sporadic goiter: Pendred's syndrome.</strong>
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Arch. Otolaryng. 76: 401-406, 1962.
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[PubMed: 13966825]
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[Full Text: https://doi.org/10.1001/archotol.1962.00740050413004]
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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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Burrow, G. N., Spaulding, S. W., Alexander, N. M., Bower, B. F.
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<strong>Normal peroxidase activity in Pendred's syndrome.</strong>
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J. Clin. Endocr. 36: 522-530, 1973.
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[PubMed: 4346605]
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[Full Text: https://doi.org/10.1210/jcem-36-3-522]
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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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Campbell, C., Cucci, R. A., Prasad, S., Green, G. E., Edeal, J. B., Galer, C. E., Karniski, L. P., Sheffield, V. C., Smith, R. J. H.
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<strong>Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.</strong>
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Hum. Mutat. 17: 403-411, 2001.
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[PubMed: 11317356]
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[Full Text: https://doi.org/10.1002/humu.1116]
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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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Cave, W. T., Jr., Dunn, J. T.
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<strong>Studies on the thyroidal defect in an atypical form of Pendred's syndrome.</strong>
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J. Clin. Endocr. Metab. 41: 590-599, 1975.
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Sheffield, V. C., Kraiem, Z., Beck, J. C., Nishimura, D., Stone, E. M., Salameh, M., Sadeh, O., Glaser, B.
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<strong>Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.</strong>
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Nature Genet. 12: 424-426, 1996.
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[PubMed: 8630498]
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[Full Text: https://doi.org/10.1038/ng0496-424]
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Stanbury, J. B., Hedge, A. N.
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<strong>A study of a family of goitrous cretins.</strong>
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J. Clin. Endocr. 10: 1471-1484, 1950.
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[PubMed: 14794763]
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[Full Text: https://doi.org/10.1210/jcem-10-11-1471]
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Taylor, J. P., Metcalfe, R. A., Watson, P. F., Weetman, A. P., Trembath, R. C.
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<strong>Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.</strong>
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J. Clin. Endocr. Metab. 87: 1778-1784, 2002.
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[Full Text: https://doi.org/10.1210/jcem.87.4.8435]
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Thieme, E. T.
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<strong>A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family.</strong>
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Ann. Surg. 146: 941-948, 1957.
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[PubMed: 13488373]
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[Full Text: https://doi.org/10.1097/00000658-195712000-00008]
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Thompson, J., Maguire, W. C., Hurwitz, L. J.
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<strong>A family with deafness, goiter, epilepsy and low intelligence segregating independently.</strong>
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Irish J. Med. Sci. 3: 427-431, 1970.
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[PubMed: 5517050]
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[Full Text: https://doi.org/10.1007/BF02962164]
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Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S.
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<strong>Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.</strong>
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Europ. J. Hum. Genet. 11: 916-922, 2003.
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[PubMed: 14508505]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201073]
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van Wouwe, J. P., Wijnands, M. C., Mourad-Baars, P. E. C., Geraedts, J. P. M., Beverstock, G. C., van de Kamp, J. J. P.
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<strong>A patient with dup(10p)del(8q) and Pendred syndrome.</strong>
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Am. J. Med. Genet. 24: 211-217, 1986.
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[PubMed: 3717206]
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[Full Text: https://doi.org/10.1002/ajmg.1320240202]
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Yang, T., Vidarsson, H., Rodrigo-Blomqvist, S., Rosengren, S. S., Enerback, S., Smith, R. J. H.
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<strong>Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).</strong>
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Am. J. Hum. Genet. 80: 1055-1063, 2007. Note: Erratum: Am. J. Hum. Genet. 81: 634 only, 2007.
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[PubMed: 17503324]
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[Full Text: https://doi.org/10.1086/518314]
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Contributors:
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Cassandra L. Kniffin - updated : 6/12/2012<br>Marla J. F. O'Neill - updated : 8/9/2007<br>Marla J. F. O'Neill - updated : 2/16/2006<br>Marla J. F. O'Neill - updated : 6/23/2005<br>Marla J. F. O'Neill - updated : 3/1/2005<br>Marla J. F. O'Neill - updated : 6/2/2004<br>Natalie E. Krasikov - updated : 3/12/2004<br>John A. Phillips, III - updated : 10/10/2002<br>Victor A. McKusick - updated : 8/6/2001<br>Victor A. McKusick - updated : 4/17/2001<br>George E. Tiller - updated : 3/13/2001<br>John A. Phillips, III - updated : 2/20/2001<br>John A. Phillips, III - updated : 2/12/2001<br>John A. Phillips, III - updated : 2/9/2001<br>Victor A. McKusick - updated : 11/29/2000<br>Victor A. McKusick - updated : 11/1/2000<br>George E. Tiller - updated : 9/19/2000<br>John A. Phillips, III - updated : 6/6/2000<br>Victor A. McKusick - updated : 12/21/1999<br>John A. Phillips, III - updated : 11/18/1999<br>Michael J. Wright - updated : 10/26/1999<br>Victor A. McKusick - updated : 9/20/1999<br>Ada Hamosh - updated : 3/31/1999<br>Ada Hamosh - updated : 3/19/1999<br>Victor A. McKusick - updated : 11/16/1998<br>Victor A. McKusick - updated : 10/15/1998<br>Victor A. McKusick - updated : 8/24/1998<br>Victor A. McKusick - updated : 7/8/1998<br>Victor A. McKusick - updated : 2/24/1998<br>Victor A. McKusick - updated : 12/2/1997<br>Victor A. McKusick - updated : 3/25/1997<br>Victor A. McKusick - updated : 3/6/1997<br>Moyra Smith - updated : 12/20/1996
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Victor A. McKusick : 6/4/1986
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