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<meta name="keywords" content="C0685838, congenital abnormality, disease or syndrome, gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance, gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance, gonadal dysgenesis xx type deafness, gonadal dysgenesis, xx type, with deafness, ovarian dysgenesis with sensorineural deafness, perrault syndrome, xx gonodal dysgenesis-deafness syndrome, xx gonodal dysgenesis-hearing loss syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=151934
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ConceptID=C0685838
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Perrault syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151934</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0685838</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (93466004); Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance (93466004); Perrault syndrome (93466004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/56652">TWNK</a>, <a target="_blank" href="/gene/26284">ERAL1</a>, <a target="_blank" href="/gene/23438">HARS2</a>, <a target="_blank" href="/gene/23395">LARS2</a>, <a target="_blank" href="/gene/8192">CLPP</a>, <a target="_blank" href="/gene/3295">HSD17B4</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017312" target="_blank">MONDO:0017312</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/233400" target="_blank">233400</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS233400" target="_blank">PS233400</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2855">ORPHA2855</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK242617" target="_blank">Perrault Syndrome</a></div><div>Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK242617#perrault.Summary" target="NBK242617">Summary</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Diagnosis" target="NBK242617">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Clinical_Characteristics" target="NBK242617">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Genetically_Related_Allelic_Dis" target="NBK242617">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Differential_Diagnosis" target="NBK242617">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Management" target="NBK242617">Management</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Genetic_Counseling" target="NBK242617">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Resources" target="NBK242617">Resources</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Molecular_Genetics" target="NBK242617">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.Chapter_Notes" target="NBK242617">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK242617#perrault.References" target="NBK242617">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
William G Newman | Thomas B Friedman | Gerard S Conway<i>, et. al.</i> <a href="/books/NBK242617" target="NBK242617" title="NCBI Bookshelf: Perrault Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.<br /><br />In Perrault syndrome, the problems with hearing are caused by changes in the inner ear, which is known as sensorineural hearing loss. The impairment usually affects both ears and can be present at birth or begin in early childhood. Unless hearing is completely impaired at birth, the hearing problems worsen over time.<br /><br />Neurological problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and loss of sensation and weakness in the limbs (peripheral neuropathy). However, not everyone with this condition has neurological problems.<br /><br />Females with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their menstrual periods begin in adolescence, but they become less frequent and eventually stop before age 40. Women with Perrault syndrome may have difficulty conceiving or be unable to have biological children (infertile). <a target="_blank" href="https://medlineplus.gov/genetics/condition/perrault-syndrome">https://medlineplus.gov/genetics/condition/perrault-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0685838[DISCUI]&test_type=Clinical" ref="ncbi_uid=151934">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=151934" target="_blank" href="/omim/233400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=151934">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=151934" ref="ncbi_uid=151934">V</a></span></span><span class="TLline">Perrault syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551721[DISCUI]&test_type=Clinical" ref="ncbi_uid=1640257">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640257" target="_blank" href="/omim/233400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=1640257">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1640257" ref="ncbi_uid=1640257">V</a></span></span><span class="TLline"><a href="/medgen/1640257" ref="tree=GTR&ncbi_uid=1640257&link_uid=1640257" title="View MedGen record for 'Perrault syndrome 1'">Perrault syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554105[DISCUI]&test_type=Clinical" ref="ncbi_uid=767019">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767019" target="_blank" href="/omim/600783">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=767019">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767019" ref="ncbi_uid=767019">V</a></span></span><span class="TLline"><a href="/medgen/767019" ref="tree=GTR&ncbi_uid=767019&link_uid=767019" title="View MedGen record for 'Perrault syndrome 2'">Perrault syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808414[DISCUI]&test_type=Clinical" ref="ncbi_uid=814744">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=814744" target="_blank" href="/omim/601119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=814744">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=814744" ref="ncbi_uid=814744">V</a></span></span><span class="TLline"><a href="/medgen/814744" ref="tree=GTR&ncbi_uid=814744&link_uid=814744" title="View MedGen record for 'Perrault syndrome 3'">Perrault syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809105[DISCUI]&test_type=Clinical" ref="ncbi_uid=815435">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815435" target="_blank" href="/omim/604544">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=815435">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815435" ref="ncbi_uid=815435">V</a></span></span><span class="TLline"><a href="/medgen/815435" ref="tree=GTR&ncbi_uid=815435&link_uid=815435" title="View MedGen record for 'Perrault syndrome 4'">Perrault syndrome 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015307[DISCUI]&test_type=Clinical" ref="ncbi_uid=863744">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863744" target="_blank" href="/omim/606075">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=863744">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863744" ref="ncbi_uid=863744">V</a></span></span><span class="TLline"><a href="/medgen/863744" ref="tree=GTR&ncbi_uid=863744&link_uid=863744" title="View MedGen record for 'Perrault syndrome 5'">Perrault syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4479656[DISCUI]&test_type=Clinical" ref="ncbi_uid=1391447">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1391447" target="_blank" href="/omim/607435">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK242617/" ref="ncbi_uid=1391447">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1391447" ref="ncbi_uid=1391447">V</a></span></span><span class="TLline"><a href="/medgen/1391447" ref="tree=GTR&ncbi_uid=1391447&link_uid=1391447" title="View MedGen record for 'Perrault syndrome 6'">Perrault syndrome 6</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842697" ref="tree=MeSH" title="MedGen record for Female infertility due to gonadal dysgenesis">Female infertility due to gonadal dysgenesis</a></span><ul><li><span class="matched_ds">Perrault syndrome</span><ul><li><span class="TLline"><a href="/medgen/1640257" ref="tree=MeSH" title="MedGen record for Perrault syndrome 1">Perrault syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/767019" ref="tree=MeSH" title="MedGen record for Perrault syndrome 2">Perrault syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/814744" ref="tree=MeSH" title="MedGen record for Perrault syndrome 3">Perrault syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/815435" ref="tree=MeSH" title="MedGen record for Perrault syndrome 4">Perrault syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/863744" ref="tree=MeSH" title="MedGen record for Perrault syndrome 5">Perrault syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1391447" ref="tree=MeSH" title="MedGen record for Perrault syndrome 6">Perrault syndrome 6</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2589&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Perrault syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32342250">Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Key J,
|
||
Maletzko A,
|
||
Kohli A,
|
||
Gispert S,
|
||
Torres-Odio S,
|
||
Wittig I,
|
||
Heidler J,
|
||
Bárcena C,
|
||
López-Otín C,
|
||
Lei Y,
|
||
West AP,
|
||
Münch C,
|
||
Auburger G</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2020 Jul;21(3):187-203.
|
||
Epub 2020 Apr 28
|
||
doi: 10.1007/s10048-020-00609-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32342250" target="_blank">32342250</a><a href="/pmc/articles/PMC7283203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30150665">Perrault syndrome type 3 caused by diverse molecular defects in CLPP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodie EJ,
|
||
Zhan H,
|
||
Saiyed T,
|
||
Truscott KN,
|
||
Dougan DA</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2018 Aug 27;8(1):12862.
|
||
doi: 10.1038/s41598-018-30311-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30150665" target="_blank">30150665</a><a href="/pmc/articles/PMC6110781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29205794">Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosaki R,
|
||
Horikawa R,
|
||
Fujii E,
|
||
Kosaki K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Feb;176(2):404-408.
|
||
Epub 2017 Dec 3
|
||
doi: 10.1002/ajmg.a.38552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29205794" target="_blank">29205794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25778941">Spectrum of combined respiratory chain defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayr JA,
|
||
Haack TB,
|
||
Freisinger P,
|
||
Karall D,
|
||
Makowski C,
|
||
Koch J,
|
||
Feichtinger RG,
|
||
Zimmermann FA,
|
||
Rolinski B,
|
||
Ahting U,
|
||
Meitinger T,
|
||
Prokisch H,
|
||
Sperl W</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Jul;38(4):629-40.
|
||
Epub 2015 Mar 17
|
||
doi: 10.1007/s10545-015-9831-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25778941" target="_blank">25778941</a><a href="/pmc/articles/PMC4493854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8826428">Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers CM,
|
||
Boughman JA,
|
||
Rivas M,
|
||
Wilroy RS,
|
||
Simpson JL</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1996 Jun 28;63(4):518-24.
|
||
doi: 10.1002/(SICI)1096-8628(19960628)63:4<518::AID-AJMG2>3.0.CO;2-K.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8826428" target="_blank">8826428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perrault%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38454547">Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faridi R,
|
||
Stratton P,
|
||
Salmeri N,
|
||
Morell RJ,
|
||
Khan AA,
|
||
Usmani MA,
|
||
Newman WG,
|
||
Riazuddin S,
|
||
Friedman TB</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 May;105(5):584-586.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1111/cge.14514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38454547" target="_blank">38454547</a><a href="/pmc/articles/PMC10990821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32423379">LARS2-Perrault syndrome: a new case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carminho-Rodrigues MT,
|
||
Klee P,
|
||
Laurent S,
|
||
Guipponi M,
|
||
Abramowicz M,
|
||
Cao-van H,
|
||
Guinand N,
|
||
Paoloni-Giacobino A</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 May 18;21(1):109.
|
||
doi: 10.1186/s12881-020-01028-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32423379" target="_blank">32423379</a><a href="/pmc/articles/PMC7236518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27650058">An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lerat J,
|
||
Jonard L,
|
||
Loundon N,
|
||
Christin-Maitre S,
|
||
Lacombe D,
|
||
Goizet C,
|
||
Rouzier C,
|
||
Van Maldergem L,
|
||
Gherbi S,
|
||
Garabedian EN,
|
||
Bonnefont JP,
|
||
Touraine P,
|
||
Mosnier I,
|
||
Munnich A,
|
||
Denoyelle F,
|
||
Marlin S</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Dec;37(12):1354-1362.
|
||
Epub 2016 Oct 7
|
||
doi: 10.1002/humu.23120.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27650058" target="_blank">27650058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25778941">Spectrum of combined respiratory chain defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayr JA,
|
||
Haack TB,
|
||
Freisinger P,
|
||
Karall D,
|
||
Makowski C,
|
||
Koch J,
|
||
Feichtinger RG,
|
||
Zimmermann FA,
|
||
Rolinski B,
|
||
Ahting U,
|
||
Meitinger T,
|
||
Prokisch H,
|
||
Sperl W</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Jul;38(4):629-40.
|
||
Epub 2015 Mar 17
|
||
doi: 10.1007/s10545-015-9831-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25778941" target="_blank">25778941</a><a href="/pmc/articles/PMC4493854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25424868">Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opitz JM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Dec;166C(4):387-96.
|
||
Epub 2014 Nov 25
|
||
doi: 10.1002/ajmg.c.31420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25424868" target="_blank">25424868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perrault%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39052101">Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Idyahia A,
|
||
Redouan S,
|
||
Amalou G,
|
||
Charoute H,
|
||
Harmak H,
|
||
Bonnet C,
|
||
Petit C,
|
||
Benrahma H,
|
||
Barakat A</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2024 Jul 25;51(1):850.
|
||
doi: 10.1007/s11033-024-09740-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39052101" target="_blank">39052101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38553020">Perrault syndrome: The Way Forward After Genetic Counselling?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapil I,
|
||
Anand R,
|
||
Padhi P</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2024 Mar 29;17(3)
|
||
doi: 10.1136/bcr-2023-258204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38553020" target="_blank">38553020</a><a href="/pmc/articles/PMC10982697" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28178980">Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ołdak M,
|
||
Oziębło D,
|
||
Pollak A,
|
||
Stępniak I,
|
||
Lazniewski M,
|
||
Lechowicz U,
|
||
Kochanek K,
|
||
Furmanek M,
|
||
Tacikowska G,
|
||
Plewczynski D,
|
||
Wolak T,
|
||
Płoski R,
|
||
Skarżyński H</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2017 Feb 8;15(1):25.
|
||
doi: 10.1186/s12967-017-1129-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28178980" target="_blank">28178980</a><a href="/pmc/articles/PMC5299684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25778941">Spectrum of combined respiratory chain defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayr JA,
|
||
Haack TB,
|
||
Freisinger P,
|
||
Karall D,
|
||
Makowski C,
|
||
Koch J,
|
||
Feichtinger RG,
|
||
Zimmermann FA,
|
||
Rolinski B,
|
||
Ahting U,
|
||
Meitinger T,
|
||
Prokisch H,
|
||
Sperl W</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Jul;38(4):629-40.
|
||
Epub 2015 Mar 17
|
||
doi: 10.1007/s10545-015-9831-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25778941" target="_blank">25778941</a><a href="/pmc/articles/PMC4493854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20673864">Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pierce SB,
|
||
Walsh T,
|
||
Chisholm KM,
|
||
Lee MK,
|
||
Thornton AM,
|
||
Fiumara A,
|
||
Opitz JM,
|
||
Levy-Lahad E,
|
||
Klevit RE,
|
||
King MC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 Aug 13;87(2):282-8.
|
||
Epub 2010 Jul 30
|
||
doi: 10.1016/j.ajhg.2010.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20673864" target="_blank">20673864</a><a href="/pmc/articles/PMC2917704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perrault%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39062730">Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Domínguez-Ruiz M,
|
||
Olarte M,
|
||
Onecha E,
|
||
García-Vaquero I,
|
||
Gelvez N,
|
||
López G,
|
||
Villamar M,
|
||
Morín M,
|
||
Moreno-Pelayo MA,
|
||
Morales-Angulo C,
|
||
Polo R,
|
||
Tamayo ML,
|
||
Del Castillo I</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Jul 19;15(7)
|
||
doi: 10.3390/genes15070951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39062730" target="_blank">39062730</a><a href="/pmc/articles/PMC11276111" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39052101">Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Idyahia A,
|
||
Redouan S,
|
||
Amalou G,
|
||
Charoute H,
|
||
Harmak H,
|
||
Bonnet C,
|
||
Petit C,
|
||
Benrahma H,
|
||
Barakat A</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2024 Jul 25;51(1):850.
|
||
doi: 10.1007/s11033-024-09740-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39052101" target="_blank">39052101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32399598">Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tucker EJ,
|
||
Rius R,
|
||
Jaillard S,
|
||
Bell K,
|
||
Lamont PJ,
|
||
Travessa A,
|
||
Dupont J,
|
||
Sampaio L,
|
||
Dulon J,
|
||
Vuillaumier-Barrot S,
|
||
Whalen S,
|
||
Isapof A,
|
||
Stojkovic T,
|
||
Quijano-Roy S,
|
||
Robevska G,
|
||
van den Bergen J,
|
||
Hanna C,
|
||
Simpson A,
|
||
Ayers K,
|
||
Thorburn DR,
|
||
Christodoulou J,
|
||
Touraine P,
|
||
Sinclair AH</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2020 Oct;139(10):1325-1343.
|
||
Epub 2020 May 12
|
||
doi: 10.1007/s00439-020-02176-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32399598" target="_blank">32399598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28178980">Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ołdak M,
|
||
Oziębło D,
|
||
Pollak A,
|
||
Stępniak I,
|
||
Lazniewski M,
|
||
Lechowicz U,
|
||
Kochanek K,
|
||
Furmanek M,
|
||
Tacikowska G,
|
||
Plewczynski D,
|
||
Wolak T,
|
||
Płoski R,
|
||
Skarżyński H</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2017 Feb 8;15(1):25.
|
||
doi: 10.1186/s12967-017-1129-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28178980" target="_blank">28178980</a><a href="/pmc/articles/PMC5299684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20673864">Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pierce SB,
|
||
Walsh T,
|
||
Chisholm KM,
|
||
Lee MK,
|
||
Thornton AM,
|
||
Fiumara A,
|
||
Opitz JM,
|
||
Levy-Lahad E,
|
||
Klevit RE,
|
||
King MC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 Aug 13;87(2):282-8.
|
||
Epub 2010 Jul 30
|
||
doi: 10.1016/j.ajhg.2010.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20673864" target="_blank">20673864</a><a href="/pmc/articles/PMC2917704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Perrault%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
|
||
</div>
|
||
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|
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0685838%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0685838%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0685838%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0685838%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0685838%5bDISCUI%5d" target="_blank">See all (21)</a></total></li>
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