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Entry
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- #233400 - PERRAULT SYNDROME 1; PRLTS1
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- OMIM
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<span class="h4">#233400</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/233400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS233400"> <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="#heterogeneity">Heterogeneity</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PERRAULT 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=2589&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="https://www.ncbi.nlm.nih.gov/books/NBK242617/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=233400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2855" 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/38c7afdc-6698-4e7b-b511-fb944173921a/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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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050857" 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/233400" 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:0050857" 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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</span>
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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 93466004<br />
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<strong>ORPHA:</strong> 2855<br />
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<strong>DO:</strong> 0050857<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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233400
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
PERRAULT SYNDROME 1; PRLTS1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS<br />
|
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GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/5/392?start=-3&limit=10&highlight=392">
|
|
5q23.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Perrault syndrome 1
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/233400"> 233400 </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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HSD17B4
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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/601860"> 601860 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/233400" 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>
|
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</button>
|
|
</div>
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS233400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<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>
|
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</div>
|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/233400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/233400" 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>
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<div>
|
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<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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<div>
|
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<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> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Hearing loss, sensorineural <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Limited extraocular movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858427</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007941" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007941</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007941" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007941</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Immature genitalia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550370</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ovarian dysgenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205683001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205683001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342510</a>]</span><br /> -
|
|
Small ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289837004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289837004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567252</a>]</span><br /> -
|
|
Lack of ovaries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550371</a>]</span><br /> -
|
|
Streak gonads <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84814009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84814009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266360</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025733</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Feet </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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|
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Pes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203572004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203572004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.54</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158489</a>, <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Weakness of the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed motor development (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Cognitive impairment (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
|
|
Ataxic gait (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
|
|
Spastic diplegia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281411007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281411007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G80.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023882</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span><br /> -
|
|
Dysarthria (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Cognitive impairment (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
|
|
Cerebellar atrophy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorimotor demyelinating or axonal peripheral neuropathy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012022&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012022</a>]</span><br /> -
|
|
Hyporeflexia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Areflexia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Amenorrhea, primary <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/156035004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">156035004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8913004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8913004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N91.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N91.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232939</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000786" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000786</a>]</span><br /> -
|
|
Increased gonadotropin levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151678</a>]</span><br /> -
|
|
Low estradiol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0860850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860850</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Decreased beta-oxidation of pristanic acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012023&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Onset of deafness in early childhood<br /> -
|
|
Affected females are infertile<br /> -
|
|
Some females have only deafness and ovarian dysgenesis without neurologic abnormalities<br /> -
|
|
Affected males have normal pubertal development and are fertile<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the 17-beta-hydroxysteroid dehydrogenase 4 gene (HSD17B4, <a href="/entry/601860#0008">601860.0008</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Perrault syndrome
|
|
- <a href="/phenotypicSeries/PS233400">PS233400</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1228?start=-3&limit=10&highlight=1228"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/621101"> Perrault syndrome 7 </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">
|
|
<a href="/entry/621101"> 621101 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602074"> DAP3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602074"> 602074 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/238?start=-3&limit=10&highlight=238"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615300"> Perrault syndrome 4 </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">
|
|
<a href="/entry/615300"> 615300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604544"> LARS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604544"> 604544 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/392?start=-3&limit=10&highlight=392"> 5q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/233400"> Perrault syndrome 1 </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">
|
|
<a href="/entry/233400"> 233400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601860"> HSD17B4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601860"> 601860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/545?start=-3&limit=10&highlight=545"> 5q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614926"> Perrault syndrome 2 </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">
|
|
<a href="/entry/614926"> 614926 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600783"> HARS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600783"> 600783 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/489?start=-3&limit=10&highlight=489"> 10q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616138"> Perrault syndrome 5 </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">
|
|
<a href="/entry/616138"> 616138 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606075"> TWNK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606075"> 606075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/353?start=-3&limit=10&highlight=353"> 17q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617565"> Perrault syndrome 6 </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">
|
|
<a href="/entry/617565"> 617565 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607435"> ERAL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607435"> 607435 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/176?start=-3&limit=10&highlight=176"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614129"> Perrault syndrome 3 </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">
|
|
<a href="/entry/614129"> 614129 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601119"> CLPP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601119"> 601119 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
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<p>A number sign (#) is used with this entry because of evidence that Perrault syndrome-1 (PRLTS1) is caused by compound heterozygous mutation in the HSD17B4 gene (<a href="/entry/601860">601860</a>) on chromosome 5q23.</p>
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<p>Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by <a href="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al., 2010</a>). <a href="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al. (2010)</a> noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Genetic Heterogeneity of Perrault Syndrome</em></strong>
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<div class="mim-changed mim-change"><p>See also PRLTS2 (<a href="/entry/614926">614926</a>), caused by mutation in the HARS2 gene (<a href="/entry/600783">600783</a>) on chromosome 5q31; PRLTS3 (<a href="/entry/614129">614129</a>), caused by mutation in the CLPP gene (<a href="/entry/601119">601119</a>) on chromosome 19p13; PRLTS4 (<a href="/entry/615300">615300</a>), caused by mutation in the LARS2 gene (<a href="/entry/604544">604544</a>) on chromosome 3p21; PRLTS5 (<a href="/entry/616138">616138</a>), caused by mutation in the TWNK gene (<a href="/entry/606075">606075</a>) on chromosome 10q24; PRLTS6 (<a href="/entry/617565">617565</a>), caused by mutation in the ERAL1 gene (<a href="/entry/607435">607435</a>) on chromosome 17q11; and PRLTS7 (<a href="/entry/621101">621101</a>), caused by mutation in the DAP3 gene (<a href="/entry/602074">602074</a>) on chromosome 1q22.</p></div>
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<p>See COXPD54 (<a href="/entry/619737">619737</a>), which can manifest as Perrault syndrome.</p>
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<p><a href="#14" class="mim-tip-reference" title="Perrault, M., Klotz, B., Housset, E. <strong>Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie.</strong> Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14821788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14821788</a>]" pmid="14821788">Perrault et al. (1951)</a> described 2 sisters with a syndrome comprising sensorineural deafness and ovarian dysgenesis. The parents were cousins, suggesting autosomal recessive inheritance. <a href="#6" class="mim-tip-reference" title="Josso, N., de Grouchy, J., Frezal, J., Lamy, M. <strong>Le syndrome de Turner familial; etude de deux families avec caryotypes XO et XX.</strong> Ann. Pediat. 10: 163-167, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14122073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14122073</a>]" pmid="14122073">Josso et al. (1963)</a> restudied the sisters reported by <a href="#14" class="mim-tip-reference" title="Perrault, M., Klotz, B., Housset, E. <strong>Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie.</strong> Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14821788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14821788</a>]" pmid="14821788">Perrault et al. (1951)</a> as adults and showed that both had a normal 46,XX karyotype. Both were deaf-mute and lacked ovaries on laparoscopy. Both sisters had castrate levels of gonadotropins. In addition, the older sister was obese and had a short neck. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14821788+14122073" 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="#10" class="mim-tip-reference" title="McCarthy, D. J., Opitz, J. M. <strong>Perrault syndrome in sisters.</strong> Am. J. Med. Genet. 22: 629-631, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>] [<a href="https://doi.org/10.1002/ajmg.1320220324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061497">McCarthy and Opitz (1985)</a> described 2 sisters from Montana with Perrault syndrome. The girls were ages 15 and 4 years, respectively. Both had early-onset severe sensorineural deafness, and the older girl had delayed pubertal development with low urinary gonadotropin levels. The older sister also had neurologic abnormalities, including delayed motor development and mild spastic diplegia with weakness of the lower limbs, pes cavus, and contracted heel cords. She also had mild dysmorphic facial features. However, she had had a difficult birth, which may have contributed to the neurologic features. The younger sister did not have these extra anomalies. <a href="#3" class="mim-tip-reference" title="Fiumara, A., Sorge, G., Toscano, A., Parano, E., Pavone, L., Opitz, J. M. <strong>Perrault syndrome: evidence for progressive nervous system involvement.</strong> Am. J. Med. Genet. 128A: 246-249, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216544</a>] [<a href="https://doi.org/10.1002/ajmg.a.20616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216544">Fiumara et al. (2004)</a> restudied the pair of sisters reported by <a href="#10" class="mim-tip-reference" title="McCarthy, D. J., Opitz, J. M. <strong>Perrault syndrome in sisters.</strong> Am. J. Med. Genet. 22: 629-631, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>] [<a href="https://doi.org/10.1002/ajmg.1320220324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061497">McCarthy and Opitz (1985)</a>. The older sister was found to have electrophysiologic evidence of a peripheral axonal neuropathy as well as cerebellar hypoplasia. Her condition had progressed by her twenties, and she required a wheelchair. Other features included nystagmus on lateral gaze, dysarthria, mild titubation of the head, hyporeflexia, sensory neuropathy, and learning difficulties. The younger sister had also developed similar, but milder, neurologic signs. She had progressive weakness, pes cavus, axonal neuropathy, and ovarian failure with minimal pubertal development. Metabolic and mitochondrial testing were normal. In the sisters with Perrault syndrome and neurologic abnormalities reported by <a href="#10" class="mim-tip-reference" title="McCarthy, D. J., Opitz, J. M. <strong>Perrault syndrome in sisters.</strong> Am. J. Med. Genet. 22: 629-631, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>] [<a href="https://doi.org/10.1002/ajmg.1320220324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061497">McCarthy and Opitz (1985)</a> and <a href="#3" class="mim-tip-reference" title="Fiumara, A., Sorge, G., Toscano, A., Parano, E., Pavone, L., Opitz, J. M. <strong>Perrault syndrome: evidence for progressive nervous system involvement.</strong> Am. J. Med. Genet. 128A: 246-249, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216544</a>] [<a href="https://doi.org/10.1002/ajmg.a.20616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216544">Fiumara et al. (2004)</a>, <a href="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al. (2010)</a> identified 2 mutations in the HSD17B4 gene (<a href="/entry/601860#0008">601860.0008</a> and <a href="/entry/601860#0009">601860.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4061497+20673864+15216544" 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="#13" class="mim-tip-reference" title="Perez-Ballester, B., Greenblatt, R. B., Byrd, J. R. <strong>Familial gonadal dysgenesis.</strong> Am. J. Obstet. Gynec. 107: 1262-1263, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5458581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5458581</a>] [<a href="https://doi.org/10.1016/s0002-9378(15)30379-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5458581">Perez-Ballester et al. (1970)</a> reported 2 sisters with primary amenorrhea, sexual infantilism, congenital nerve deafness, streak gonads, and 46,XX karyotype. The patients responded well to cyclic estrogen therapy. <a href="#1" class="mim-tip-reference" title="Bosze, P., Skripeczky, K., Gaal, M., Toth, A., Laszlo, J. <strong>Perrault's syndrome in two sisters.</strong> Am. J. Med. Genet. 16: 237-241, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6650568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6650568</a>] [<a href="https://doi.org/10.1002/ajmg.1320160213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6650568">Bosze et al. (1983)</a> reported affected sisters. In the family reported by <a href="#2" class="mim-tip-reference" title="Christakos, A. C., Simpson, J. L., Younger, J. B., Christian, C. D. <strong>Gonadal dysgenesis as an autosomal recessive condition.</strong> Am. J. Obstet. Gynec. 104: 1027-1030, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794832</a>] [<a href="https://doi.org/10.1016/0002-9378(69)90697-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5794832">Christakos et al. (1969)</a>, 2 out of 3 sisters with gonadal dysgenesis and a sexually normal brother had bilateral sensorineural hearing deficits. Two of the girls had mental retardation. The parents were second cousins, suggesting an autosomal recessive condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6650568+5794832+5458581" 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="#12" class="mim-tip-reference" title="Nishi, Y., Hamamoto, K., Kajiyama, M., Kawamura, I. <strong>The Perrault syndrome: clinical report and review.</strong> Am. J. Med. Genet. 31: 623-629, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3067578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3067578</a>] [<a href="https://doi.org/10.1002/ajmg.1320310317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3067578">Nishi et al. (1988)</a> described this disorder in 2 Japanese sisters. In addition to ovarian dysgenesis and sensorineural deafness, they had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. The authors' review of the literature included 21 patients from 8 families; 3 deaf males had no gonadal defect, and 1 woman with ovarian dysgenesis had no deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3067578" 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="Linssen, W. H. J. P., Van den Bent, M. J., Brunner, H. G., Poels, P. J. E. <strong>Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?</strong> Am. J. Med. Genet. 51: 81-82, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8030674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8030674</a>] [<a href="https://doi.org/10.1002/ajmg.1320510117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8030674">Linssen et al. (1994)</a> presented the cases of 2 brothers and a sister with sensorineural deafness. Ovarian dysgenesis in the sister suggested diagnosis of Perrault syndrome. In addition, the patients had a sensory polyneuropathy and amelogenesis imperfecta. Two had mild mental retardation, fine choreatic movements, and dyspraxia. <a href="#8" class="mim-tip-reference" title="Linssen, W. H. J. P., Van den Bent, M. J., Brunner, H. G., Poels, P. J. E. <strong>Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?</strong> Am. J. Med. Genet. 51: 81-82, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8030674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8030674</a>] [<a href="https://doi.org/10.1002/ajmg.1320510117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8030674">Linssen et al. (1994)</a> were uncertain as to whether the condition in this family represented a separate clinical entity or could be included within the range of variability of the Perrault syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8030674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gottschalk, M. E., Coker, S. B., Fox, L. A. <strong>Neurologic anomalies of Perrault syndrome.</strong> Am. J. Med. Genet. 65: 274-276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923934</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923934">Gottschalk et al. (1996)</a> reported a brother and sister with sensorineural deafness; the sister also had ovarian dysgenesis, mental retardation, generalized ataxia of the trunk and limbs, and saccadic dysmetria. A CT scan showed cerebellar hypoplasia. The authors reviewed the 28 reported cases of Perrault syndrome; neurologic data were available for 14 of 21 females, 7 of whom had neurologic abnormalities. <a href="#4" class="mim-tip-reference" title="Gottschalk, M. E., Coker, S. B., Fox, L. A. <strong>Neurologic anomalies of Perrault syndrome.</strong> Am. J. Med. Genet. 65: 274-276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923934</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923934">Gottschalk et al. (1996)</a> suggested that ataxia or mental retardation may not be coincidental but rather pleiotropic manifestations of Perrault syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Fiumara, A., Sorge, G., Toscano, A., Parano, E., Pavone, L., Opitz, J. M. <strong>Perrault syndrome: evidence for progressive nervous system involvement.</strong> Am. J. Med. Genet. 128A: 246-249, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216544</a>] [<a href="https://doi.org/10.1002/ajmg.a.20616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216544">Fiumara et al. (2004)</a> described 2 pairs of sisters, one pair originally reported by <a href="#10" class="mim-tip-reference" title="McCarthy, D. J., Opitz, J. M. <strong>Perrault syndrome in sisters.</strong> Am. J. Med. Genet. 22: 629-631, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>] [<a href="https://doi.org/10.1002/ajmg.1320220324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061497">McCarthy and Opitz (1985)</a> and the other a new pair born of first-cousin parents. Both pairs of sisters had sensorineural deafness, ovarian dysgenesis, short stature, and mild mental retardation. During their teen years, they all developed severe, progressive sensory and motor peripheral neuropathy. <a href="#3" class="mim-tip-reference" title="Fiumara, A., Sorge, G., Toscano, A., Parano, E., Pavone, L., Opitz, J. M. <strong>Perrault syndrome: evidence for progressive nervous system involvement.</strong> Am. J. Med. Genet. 128A: 246-249, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216544</a>] [<a href="https://doi.org/10.1002/ajmg.a.20616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216544">Fiumara et al. (2004)</a> proposed that there are 2 forms of Perrault syndrome: an apparently nonprogressive form and another, exemplified by their patients and those described by <a href="#10" class="mim-tip-reference" title="McCarthy, D. J., Opitz, J. M. <strong>Perrault syndrome in sisters.</strong> Am. J. Med. Genet. 22: 629-631, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>] [<a href="https://doi.org/10.1002/ajmg.1320220324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061497">McCarthy and Opitz (1985)</a> and <a href="#12" class="mim-tip-reference" title="Nishi, Y., Hamamoto, K., Kajiyama, M., Kawamura, I. <strong>The Perrault syndrome: clinical report and review.</strong> Am. J. Med. Genet. 31: 623-629, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3067578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3067578</a>] [<a href="https://doi.org/10.1002/ajmg.1320310317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3067578">Nishi et al. (1988)</a>, with progressive axonal-cerebellar degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4061497+3067578+15216544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Marlin, S., Lacombe, D., Jonard, L., Leboulanger, N., Bonneau, D., Goizet, C., Billette de Villemeur, T., Cabrol, S., Houang, M., Moatti, L., Feldmann, D., Denoyelle, F. <strong>Perrault syndrome: Report of four new cases, review and exclusion of candidate genes.</strong> Am. J. Med. Genet. 146A: 661-664, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18241061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18241061</a>] [<a href="https://doi.org/10.1002/ajmg.a.32180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18241061">Marlin et al. (2008)</a> reported 2 unrelated females and 2 sisters with sensorineural hearing impairment and ovarian dysgenesis; 1 of the sporadic cases also had mental retardation and neurologic abnormalities, with cerebellar ataxia, nystagmus, ophthalmoplegia, bilateral ptosis, and neuropathy. The authors reviewed the 34 cases from 15 families reported to date, noting that a hearing defect was present in 33 cases and that ovarian dysgenesis was reported in all female cases. Of 29 cases with a detailed clinical description, 11 (9 females and 2 males) had no neurologic abnormalities reported. Because all familial cases have involved sibs and 4 of the 15 families reported were consanguineous, <a href="#9" class="mim-tip-reference" title="Marlin, S., Lacombe, D., Jonard, L., Leboulanger, N., Bonneau, D., Goizet, C., Billette de Villemeur, T., Cabrol, S., Houang, M., Moatti, L., Feldmann, D., Denoyelle, F. <strong>Perrault syndrome: Report of four new cases, review and exclusion of candidate genes.</strong> Am. J. Med. Genet. 146A: 661-664, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18241061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18241061</a>] [<a href="https://doi.org/10.1002/ajmg.a.32180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18241061">Marlin et al. (2008)</a> stated that transmission was probably autosomal recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18241061" 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="#11" class="mim-tip-reference" title="McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C. C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., FORGE Canada Consortium, Wanders, R. J. A., Majewski, J., Bulman, D. E., Geraghty, M. T., Ferdinandusse, S., Boycott, K. M. <strong>Specific combination of compound heterozygous mutations in 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.</strong> Orphanet J. Rare Dis. 7: 90, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23181892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23181892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23181892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/1750-1172-7-90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23181892">McMillan et al. (2012)</a> reported 2 teenaged brothers of European descent with a neurodegenerative disorder. They both developed sensorineural hearing loss in early childhood, followed by onset of a sensorimotor peripheral neuropathy. The older brother was more severely impaired, developing ataxia, pes cavus, and hammertoes around age 11 years after normal motor development. Visual acuity was normal, but detailed studies suggested rod dysfunction and retinal atrophy, consistent with retinitis pigmentosa. Brain MRI showed prominent cerebellar atrophy. The disorder was progressive; at age 16.5 years, he required a wheelchair for long distances. Growth and puberty were normal. The younger brother had similar but milder features, except for mildly delayed puberty at age 14. Both patients had normal cognition. Laboratory studies in both patients showed normal very long-chain and branched fatty acids and normal bile acids, although there was some reduction of pristanic acid beta-oxidation in patient fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23181892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Lines, M. A., Jobling, R., Brady, L., Marshall, C. R., Scherer, S. W., Rodriguez, A. R., Lee, L., Lang, A. E., Mestre, T. A., Wanders, R. J. A., Ferdinandusse, S., Tarnopolsky, M. A. <strong>Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.</strong> Neurology 82: 963-968, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24553428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24553428</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24553428">Lines et al. (2014)</a> reported 3 Italian sibs, including 2 sisters, with Perrault syndrome. All presented with sensorineural hearing loss in mid-childhood, followed by ataxia and progressive cognitive decline from adolescence onward. Brain imaging showed severe cerebellar atrophy, and the patients showed dysarthria and nystagmus. Other features included a progressive peripheral neuropathy with hyporeflexia and diminished sensation, lower extremity spasticity and weakness, pes cavus, and some hyperkinesia. Electrophysiologic studies indicated a motor demyelinating polyneuropathy. One sister had primary amenorrhea and the other had secondary amenorrhea; both had increased FSH and LH and decreased estradiol. The brother had increased FSH and decreased testosterone. The brother had a more complicated phenotype with progressive infra- and supratentorial white matter lesions and oligoclonal bands in the CSF. He also had internuclear ophthalmoplegia and severe intellectual disability, and became wheelchair-bound in his early thirties. Additional laboratory studies of all patients showed increased serum total bile acids, but phytanic and very long-chain fatty acids were normal. Patient fibroblasts showed decreased beta-oxidation of pristanic acid. Peroxisome morphology was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24553428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al. (2010)</a> found no mutations in the HSD17B4 gene in 6 families with hearing loss and ovarian dysgenesis, both with and without neurologic symptoms, thus demonstrating genetic heterogeneity of Perrault syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20673864" 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 9 families with Perrault syndrome, <a href="#15" class="mim-tip-reference" title="Pierce, S. B., Chisholm, K. M., Lynch, E. D., Lee, M. K., Walsh, T., Opitz, J. M., Li, W., Klevit, R. E., King, M.-C. <strong>Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.</strong> Proc. Nat. Acad. Sci. 108: 6543-6548, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21464306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21464306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21464306[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.1103471108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21464306">Pierce et al. (2011)</a> detected no mutations in the HSD17B or HARS2 genes, providing evidence for further genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21464306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G. <strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong> J. Neurol. 259: 974-976, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037954</a>] [<a href="https://doi.org/10.1007/s00415-011-6285-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037954">Jenkinson et al. (2012)</a> excluded mutations in the HSD17B4 and HARS2 genes in 8 families with Perrault syndrome, providing further evidence for genetic heterogeneity. Their families included patients with hearing loss and ovarian dysgenesis only, as well as patients with additional variable neurologic defects, such as peripheral neuropathy, microcephaly, ataxia, and seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22037954" 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 Perrault syndrome in the family reported by <a href="#14" class="mim-tip-reference" title="Perrault, M., Klotz, B., Housset, E. <strong>Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie.</strong> Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14821788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14821788</a>]" pmid="14821788">Perrault et al. (1951)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14821788" 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="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al. (2010)</a> performed whole-exome sequencing of genomic DNA from 1 of the sisters with Perrault syndrome previously described by <a href="#10" class="mim-tip-reference" title="McCarthy, D. J., Opitz, J. M. <strong>Perrault syndrome in sisters.</strong> Am. J. Med. Genet. 22: 629-631, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>] [<a href="https://doi.org/10.1002/ajmg.1320220324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061497">McCarthy and Opitz (1985)</a> and <a href="#3" class="mim-tip-reference" title="Fiumara, A., Sorge, G., Toscano, A., Parano, E., Pavone, L., Opitz, J. M. <strong>Perrault syndrome: evidence for progressive nervous system involvement.</strong> Am. J. Med. Genet. 128A: 246-249, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216544</a>] [<a href="https://doi.org/10.1002/ajmg.a.20616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15216544">Fiumara et al. (2004)</a> and identified 2 rare variants in the HSD17B4 gene (<a href="/entry/601860#0008">601860.0008</a> and <a href="/entry/601860#0009">601860.0009</a>). Sequencing revealed that both the proband and her affected sister were compound heterozygous for the missense and nonsense mutations, and that their unaffected mother was heterozygous for the missense mutation. Mutation in HSD17B4 had previously been found to cause an autosomal recessive disorder of peroxisomal fatty acid beta-oxidation that is generally fatal within the first 2 years of life (DBP deficiency; <a href="/entry/261515">261515</a>). <a href="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al. (2010)</a> stated that no females with DBP deficiency surviving past puberty had been reported, and ovarian dysgenesis had not previously been associated with that disorder. <a href="#16" class="mim-tip-reference" title="Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C. <strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong> Am. J. Hum. Genet. 87: 282-288, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20673864">Pierce et al. (2010)</a> concluded that Perrault syndrome and DBP deficiency overlap clinically, and that DBP deficiency may be underdiagnosed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4061497+20673864+15216544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers of European descent with Perrault syndrome, <a href="#11" class="mim-tip-reference" title="McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C. C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., FORGE Canada Consortium, Wanders, R. J. A., Majewski, J., Bulman, D. E., Geraghty, M. T., Ferdinandusse, S., Boycott, K. M. <strong>Specific combination of compound heterozygous mutations in 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.</strong> Orphanet J. Rare Dis. 7: 90, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23181892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23181892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23181892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/1750-1172-7-90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23181892">McMillan et al. (2012)</a> identified compound heterozygous mutations in the HSD17B4 gene (A34V, <a href="/entry/601860#0010">601860.0010</a> and I516T, <a href="/entry/601860#0011">601860.0011</a>). Each mutation affected a different domain, dehydrogenase and hydratase, respectively. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="#11" class="mim-tip-reference" title="McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C. C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., FORGE Canada Consortium, Wanders, R. J. A., Majewski, J., Bulman, D. E., Geraghty, M. T., Ferdinandusse, S., Boycott, K. M. <strong>Specific combination of compound heterozygous mutations in 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.</strong> Orphanet J. Rare Dis. 7: 90, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23181892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23181892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23181892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/1750-1172-7-90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23181892">McMillan et al. (2012)</a> postulated that the relatively mild phenotype was due to the fact that only 1 of the functional HSD17B4 domains was affected on each allele. There was reduced but detectable DBP hydratase and dehydrogenase activity, with some reduction of pristanic acid beta-oxidation in patient fibroblasts. The 45-kD DBP fragment was not detected by immunoblot analysis; however, peroxisomes and plasma very long-chain and branched fatty acids were normal. <a href="#11" class="mim-tip-reference" title="McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C. C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., FORGE Canada Consortium, Wanders, R. J. A., Majewski, J., Bulman, D. E., Geraghty, M. T., Ferdinandusse, S., Boycott, K. M. <strong>Specific combination of compound heterozygous mutations in 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.</strong> Orphanet J. Rare Dis. 7: 90, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23181892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23181892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23181892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/1750-1172-7-90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23181892">McMillan et al. (2012)</a> suggested the designation DBP deficiency type IV to refer to mutations affecting 2 different enzyme domains but associated with a relatively mild phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23181892" 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 3 Italian sibs with Perrault syndrome, <a href="#7" class="mim-tip-reference" title="Lines, M. A., Jobling, R., Brady, L., Marshall, C. R., Scherer, S. W., Rodriguez, A. R., Lee, L., Lang, A. E., Mestre, T. A., Wanders, R. J. A., Ferdinandusse, S., Tarnopolsky, M. A. <strong>Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.</strong> Neurology 82: 963-968, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24553428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24553428</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24553428">Lines et al. (2014)</a> identified compound heterozygous missense mutations in the HSD17B4 gene (P513L, <a href="/entry/601860#0012">601860.0012</a> and R543P, <a href="/entry/601860#0013">601860.0013</a>), both affecting the hydratase domain. The mutations were found by whole-exome sequencing and were shown by immunoblot analysis to result in a significant decrease in hydratase activity as well as in absence of the 45-kD posttranslational fragment containing the hydratase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24553428" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15216544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15216544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15216544" 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/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P" target="_blank">Full Text</a>]
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Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G.
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Lines, M. A., Jobling, R., Brady, L., Marshall, C. R., Scherer, S. W., Rodriguez, A. R., Lee, L., Lang, A. E., Mestre, T. A., Wanders, R. J. A., Ferdinandusse, S., Tarnopolsky, M. A.
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<strong>Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.</strong>
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Neurology 82: 963-968, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24553428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24553428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24553428" 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/10.1212/WNL.0000000000000219" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8030674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8030674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8030674" 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.1320510117" target="_blank">Full Text</a>]
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Marlin, S., Lacombe, D., Jonard, L., Leboulanger, N., Bonneau, D., Goizet, C., Billette de Villemeur, T., Cabrol, S., Houang, M., Moatti, L., Feldmann, D., Denoyelle, F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18241061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18241061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18241061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32180" target="_blank">Full Text</a>]
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McCarthy, D. J., Opitz, J. M.
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<strong>Perrault syndrome in sisters.</strong>
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Am. J. Med. Genet. 22: 629-631, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4061497" 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.1320220324" target="_blank">Full Text</a>]
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</p>
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<a id="11" class="mim-anchor"></a>
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<a id="McMillan2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C. C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., FORGE Canada Consortium, Wanders, R. J. A., Majewski, J., Bulman, D. E., Geraghty, M. T., Ferdinandusse, S., Boycott, K. M.
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<strong>Specific combination of compound heterozygous mutations in 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.</strong>
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Orphanet J. Rare Dis. 7: 90, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23181892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23181892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23181892[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=23181892" 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/10.1186/1750-1172-7-90" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Nishi1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nishi, Y., Hamamoto, K., Kajiyama, M., Kawamura, I.
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<strong>The Perrault syndrome: clinical report and review.</strong>
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Am. J. Med. Genet. 31: 623-629, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3067578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3067578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3067578" 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.1320310317" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Perez-Ballester1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perez-Ballester, B., Greenblatt, R. B., Byrd, J. R.
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<strong>Familial gonadal dysgenesis.</strong>
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Am. J. Obstet. Gynec. 107: 1262-1263, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5458581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5458581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5458581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0002-9378(15)30379-3" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Perrault1951" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perrault, M., Klotz, B., Housset, E.
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<strong>Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie.</strong>
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Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14821788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14821788</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14821788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Pierce2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pierce, S. B., Chisholm, K. M., Lynch, E. D., Lee, M. K., Walsh, T., Opitz, J. M., Li, W., Klevit, R. E., King, M.-C.
|
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<strong>Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.</strong>
|
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Proc. Nat. Acad. Sci. 108: 6543-6548, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21464306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21464306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21464306[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=21464306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1103471108" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Pierce2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C.
|
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<strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong>
|
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Am. J. Hum. Genet. 87: 282-288, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20673864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20673864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20673864[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=20673864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.07.007" target="_blank">Full Text</a>]
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<br />
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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 : 02/03/2022
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</span>
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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 : 07/10/2017<br>Cassandra L. Kniffin - updated : 6/4/2014<br>Marla J. F. O'Neill - updated : 7/10/2013<br>Cassandra L. Kniffin - updated : 11/14/2012<br>Marla J. F. O'Neill - updated : 2/24/2011<br>Marla J. F. O'Neill - updated : 4/10/2008<br>Marla J. F. O'Neill - updated : 9/29/2004
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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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<span class="text-nowrap mim-text-font">
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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 : 6/3/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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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alopez : 02/17/2025
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 02/08/2022<br>ckniffin : 02/03/2022<br>carol : 08/07/2018<br>carol : 07/10/2017<br>carol : 04/21/2017<br>carol : 03/27/2017<br>alopez : 12/16/2014<br>ckniffin : 12/16/2014<br>alopez : 6/16/2014<br>mcolton : 6/5/2014<br>ckniffin : 6/4/2014<br>carol : 10/22/2013<br>carol : 7/10/2013<br>alopez : 11/26/2012<br>alopez : 11/15/2012<br>ckniffin : 11/14/2012<br>carol : 12/15/2011<br>wwang : 2/25/2011<br>terry : 2/24/2011<br>wwang : 2/15/2011<br>carol : 6/5/2008<br>wwang : 4/10/2008<br>tkritzer : 9/29/2004<br>carol : 9/28/2004<br>tkritzer : 9/27/2004<br>mgross : 3/17/2004<br>terry : 6/11/1999<br>jason : 6/28/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 11/22/1988
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 233400
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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PERRAULT SYNDROME 1; PRLTS1
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<div>
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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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OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS<br />
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GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 93466004;
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<strong>ORPHA:</strong> 2855;
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<strong>DO:</strong> 0050857;
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</span>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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5q23.1
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</td>
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<td>
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<span class="mim-font">
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Perrault syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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233400
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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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Autosomal recessive
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</td>
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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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HSD17B4
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<span class="mim-font">
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601860
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Perrault syndrome-1 (PRLTS1) is caused by compound heterozygous mutation in the HSD17B4 gene (601860) on chromosome 5q23.</p>
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</span>
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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>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>Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by Pierce et al., 2010). Pierce et al. (2010) noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease. </p><p><strong><em>Genetic Heterogeneity of Perrault Syndrome</em></strong></p><p>
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|
See also PRLTS2 (614926), caused by mutation in the HARS2 gene (600783) on chromosome 5q31; PRLTS3 (614129), caused by mutation in the CLPP gene (601119) on chromosome 19p13; PRLTS4 (615300), caused by mutation in the LARS2 gene (604544) on chromosome 3p21; PRLTS5 (616138), caused by mutation in the TWNK gene (606075) on chromosome 10q24; PRLTS6 (617565), caused by mutation in the ERAL1 gene (607435) on chromosome 17q11; and PRLTS7 (621101), caused by mutation in the DAP3 gene (602074) on chromosome 1q22.</p><p>See COXPD54 (619737), which can manifest as Perrault syndrome.</p>
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<br />
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</div>
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<strong>Clinical Features</strong>
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<p>Perrault et al. (1951) described 2 sisters with a syndrome comprising sensorineural deafness and ovarian dysgenesis. The parents were cousins, suggesting autosomal recessive inheritance. Josso et al. (1963) restudied the sisters reported by Perrault et al. (1951) as adults and showed that both had a normal 46,XX karyotype. Both were deaf-mute and lacked ovaries on laparoscopy. Both sisters had castrate levels of gonadotropins. In addition, the older sister was obese and had a short neck. </p><p>McCarthy and Opitz (1985) described 2 sisters from Montana with Perrault syndrome. The girls were ages 15 and 4 years, respectively. Both had early-onset severe sensorineural deafness, and the older girl had delayed pubertal development with low urinary gonadotropin levels. The older sister also had neurologic abnormalities, including delayed motor development and mild spastic diplegia with weakness of the lower limbs, pes cavus, and contracted heel cords. She also had mild dysmorphic facial features. However, she had had a difficult birth, which may have contributed to the neurologic features. The younger sister did not have these extra anomalies. Fiumara et al. (2004) restudied the pair of sisters reported by McCarthy and Opitz (1985). The older sister was found to have electrophysiologic evidence of a peripheral axonal neuropathy as well as cerebellar hypoplasia. Her condition had progressed by her twenties, and she required a wheelchair. Other features included nystagmus on lateral gaze, dysarthria, mild titubation of the head, hyporeflexia, sensory neuropathy, and learning difficulties. The younger sister had also developed similar, but milder, neurologic signs. She had progressive weakness, pes cavus, axonal neuropathy, and ovarian failure with minimal pubertal development. Metabolic and mitochondrial testing were normal. In the sisters with Perrault syndrome and neurologic abnormalities reported by McCarthy and Opitz (1985) and Fiumara et al. (2004), Pierce et al. (2010) identified 2 mutations in the HSD17B4 gene (601860.0008 and 601860.0009). </p><p>Perez-Ballester et al. (1970) reported 2 sisters with primary amenorrhea, sexual infantilism, congenital nerve deafness, streak gonads, and 46,XX karyotype. The patients responded well to cyclic estrogen therapy. Bosze et al. (1983) reported affected sisters. In the family reported by Christakos et al. (1969), 2 out of 3 sisters with gonadal dysgenesis and a sexually normal brother had bilateral sensorineural hearing deficits. Two of the girls had mental retardation. The parents were second cousins, suggesting an autosomal recessive condition. </p><p>Nishi et al. (1988) described this disorder in 2 Japanese sisters. In addition to ovarian dysgenesis and sensorineural deafness, they had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. The authors' review of the literature included 21 patients from 8 families; 3 deaf males had no gonadal defect, and 1 woman with ovarian dysgenesis had no deafness. </p><p>Linssen et al. (1994) presented the cases of 2 brothers and a sister with sensorineural deafness. Ovarian dysgenesis in the sister suggested diagnosis of Perrault syndrome. In addition, the patients had a sensory polyneuropathy and amelogenesis imperfecta. Two had mild mental retardation, fine choreatic movements, and dyspraxia. Linssen et al. (1994) were uncertain as to whether the condition in this family represented a separate clinical entity or could be included within the range of variability of the Perrault syndrome. </p><p>Gottschalk et al. (1996) reported a brother and sister with sensorineural deafness; the sister also had ovarian dysgenesis, mental retardation, generalized ataxia of the trunk and limbs, and saccadic dysmetria. A CT scan showed cerebellar hypoplasia. The authors reviewed the 28 reported cases of Perrault syndrome; neurologic data were available for 14 of 21 females, 7 of whom had neurologic abnormalities. Gottschalk et al. (1996) suggested that ataxia or mental retardation may not be coincidental but rather pleiotropic manifestations of Perrault syndrome. </p><p>Fiumara et al. (2004) described 2 pairs of sisters, one pair originally reported by McCarthy and Opitz (1985) and the other a new pair born of first-cousin parents. Both pairs of sisters had sensorineural deafness, ovarian dysgenesis, short stature, and mild mental retardation. During their teen years, they all developed severe, progressive sensory and motor peripheral neuropathy. Fiumara et al. (2004) proposed that there are 2 forms of Perrault syndrome: an apparently nonprogressive form and another, exemplified by their patients and those described by McCarthy and Opitz (1985) and Nishi et al. (1988), with progressive axonal-cerebellar degeneration. </p><p>Marlin et al. (2008) reported 2 unrelated females and 2 sisters with sensorineural hearing impairment and ovarian dysgenesis; 1 of the sporadic cases also had mental retardation and neurologic abnormalities, with cerebellar ataxia, nystagmus, ophthalmoplegia, bilateral ptosis, and neuropathy. The authors reviewed the 34 cases from 15 families reported to date, noting that a hearing defect was present in 33 cases and that ovarian dysgenesis was reported in all female cases. Of 29 cases with a detailed clinical description, 11 (9 females and 2 males) had no neurologic abnormalities reported. Because all familial cases have involved sibs and 4 of the 15 families reported were consanguineous, Marlin et al. (2008) stated that transmission was probably autosomal recessive. </p><p>McMillan et al. (2012) reported 2 teenaged brothers of European descent with a neurodegenerative disorder. They both developed sensorineural hearing loss in early childhood, followed by onset of a sensorimotor peripheral neuropathy. The older brother was more severely impaired, developing ataxia, pes cavus, and hammertoes around age 11 years after normal motor development. Visual acuity was normal, but detailed studies suggested rod dysfunction and retinal atrophy, consistent with retinitis pigmentosa. Brain MRI showed prominent cerebellar atrophy. The disorder was progressive; at age 16.5 years, he required a wheelchair for long distances. Growth and puberty were normal. The younger brother had similar but milder features, except for mildly delayed puberty at age 14. Both patients had normal cognition. Laboratory studies in both patients showed normal very long-chain and branched fatty acids and normal bile acids, although there was some reduction of pristanic acid beta-oxidation in patient fibroblasts. </p><p>Lines et al. (2014) reported 3 Italian sibs, including 2 sisters, with Perrault syndrome. All presented with sensorineural hearing loss in mid-childhood, followed by ataxia and progressive cognitive decline from adolescence onward. Brain imaging showed severe cerebellar atrophy, and the patients showed dysarthria and nystagmus. Other features included a progressive peripheral neuropathy with hyporeflexia and diminished sensation, lower extremity spasticity and weakness, pes cavus, and some hyperkinesia. Electrophysiologic studies indicated a motor demyelinating polyneuropathy. One sister had primary amenorrhea and the other had secondary amenorrhea; both had increased FSH and LH and decreased estradiol. The brother had increased FSH and decreased testosterone. The brother had a more complicated phenotype with progressive infra- and supratentorial white matter lesions and oligoclonal bands in the CSF. He also had internuclear ophthalmoplegia and severe intellectual disability, and became wheelchair-bound in his early thirties. Additional laboratory studies of all patients showed increased serum total bile acids, but phytanic and very long-chain fatty acids were normal. Patient fibroblasts showed decreased beta-oxidation of pristanic acid. Peroxisome morphology was normal. </p>
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<strong>Heterogeneity</strong>
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<p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Pierce et al. (2010) found no mutations in the HSD17B4 gene in 6 families with hearing loss and ovarian dysgenesis, both with and without neurologic symptoms, thus demonstrating genetic heterogeneity of Perrault syndrome. </p><p>In 9 families with Perrault syndrome, Pierce et al. (2011) detected no mutations in the HSD17B or HARS2 genes, providing evidence for further genetic heterogeneity. </p><p>Jenkinson et al. (2012) excluded mutations in the HSD17B4 and HARS2 genes in 8 families with Perrault syndrome, providing further evidence for genetic heterogeneity. Their families included patients with hearing loss and ovarian dysgenesis only, as well as patients with additional variable neurologic defects, such as peripheral neuropathy, microcephaly, ataxia, and seizures. </p>
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<strong>Inheritance</strong>
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</span>
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<span class="mim-text-font">
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<p>The transmission pattern of Perrault syndrome in the family reported by Perrault et al. (1951) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Pierce et al. (2010) performed whole-exome sequencing of genomic DNA from 1 of the sisters with Perrault syndrome previously described by McCarthy and Opitz (1985) and Fiumara et al. (2004) and identified 2 rare variants in the HSD17B4 gene (601860.0008 and 601860.0009). Sequencing revealed that both the proband and her affected sister were compound heterozygous for the missense and nonsense mutations, and that their unaffected mother was heterozygous for the missense mutation. Mutation in HSD17B4 had previously been found to cause an autosomal recessive disorder of peroxisomal fatty acid beta-oxidation that is generally fatal within the first 2 years of life (DBP deficiency; 261515). Pierce et al. (2010) stated that no females with DBP deficiency surviving past puberty had been reported, and ovarian dysgenesis had not previously been associated with that disorder. Pierce et al. (2010) concluded that Perrault syndrome and DBP deficiency overlap clinically, and that DBP deficiency may be underdiagnosed. </p><p>In 2 brothers of European descent with Perrault syndrome, McMillan et al. (2012) identified compound heterozygous mutations in the HSD17B4 gene (A34V, 601860.0010 and I516T, 601860.0011). Each mutation affected a different domain, dehydrogenase and hydratase, respectively. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. McMillan et al. (2012) postulated that the relatively mild phenotype was due to the fact that only 1 of the functional HSD17B4 domains was affected on each allele. There was reduced but detectable DBP hydratase and dehydrogenase activity, with some reduction of pristanic acid beta-oxidation in patient fibroblasts. The 45-kD DBP fragment was not detected by immunoblot analysis; however, peroxisomes and plasma very long-chain and branched fatty acids were normal. McMillan et al. (2012) suggested the designation DBP deficiency type IV to refer to mutations affecting 2 different enzyme domains but associated with a relatively mild phenotype. </p><p>In 3 Italian sibs with Perrault syndrome, Lines et al. (2014) identified compound heterozygous missense mutations in the HSD17B4 gene (P513L, 601860.0012 and R543P, 601860.0013), both affecting the hydratase domain. The mutations were found by whole-exome sequencing and were shown by immunoblot analysis to result in a significant decrease in hydratase activity as well as in absence of the 45-kD posttranslational fragment containing the hydratase domain. </p>
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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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<p />
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</div>
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<div>
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<ol>
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Bosze, P., Skripeczky, K., Gaal, M., Toth, A., Laszlo, J.
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<strong>Perrault's syndrome in two sisters.</strong>
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Am. J. Med. Genet. 16: 237-241, 1983.
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<li>
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<p class="mim-text-font">
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Christakos, A. C., Simpson, J. L., Younger, J. B., Christian, C. D.
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<strong>Gonadal dysgenesis as an autosomal recessive condition.</strong>
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Am. J. Obstet. Gynec. 104: 1027-1030, 1969.
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Fiumara, A., Sorge, G., Toscano, A., Parano, E., Pavone, L., Opitz, J. M.
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Gottschalk, M. E., Coker, S. B., Fox, L. A.
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Am. J. Med. Genet. 65: 274-276, 1996.
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Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G.
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<p class="mim-text-font">
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Josso, N., de Grouchy, J., Frezal, J., Lamy, M.
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<strong>Le syndrome de Turner familial; etude de deux families avec caryotypes XO et XX.</strong>
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Ann. Pediat. 10: 163-167, 1963.
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[PubMed: 14122073]
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Lines, M. A., Jobling, R., Brady, L., Marshall, C. R., Scherer, S. W., Rodriguez, A. R., Lee, L., Lang, A. E., Mestre, T. A., Wanders, R. J. A., Ferdinandusse, S., Tarnopolsky, M. A.
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<strong>Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.</strong>
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Neurology 82: 963-968, 2014.
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<p class="mim-text-font">
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Linssen, W. H. J. P., Van den Bent, M. J., Brunner, H. G., Poels, P. J. E.
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<strong>Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?</strong>
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Am. J. Med. Genet. 51: 81-82, 1994.
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[PubMed: 8030674]
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[Full Text: https://doi.org/10.1002/ajmg.1320510117]
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Marlin, S., Lacombe, D., Jonard, L., Leboulanger, N., Bonneau, D., Goizet, C., Billette de Villemeur, T., Cabrol, S., Houang, M., Moatti, L., Feldmann, D., Denoyelle, F.
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<strong>Perrault syndrome: Report of four new cases, review and exclusion of candidate genes.</strong>
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Am. J. Med. Genet. 146A: 661-664, 2008.
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[PubMed: 18241061]
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[Full Text: https://doi.org/10.1002/ajmg.a.32180]
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</p>
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<p class="mim-text-font">
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McCarthy, D. J., Opitz, J. M.
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<strong>Perrault syndrome in sisters.</strong>
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Am. J. Med. Genet. 22: 629-631, 1985.
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[PubMed: 4061497]
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[Full Text: https://doi.org/10.1002/ajmg.1320220324]
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<p class="mim-text-font">
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McMillan, H. J., Worthylake, T., Schwartzentruber, J., Gottlieb, C. C., Lawrence, S. E., MacKenzie, A., Beaulieu, C. L., Mooyer, P. A. W., FORGE Canada Consortium, Wanders, R. J. A., Majewski, J., Bulman, D. E., Geraghty, M. T., Ferdinandusse, S., Boycott, K. M.
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<strong>Specific combination of compound heterozygous mutations in 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.</strong>
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Orphanet J. Rare Dis. 7: 90, 2012. Note: Electronic Article.
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[PubMed: 23181892]
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[Full Text: https://doi.org/10.1186/1750-1172-7-90]
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<p class="mim-text-font">
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Nishi, Y., Hamamoto, K., Kajiyama, M., Kawamura, I.
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<strong>The Perrault syndrome: clinical report and review.</strong>
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Am. J. Med. Genet. 31: 623-629, 1988.
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[PubMed: 3067578]
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[Full Text: https://doi.org/10.1002/ajmg.1320310317]
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</p>
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</li>
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<p class="mim-text-font">
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Perez-Ballester, B., Greenblatt, R. B., Byrd, J. R.
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<strong>Familial gonadal dysgenesis.</strong>
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Am. J. Obstet. Gynec. 107: 1262-1263, 1970.
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[PubMed: 5458581]
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[Full Text: https://doi.org/10.1016/s0002-9378(15)30379-3]
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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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Perrault, M., Klotz, B., Housset, E.
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<strong>Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie.</strong>
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Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951.
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[PubMed: 14821788]
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</p>
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<p class="mim-text-font">
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Pierce, S. B., Chisholm, K. M., Lynch, E. D., Lee, M. K., Walsh, T., Opitz, J. M., Li, W., Klevit, R. E., King, M.-C.
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<strong>Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.</strong>
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Proc. Nat. Acad. Sci. 108: 6543-6548, 2011.
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[PubMed: 21464306]
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[Full Text: https://doi.org/10.1073/pnas.1103471108]
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<p class="mim-text-font">
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Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M, K., Thornton, A. M., Fiumara, A., Opitz, J. M., Levy-Lahad, E., Klevit, R. E., King, M.-C.
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<strong>Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome.</strong>
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Am. J. Hum. Genet. 87: 282-288, 2010.
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[PubMed: 20673864]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.07.007]
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Contributors:
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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 : 02/03/2022<br>Marla J. F. O'Neill - updated : 07/10/2017<br>Cassandra L. Kniffin - updated : 6/4/2014<br>Marla J. F. O'Neill - updated : 7/10/2013<br>Cassandra L. Kniffin - updated : 11/14/2012<br>Marla J. F. O'Neill - updated : 2/24/2011<br>Marla J. F. O'Neill - updated : 4/10/2008<br>Marla J. F. O'Neill - updated : 9/29/2004
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