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<title>
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Entry
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- #311360 - PREMATURE OVARIAN FAILURE 1; POF1
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- OMIM
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<span class="h4">#311360</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS311360"> <strong>Phenotypic Series</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="#cytogenetics">Cytogenetics</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=31734&Typ=Pat" title="Fragile X-associated primary ovarian insufficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Fragile X-associated prima… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=120&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Fragile X syndrome </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5929" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/fragile-x-associated-primary-ovarian-insufficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=642691" title="Fragile X-associated primary ovarian insufficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Fragile X-associated prima…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Fragile X syndrome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/311360" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1332509007, 237788002, 65846009<br />
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<strong>ICD10CM:</strong> E28.3<br />
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<strong>ORPHA:</strong> 642691, 908<br />
|
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<strong>DO:</strong> 0080857<br />
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">ICD+</a>
|
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
311360
|
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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|
|
PREMATURE OVARIAN FAILURE 1; POF1
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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>
|
|
<span class="mim-font">
|
|
<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">
|
|
PREMATURE OVARIAN FAILURE, X-LINKED; POFX<br />
|
|
HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED<br />
|
|
OVARIAN FAILURE, PREMATURE; POF<br />
|
|
PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED<br />
|
|
FRAGILE X PREMATURE OVARIAN FAILURE
|
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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>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/769?start=-3&limit=10&highlight=769">
|
|
Xq27.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Premature ovarian failure 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311360"> 311360 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FMR1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309550"> 309550 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/311360" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS311360" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/311360" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/311360" 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>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
<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> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cessation of menstruation before 40 years of age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478405</a>]</span><br /> -
|
|
Premature ovarian failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373717006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373717006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65846009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65846009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237788002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237788002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.319</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/256.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">256.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025322</a>, <a href="https://bioportal.bioontology.org/search?q=C0085215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
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|
|
|
|
|
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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">
|
|
|
|
- Premature ovarian failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373717006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373717006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65846009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65846009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237788002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237788002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.319</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/256.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">256.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025322</a>, <a href="https://bioportal.bioontology.org/search?q=C0085215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
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|
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|
|
|
|
|
|
|
|
|
<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 fragile X messenger ribonucleoprotein gene (FMR1, <a href="/entry/309550#0004">309550.0004</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>
|
|
Premature ovarian failure
|
|
- <a href="/phenotypicSeries/PS311360">PS311360</a>
|
|
- 29 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/1/729?start=-3&limit=10&highlight=729"> 1p31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619938"> Premature ovarian failure 20 </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/619938"> 619938 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602105"> MSH4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602105"> 602105 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/793?start=-3&limit=10&highlight=793"> 1p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615724"> Premature ovarian failure 9 </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/615724"> 615724 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615684"> HFM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615684"> 615684 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/339?start=-3&limit=10&highlight=339"> 2p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612310"> Premature ovarian failure 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/612310"> 612310 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608697"> FIGLA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608697"> 608697 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/723?start=-3&limit=10&highlight=723"> 3q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608996"> Premature ovarian failure 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/608996"> 608996 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605597"> FOXL2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605597"> 605597 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/957?start=-3&limit=10&highlight=957"> 3q28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620311"> Premature ovarian failure 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/620311"> 620311 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603273"> TP63 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603273"> 603273 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/458?start=-3&limit=10&highlight=458"> 5q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618014"> Premature ovarian failure 14 </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/618014"> 618014 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601918"> GDF9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601918"> 601918 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/58?start=-3&limit=10&highlight=58"> 6p24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620840"> Premature ovarian failure 24 </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/620840"> 620840 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616799"> SYCP2L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616799"> 616799 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/331?start=-3&limit=10&highlight=331"> 6p21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617442"> ?Premature ovarian failure 13 </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/617442"> 617442 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603382"> MSH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603382"> 603382 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/492?start=-3&limit=10&highlight=492"> 7q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615723"> Premature ovarian failure 8 </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/615723"> 615723 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608489"> STAG3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608489"> 608489 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/783?start=-3&limit=10&highlight=783"> 7q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611548"> Premature ovarian failure 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/611548"> 611548 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610934"> NOBOX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610934"> 610934 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/844?start=-3&limit=10&highlight=844"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619146"> ?Premature ovarian failure 17 </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/619146"> 619146 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600375"> XRCC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600375"> 600375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/489?start=-3&limit=10&highlight=489"> 9q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612964"> Adrenocortical insufficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/612964"> 612964 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184757"> NR5A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184757"> 184757 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/489?start=-3&limit=10&highlight=489"> 9q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612964"> Premature ovarian failure 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/612964"> 612964 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184757"> NR5A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184757"> 184757 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/190?start=-3&limit=10&highlight=190"> 10q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616946"> Premature ovarian failure 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
|
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<a href="/entry/616946"> 616946 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/609413"> ERCC6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/609413"> 609413 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/684?start=-3&limit=10&highlight=684"> 10q26.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/616947"> ?Premature ovarian failure 12 </a>
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</span>
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|
</td>
|
|
<td>
|
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<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/616947"> 616947 </a>
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</span>
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611486"> SYCE1 </a>
|
|
</span>
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</td>
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|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/611486"> 611486 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
|
|
<a href="/geneMap/14/200?start=-3&limit=10&highlight=200"> 14q21.2 </a>
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|
|
|
</span>
|
|
</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618096"> Premature ovarian failure 15 </a>
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|
</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/618096"> 618096 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609644"> FANCM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609644"> 609644 </a>
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|
</span>
|
|
</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/285?start=-3&limit=10&highlight=285"> 14q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619203"> ?Premature ovarian failure 18 </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/619203"> 619203 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617307"> C14orf39 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617307"> 617307 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/124?start=-3&limit=10&highlight=124"> 15q15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/621065"> Premature ovarian failure 26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/621065"> 621065 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616061"> MGA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616061"> 616061 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/463?start=-3&limit=10&highlight=463"> 15q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618723"> ?Premature ovarian failure 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/618723"> 618723 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601930"> BNC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601930"> 601930 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/79?start=-3&limit=10&highlight=79"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620686"> Premature ovarian failure 23 </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/620686"> 620686 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617670"> MEIOB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617670"> 617670 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/57?start=-3&limit=10&highlight=57"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/621002"> Premature ovarian failure 25 </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/621002"> 621002 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617673"> SPATA22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617673"> 617673 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/941?start=-3&limit=10&highlight=941"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620548"> Premature ovarian failure 22 </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/620548"> 620548 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618125"> KASH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618125"> 618125 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/85?start=-3&limit=10&highlight=85"> 20p12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612885"> ?Premature ovarian failure 10 </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/612885"> 612885 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608187"> MCM8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608187"> 608187 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/146?start=-3&limit=10&highlight=146"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619245"> Premature ovarian failure 19 </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/619245"> 619245 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604554"> HSF2BP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604554"> 604554 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/303?start=-3&limit=10&highlight=303"> Xp11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300510"> Premature ovarian failure 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300510"> 300510 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300247"> BMP15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300247"> 300247 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/303?start=-3&limit=10&highlight=303"> Xp11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300510"> Ovarian dysgenesis 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300510"> 300510 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300247"> BMP15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300247"> 300247 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/472?start=-3&limit=10&highlight=472"> Xq21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300604"> ?Premature ovarian failure 2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300604"> 300604 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300603"> FLJ22792 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because of evidence that premature ovarian failure-1 (POF1) is associated with premutations in the FMR1 gene (<a href="/entry/309550">309550</a>) on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).</p>
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<p>Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, <a href="/entry/233300">233300</a>) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (<a href="#7" class="mim-tip-reference" title="Coulam, C. B. <strong>Premature gonadal failure.</strong> Fertil. Steril. 38: 645-655, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7141005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7141005</a>] [<a href="https://doi.org/10.1016/s0015-0282(16)46688-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7141005">Coulam, 1982</a>). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (<a href="#3" class="mim-tip-reference" title="Bione, S., Sala, C., Manzini, C., Arrigo, G., Zuffardi, O., Banfi, S., Borsani, G., Jonveaux, P., Philippe, C., Zuccotti, M., Ballabio, A., Toniolo, D. <strong>A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.</strong> Am. J. Hum. Genet. 62: 533-541, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497258</a>] [<a href="https://doi.org/10.1086/301761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9497258">Bione et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7141005+9497258" 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="#27" class="mim-tip-reference" title="Qin, Y., Jiao, X., Simpson, J. L., Chen, Z.-J. <strong>Genetics of primary ovarian insufficiency: new developments and opportunities.</strong> Hum. Reprod. Update 21: 787-808, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26243799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26243799</a>] [<a href="https://doi.org/10.1093/humupd/dmv036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26243799">Qin et al. (2015)</a> reviewed the genetics of primary ovarian insufficiency (POI), also known as POF. They noted that causative genes had been identified in only 20 to 25% of POI cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26243799" 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="#30" class="mim-tip-reference" title="Rossetti, R., Ferrari, I., Bonomi, M., Persani, L. <strong>Genetics of primary ovarian insufficiency.</strong> Clin. Genet. 91: 183-198, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861765</a>] [<a href="https://doi.org/10.1111/cge.12921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27861765">Rossetti et al. (2017)</a> reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27861765" 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 Premature Ovarian Failure</em></strong>
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<div class="mim-changed mim-change"><p>Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (<a href="/entry/300511">300511</a>) by mutation in the DIAPH2 gene (<a href="/entry/300108">300108</a>) and POF2B (<a href="/entry/300604">300604</a>) by mutation in the POF1B gene (<a href="/entry/300603">300603</a>). See also POF3 (<a href="/entry/608996">608996</a>), caused by mutation in the FOXL2 gene (<a href="/entry/605597">605597</a>) on chromosome 3q22; POF4 (see <a href="/entry/300510">300510</a>), caused by mutation in the BMP15 gene (<a href="/entry/300247">300247</a>) on chromosome Xp11; POF5 (<a href="/entry/611548">611548</a>), caused by mutation in the NOBOX gene (<a href="/entry/610934">610934</a>) on chromosome 7q35; POF6 (<a href="/entry/612310">612310</a>), caused by mutation in the FIGLA gene (<a href="/entry/608697">608697</a>) on chromosome 2p13; POF7 (<a href="/entry/612964">612964</a>), caused by mutation in the NR5A1 gene (<a href="/entry/184757">184757</a>) on chromosome 9q33; POF8 (<a href="/entry/615723">615723</a>), caused by mutation in the STAG3 gene (<a href="/entry/608489">608489</a>) on chromosome 7q22; POF9 (<a href="/entry/615724">615724</a>), caused by mutation in the HFM1 gene (<a href="/entry/615684">615684</a>) on chromosome 1p22; POF10 (<a href="/entry/612885">612885</a>), caused by mutation in the MCM8 gene (<a href="/entry/608187">608187</a>) on chromosome 20p12; POF11 (<a href="/entry/616946">616946</a>), caused by mutation in the ERCC6 gene (<a href="/entry/609413">609413</a>) on chromosome 10q11; POF12 (<a href="/entry/616947">616947</a>), caused by mutation in the SYCE1 gene (<a href="/entry/611486">611486</a>) on chromosome 10q26; POF13 (<a href="/entry/617442">617442</a>), caused by mutation in the MSH5 gene (<a href="/entry/603382">603382</a>) on chromosome 6p21; POF14 (<a href="/entry/618014">618014</a>), caused by mutation in the GDF9 gene (<a href="/entry/601918">601918</a>) on chromosome 5q31; POF15 (<a href="/entry/618096">618096</a>), caused by mutation in the FANCM gene (<a href="/entry/609644">609644</a>) on chromosome 14q21; POF16 (<a href="/entry/618723">618723</a>), caused by mutation in the BNC1 gene (<a href="/entry/601930">601930</a>) on chromosome 15q25; POF17 (<a href="/entry/619146">619146</a>), caused by mutation in the XRCC2 gene (<a href="/entry/600375">600375</a>) on chromosome 7q36; POF18 (<a href="/entry/619203">619203</a>), caused by mutation in the C14ORF39 gene (<a href="/entry/617307">617307</a>) on chromosome 14q23; POF19 (<a href="/entry/619245">619245</a>), caused by mutation in the HSF2BP gene (<a href="/entry/604554">604554</a>) on chromosome 21q22; POF20 (<a href="/entry/609938">609938</a>), caused by mutation in the MSH4 gene (<a href="/entry/602105">602105</a>) on chromosome 1p31; POF21 (<a href="/entry/620311">620311</a>), caused by mutation in the TP63 gene (<a href="/entry/603273">603273</a>) on chromosome 3q28; POF22 (<a href="/entry/620548">620548</a>), caused by mutation in the KASH5 gene (<a href="/entry/618125">618125</a>) on chromosome 19q13; POF23 (<a href="/entry/620686">620686</a>), caused by mutation in the MEIOB gene (<a href="/entry/617670">617670</a>) on chromosome 16p13; POF24 (<a href="/entry/620840">620840</a>), caused by mutation in the SYCP2L gene (<a href="/entry/616799">616799</a>) on chromosome 6p24; POF25 (<a href="/entry/621002">621002</a>), caused by mutation in the SPATA22 gene (<a href="/entry/617673">617673</a>) on chromosome 17p13; and POF26 (<a href="/entry/621065">621065</a>), caused by mutation in the MGA gene (<a href="/entry/616061">616061</a>) on chromosome 15q15.</p></div>
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<p>In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, <a href="#4" class="mim-tip-reference" title="Bouilly, J., Beau, I., Barraud, S., Bernard, V., Azibi, K., Fagart, J., Fevre, A., Todeschini, A. L., Veitia, R. A., Beldjord, C., Delemer, B., Dode, C., Young, J., Binart, N. <strong>Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency.</strong> J. Clin. Endocr. Metab. 101: 4541-4550, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27603904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27603904</a>] [<a href="https://doi.org/10.1210/jc.2016-2152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27603904">Bouilly et al. (2016)</a> screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. <a href="#4" class="mim-tip-reference" title="Bouilly, J., Beau, I., Barraud, S., Bernard, V., Azibi, K., Fagart, J., Fevre, A., Todeschini, A. L., Veitia, R. A., Beldjord, C., Delemer, B., Dode, C., Young, J., Binart, N. <strong>Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency.</strong> J. Clin. Endocr. Metab. 101: 4541-4550, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27603904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27603904</a>] [<a href="https://doi.org/10.1210/jc.2016-2152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27603904">Bouilly et al. (2016)</a> suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27603904" 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>Although the average age of menarche decreased during the 20th century, the mean age of menopause appears to be invariant with time and race and occurs at approximately 50 years. Premature ovarian failure can be defined as secondary amenorrhea with elevated gonadotropins occurring before age 40. Depletion of ova is usually the basis although an ovary no longer sensitive to gonadotropins can masquerade as true failure (<a href="#14" class="mim-tip-reference" title="Jones, G. S., De Moraes-Ruehsen, M. <strong>A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus.</strong> Am. J. Obstet. Gynec. 104: 597-601, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5786709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5786709</a>] [<a href="https://doi.org/10.1016/s0002-9378(16)34255-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5786709">Jones and De Moraes-Ruehsen, 1969</a>; <a href="#22" class="mim-tip-reference" title="Maxson, W. S., Wentz, A. C. <strong>The gonadotropin resistant ovary syndrome.</strong> Semin. Reprod. Endocr. 1: 147-160, 1983."None>Maxson and Wentz, 1983</a>). Premature ovarian failure is usually idiopathic but occasionally can be due to a genetic disorder that is associated with rapid atresia of follicles, such as Turner variants (<a href="#11" class="mim-tip-reference" title="Fitch, N., De Saint Victor, J., Richer, C.-L., Pinsky, L., Sitahal, S. <strong>Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review.</strong> Am. J. Obstet. Gynec. 142: 968-972, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7041651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7041651</a>] [<a href="https://doi.org/10.1016/0002-9378(82)90776-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7041651">Fitch et al., 1982</a>), or with formation of a small number of follicles, as in galactosemia (<a href="/entry/230400">230400</a>) (<a href="#15" class="mim-tip-reference" title="Kaufman, F. R., Kogut, M. D., Donnell, G. N., Goebelsmann, U., March, C., Koch, R. <strong>Hypergonadotropic hypogonadism in female patients with galactosemia.</strong> New Eng. J. Med. 304: 994-998, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782485</a>] [<a href="https://doi.org/10.1056/NEJM198104233041702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6782485">Kaufman et al., 1981</a>). Destruction of germ cells in pre- or postpubertal stages by viral infections, drugs (cigarette smoking, antitumor drugs), or radiation can also be responsible. Autoimmunity appears to be the basis of POF in patients with antiovarian antibodies, in Addison disease (<a href="/entry/240200">240200</a>) and in myasthenia gravis (<a href="/entry/254200">254200</a>). The role of familial factors was suggested by <a href="#9" class="mim-tip-reference" title="de Moraes-Ruehsen, M., Jones, G. S. <strong>Premature ovarian failure.</strong> Fertil. Steril. 18: 440-461, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6028784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6028784</a>] [<a href="https://doi.org/10.1016/s0015-0282(16)36362-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6028784">de Moraes-Ruehsen and Jones (1967)</a> and by <a href="#36" class="mim-tip-reference" title="Smith, A., Fraser, I. S., Noel, M. <strong>Three siblings with premature gonadal failure.</strong> Fertil. Steril. 32: 528-530, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/499583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">499583</a>] [<a href="https://doi.org/10.1016/s0015-0282(16)44353-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="499583">Smith et al. (1979)</a>. On the basis of 5 kindreds, <a href="#21" class="mim-tip-reference" title="Mattison, D. R., Evans, M. I., Schwimmer, W. B., White, B. J., Jensen, B., Schulman, J. D. <strong>Familial premature ovarian failure.</strong> Am. J. Hum. Genet. 36: 1341-1348, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517055</a>]" pmid="6517055">Mattison et al. (1984)</a> proposed that POF can be a mendelian disorder, inherited either paternally or maternally, as an autosomal or X-linked dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7041651+6782485+6517055+499583+5786709+6028784" 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="#37" class="mim-tip-reference" title="Smith, J. A., Vitale, S., Reed, G. F., Grieshaber, S. A., Goodman, L. A., Vanderhoof, V. H., Calis, K. A., Nelson, L. M. <strong>Dry eye signs and symptoms in women with premature ovarian failure.</strong> Arch. Ophthal. 122: 151-156, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14769589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14769589</a>] [<a href="https://doi.org/10.1001/archopht.122.2.151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14769589">Smith et al. (2004)</a> studied 65 patients with POF and 36 age-matched healthy controls. They found that women with POF were more likely to exhibit ocular surface damage and symptoms of dry eye than age-matched controls, but were not more likely to have reduced tear production. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14769589" 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="Eggermann, T., Meschede, D., Schuler, H., Palm, S., Glaser, D., Horsthemke, B., Eggermann, K., Haverkamp, F., Zerres, K. <strong>Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. (Letter)</strong> Clin. Genet. 67: 434-437, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811012</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00427.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15811012">Eggermann et al. (2005)</a> described a 33-year-old German woman with POF and her mother, who both showed mild Turner stigmata including a low-set hairline, moderately high-arched palate, short and mildly webbed neck, and hypoplastic and/or upturned fingernails and toenails. The daughter also had sparse hair and an asymmetric right hypoplastic breast. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15811012" 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="#17" class="mim-tip-reference" title="Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G., Page, D. C. <strong>Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome.</strong> New Eng. J. Med. 317: 125-131, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600701</a>] [<a href="https://doi.org/10.1056/NEJM198707163170301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3600701">Krauss et al. (1987)</a> described a family in which 4 and perhaps 5 women in 3 generations had menstrual irregularities. Four of the 5 were demonstrated to have a partial deletion of the long arm of the X chromosome: 46,XX,del(X)(pter-q21.3::q27-qter). Ovarian function ceased prematurely with demonstrated estrogen deficiency and elevation of serum gonadotropin levels before the age of 40. In 3 of the 4 women, ovarian failure occurred at ages 24 to 37 years. Similar familial premature ovarian failure was reported by <a href="#6" class="mim-tip-reference" title="Coulam, C. B., Stringfellow, S., Hoefnagel, D. <strong>Evidence for a genetic factor in the etiology of premature ovarian failure.</strong> Fertil. Steril. 40: 693-695, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6628716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6628716</a>] [<a href="https://doi.org/10.1016/s0015-0282(16)47433-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6628716">Coulam et al. (1983)</a> and by <a href="#21" class="mim-tip-reference" title="Mattison, D. R., Evans, M. I., Schwimmer, W. B., White, B. J., Jensen, B., Schulman, J. D. <strong>Familial premature ovarian failure.</strong> Am. J. Hum. Genet. 36: 1341-1348, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517055</a>]" pmid="6517055">Mattison et al. (1984)</a>. Premature menopause due to a small deletion in the long arm of the X chromosome was described by <a href="#11" class="mim-tip-reference" title="Fitch, N., De Saint Victor, J., Richer, C.-L., Pinsky, L., Sitahal, S. <strong>Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review.</strong> Am. J. Obstet. Gynec. 142: 968-972, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7041651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7041651</a>] [<a href="https://doi.org/10.1016/0002-9378(82)90776-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7041651">Fitch et al. (1982)</a>. <a href="#35" class="mim-tip-reference" title="Skibsted, L., Westh, H., Niebuhr, E. <strong>X long-arm deletions: a review of non-mosaic cases studied with banding techniques.</strong> Hum. Genet. 67: 1-5, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6745919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6745919</a>] [<a href="https://doi.org/10.1007/BF00270550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6745919">Skibsted et al. (1984)</a> suggested that the 'critical region' essential for normal ovarian function is Xq26-q28. The observations of <a href="#17" class="mim-tip-reference" title="Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G., Page, D. C. <strong>Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome.</strong> New Eng. J. Med. 317: 125-131, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600701</a>] [<a href="https://doi.org/10.1056/NEJM198707163170301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3600701">Krauss et al. (1987)</a> may indicate the presence in this region of a gene essential to ovarian function which in some nondeletion cases may be mutant, leading to the same clinical picture of premature ovarian failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3600701+7041651+6628716+6745919+6517055" 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 sisters with POF, previously reported by <a href="#11" class="mim-tip-reference" title="Fitch, N., De Saint Victor, J., Richer, C.-L., Pinsky, L., Sitahal, S. <strong>Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review.</strong> Am. J. Obstet. Gynec. 142: 968-972, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7041651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7041651</a>] [<a href="https://doi.org/10.1016/0002-9378(82)90776-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7041651">Fitch et al. (1982)</a>, <a href="#32" class="mim-tip-reference" title="Schwartz, C., Fitch, N., Phelan, M. C., Richer, C.-L., Stevenson, R. <strong>Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.</strong> Hum. Genet. 76: 54-57, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3471705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3471705</a>] [<a href="https://doi.org/10.1007/BF00283050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3471705">Schwartz et al. (1987)</a> used polymorphic DNA probes to define further the small deletion of the long arm of 1 of their X chromosomes. The deleted chromosome retained the factor IX locus (F9; <a href="/entry/300746">300746</a>) and 2 loci proximal to F9, but the factor VIII locus (F8; <a href="/entry/300841">300841</a>) and 2 loci tightly linked to it were not present. BrdU incorporation confirmed that the deleted chromosome was always the inactive one. <a href="#32" class="mim-tip-reference" title="Schwartz, C., Fitch, N., Phelan, M. C., Richer, C.-L., Stevenson, R. <strong>Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.</strong> Hum. Genet. 76: 54-57, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3471705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3471705</a>] [<a href="https://doi.org/10.1007/BF00283050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3471705">Schwartz et al. (1987)</a> designated the patients' deletion del(X)(pter-q26.3:). One sister had entered menopause at age 21; the other, who had 1 child, had very irregular menstrual periods before age 40. Their mother, who was deceased, was said to have had onset of menopause at age 35. The women were of normal intelligence and in good health; none had stigmata of the Turner syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7041651+3471705" 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>To establish the prevalence of X chromosome deletions in women with premature ovarian failure, <a href="#8" class="mim-tip-reference" title="Davison, R. M., Quilter, C. R., Webb, J., Murray, A., Fisher, A. M., Valentine, A., Serhal, P., Conway, G. S. <strong>A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure.</strong> Hum. Reprod. 13: 3039-3041, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9853851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9853851</a>] [<a href="https://doi.org/10.1093/humrep/13.11.3039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9853851">Davison et al. (1998)</a> performed cytogenetic analyses on 79 women with primary or secondary amenorrhea. A normal karyotype was found in 77 women. One woman with primary amenorrhea had an XY karyotype and a woman with secondary amenorrhea had a deletion at Xq26.1. This second woman had a family history of premature ovarian failure; her mother, who underwent premature ovarian failure at 28 years, shared the deletion. The early diagnosis of familial X deletions causing POF allowed for the prediction of impending menopause and the implementation of maneuvers to advance conception. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9853851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Marozzi, A., Manfredini, E., Tibiletti, M. G., Furlan, D., Villa, N., Vegetti, W., Crosignani, P. G., Ginelli, E., Meneveri, R., Dalpra, L. <strong>Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.</strong> Hum. Genet. 107: 304-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11129329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11129329</a>] [<a href="https://doi.org/10.1007/s004390000364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11129329">Marozzi et al. (2000)</a> performed high-resolution cytogenetic analysis of a large number of women with POF and identified 6 patients carrying different Xq chromosome rearrangements. The patients (1 familial and 5 sporadic cases) were negative for Turner stigmata and experienced a variable onset of menopause. All of the patients had an Xq deletion as the common chromosome abnormality, which was the only event in 3 patients and was associated with partial Xp or 9p trisomies in the remaining 3. Two of these, carrying X;X and X;9 unbalanced translocations, respectively, showed terminal deletions with the breakpoint at Xq22 within the DIAPH2 gene (<a href="/entry/300108">300108</a>). <a href="#20" class="mim-tip-reference" title="Marozzi, A., Manfredini, E., Tibiletti, M. G., Furlan, D., Villa, N., Vegetti, W., Crosignani, P. G., Ginelli, E., Meneveri, R., Dalpra, L. <strong>Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.</strong> Hum. Genet. 107: 304-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11129329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11129329</a>] [<a href="https://doi.org/10.1007/s004390000364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11129329">Marozzi et al. (2000)</a> concluded that the restricted Xq region involved in the POF phenotype extends from approximately Xq26.2 to Xq28 and covers approximately 22 Mb of DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11129329" 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 sisters with POF and their mother, originally described by <a href="#19" class="mim-tip-reference" title="Maraschio, P. Tupler, R., Barbierato, L., Dainotti, E., Larizza, D., Bernardi, F., Hoeller, H., Garau, A., Tiepolo, L. <strong>An analysis of Xq deletions.</strong> Hum. Genet. 97: 375-381, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786087</a>] [<a href="https://doi.org/10.1007/BF02185777" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786087">Maraschio et al. (1996)</a>, <a href="#29" class="mim-tip-reference" title="Rossetti, F., Rizzolio, F., Pramparo, T., Sala, C., Bione, S., Bernardi, F., Goegan, M., Zuffardi, O., Toniolo, D. <strong>A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.</strong> Europ. J. Hum. Genet. 12: 829-834, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15280899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15280899</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15280899">Rossetti et al. (2004)</a> reported the fine mapping of an interstitial deletion of the X chromosome. The 2 daughters had secondary amenorrhea at 17 and 22 years of age, respectively, whereas their mother was fertile, had 4 children, and underwent premature menopause at 43 years of age. The proximal breakpoint was mapped to Xq27.3 and the distal breakpoint was localized within the OPN (see <a href="/entry/300821">300821</a>)/CXORF2 (see <a href="/entry/300092">300092</a>) gene cluster on Xq28. <a href="#29" class="mim-tip-reference" title="Rossetti, F., Rizzolio, F., Pramparo, T., Sala, C., Bione, S., Bernardi, F., Goegan, M., Zuffardi, O., Toniolo, D. <strong>A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.</strong> Europ. J. Hum. Genet. 12: 829-834, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15280899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15280899</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15280899">Rossetti et al. (2004)</a> compared the deletion in these 3 women with that in a family identified from a male proband with X-linked mental retardation in which the mother had undergone menopause at age 47 years (<a href="#41" class="mim-tip-reference" title="Wolff, D. J., Gustashaw, K. M., Zurcher, V., Ko, L., White, W., Weiss, L., Van Dyke, D. L., Schwartz, S., Willard, H. F. <strong>Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.</strong> Hum. Genet. 100: 256-262, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254860</a>] [<a href="https://doi.org/10.1007/s004390050501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9254860">Wolff et al., 1997</a>), indicating that the deletion in the second family did not include a gene for POF. The 2 deletions were found to partly overlap in their proximal region, thus reducing the POF susceptibility region to a 4.5-Mb interval between the iduronate 2-sulfatase gene (IDS; <a href="/entry/300823">300823</a>) and the OPN gene cluster. Because the deletion breakpoints were identical in the 3 women, <a href="#29" class="mim-tip-reference" title="Rossetti, F., Rizzolio, F., Pramparo, T., Sala, C., Bione, S., Bernardi, F., Goegan, M., Zuffardi, O., Toniolo, D. <strong>A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.</strong> Europ. J. Hum. Genet. 12: 829-834, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15280899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15280899</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15280899">Rossetti et al. (2004)</a> concluded that the phenotypic differences in this family must have been due to other genetic or environmental factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9254860+8786087+15280899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 33-year-old German woman with POF and her mother, <a href="#10" class="mim-tip-reference" title="Eggermann, T., Meschede, D., Schuler, H., Palm, S., Glaser, D., Horsthemke, B., Eggermann, K., Haverkamp, F., Zerres, K. <strong>Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. (Letter)</strong> Clin. Genet. 67: 434-437, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15811012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15811012</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00427.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15811012">Eggermann et al. (2005)</a> identified a small terminal Xq deletion; typing of microsatellite markers narrowed the deletion to a 10.5-Mb region, Xq27.2/Xq27.3-q28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15811012" 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>Findings derived from investigation of X/autosome balanced translocations and Xq terminal deletions allowed identification of 2 independent regions within the Xq arm that seemed to be involved in ovarian function (<a href="#20" class="mim-tip-reference" title="Marozzi, A., Manfredini, E., Tibiletti, M. G., Furlan, D., Villa, N., Vegetti, W., Crosignani, P. G., Ginelli, E., Meneveri, R., Dalpra, L. <strong>Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.</strong> Hum. Genet. 107: 304-311, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11129329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11129329</a>] [<a href="https://doi.org/10.1007/s004390000364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11129329">Marozzi et al., 2000</a>). These regions are located at Xq26-q28 (<a href="#39" class="mim-tip-reference" title="Tharapel, A. T., Anderson, K. P., Simpson, J. L., Martens, P. R., Wilroy, R. S., Jr., Llerena, J. C., Jr., Schwartz, C. E. <strong>Deletion (X)(q26.1-q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.</strong> Am. J. Hum. Genet. 52: 463-471, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8095365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8095365</a>]" pmid="8095365">Tharapel et al., 1993</a>) and Xq13.3-q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8095365+11129329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Schlessinger, D., Herrera, L., Crisponi, L., Mumm, S., Percesepe, A., Pellegrini, M., Pilia, G., Forabosco, A. <strong>Genes and translocations involved in POF.</strong> Am. J. Med. Genet. 111: 328-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210333</a>] [<a href="https://doi.org/10.1002/ajmg.10565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210333">Schlessinger et al. (2002)</a> reviewed genes and translocations involved in POF. Sporadic X;autosomal translocations showed breakpoints distributed at many points on the X chromosome, but concentrated in a critical region on Xq. They suggested that many of the translocations, like X monosomy (Turner syndrome), lead to POF not by interrupting specific genes important in ovarian development, but by causing aberrations in pairing or X inactivation during folliculogenesis. The authors noted that the critical region has unusual features, neighboring the X-inactivation center and including an 18-Mb region of very low recombination. <a href="#31" class="mim-tip-reference" title="Schlessinger, D., Herrera, L., Crisponi, L., Mumm, S., Percesepe, A., Pellegrini, M., Pilia, G., Forabosco, A. <strong>Genes and translocations involved in POF.</strong> Am. J. Med. Genet. 111: 328-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210333</a>] [<a href="https://doi.org/10.1002/ajmg.10565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210333">Schlessinger et al. (2002)</a> concluded that chromosome dynamics in the region may be sensitive to structural changes, and when modified by translocations may provoke apoptosis at meiotic checkpoints. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210333" 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="#28" class="mim-tip-reference" title="Rizzolio, F., Sala, C., Alboresi, S., Bione, S., Gilli, S., Goegan, M., Pramparo, T., Zuffardi, O., Toniolo, D. <strong>Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.</strong> Hum. Genet. 121: 441-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17265046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17265046</a>] [<a href="https://doi.org/10.1007/s00439-007-0329-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17265046">Rizzolio et al. (2007)</a> analyzed the breakpoints of 4 POF cases with Xq chromosomal rearrangements and found that while the X-chromosome breakpoints interrupted a gene-poor region on Xq21 containing no ovary-expressed candidate genes, ovary-expressed genes flanked the autosomal breakpoints in all 4 cases. In another case involving an X;autosome balanced translocation and normal fertility, the X-chromosome breakpoint was flanked by 2 POF-associated breakpoints, whereas the autosomal breakpoint mapped to an rDNA cluster on chromosome 22p. Microarray expression data showed that global downregulation in the oocyte and upregulation in the ovary of X-linked genes compared to autosomal genes was primarily due to genes in the POF 'critical region.' <a href="#28" class="mim-tip-reference" title="Rizzolio, F., Sala, C., Alboresi, S., Bione, S., Gilli, S., Goegan, M., Pramparo, T., Zuffardi, O., Toniolo, D. <strong>Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.</strong> Hum. Genet. 121: 441-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17265046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17265046</a>] [<a href="https://doi.org/10.1007/s00439-007-0329-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17265046">Rizzolio et al. (2007)</a> suggested that POF associated with X;autosome balanced translocations may be caused by an oocyte-specific position effect on autosomal genes in some cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17265046" 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><strong><em>Other Associations</em></strong></p><p>
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POF has an autoimmune pathogenesis in a significant proportion of cases. Autoantibodies to 3-beta-HSD (<a href="/entry/613890">613890</a>) are present in one-fifth of patients and may identify an autoimmune subgroup. <a href="#2" class="mim-tip-reference" title="Arif, S., Underhill, J. A., Donaldson, P., Conway, G. S., Peakman, M. <strong>Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3-beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure.</strong> J. Clin. Endocr. Metab. 84: 1056-1060, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10084595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10084595</a>] [<a href="https://doi.org/10.1210/jcem.84.3.5556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10084595">Arif et al. (1999)</a> showed that POF patients with 3-beta-HSD autoantibodies have a higher frequency of DQB1 (<a href="/entry/604305">604305</a>) alleles that encode aspartate at codon 57 on the DQ-beta chain, although levels of significance were not maintained after correction for multiple analyses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10084595" 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>Nomenclature of Expanded Trinucleotide Repeats</em></strong></p><p>
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The repeat in the FMR1 gene that is involved in the fragile X syndrome (<a href="/entry/300624">300624</a>) and is also associated with premature ovarian failure is variously referred to here as (CGG)n or (CCG)n. The identical repeat found in the cloned FRAXE gene (<a href="/entry/309548">309548</a>) was referred to as (GCC)n by <a href="#16" class="mim-tip-reference" title="Knight, S. J. L., Flannery, A. V., Hirst, M. C., Campbell, L., Christodoulou, Z., Phelps, S. R., Pointon, J., Middleton-Price, H. R., Barnicoat, A., Pembrey, M. E., Holland, J., Oostra, B. A., Bobrow, M., Davies, K. E. <strong>Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.</strong> Cell 74: 127-134, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8334699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8334699</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90300-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8334699">Knight et al. (1993)</a>. There are only 10 different trinucleotide repeats, but each can be written in a number of ways. <a href="#38" class="mim-tip-reference" title="Sutherland, G. R. <strong>Personal Communication.</strong> Adelaide, Australia 11/3/1993."None>Sutherland (1993)</a> favored the convention that lists the motif in alphabetical order in the 5-prime to 3-prime direction. Consistent with this, he uses the (CCG)n designation. He preferred, furthermore, the designation (AGC)n for the other clinically significant dinucleotide repeat found in myotonic dystrophy (DM1; <a href="/entry/160900">160900</a>), Huntington disease (143100), Kennedy disease (SMAX1; <a href="/entry/313200">313200</a>), and SCA1 (<a href="/entry/164400">164400</a>); (CAG)n is the designation most often used. <a href="#38" class="mim-tip-reference" title="Sutherland, G. R. <strong>Personal Communication.</strong> Adelaide, Australia 11/3/1993."None>Sutherland (1993)</a> suggested that the same convention can apply to dinucleotides. He wrote: 'It must be very confusing for newcomers to the literature to find (AC)n, (CA)n, (GT)n, and (TG)n repeats, when the cognoscenti know these are synonyms.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8334699" 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><strong><em>Premature Ovarian Failure 1</em></strong></p><p>
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<a href="#26" class="mim-tip-reference" title="Murray, A., Webb, J., Grimley, S., Conway, G., Jacobs, P. <strong>Studies of FRAXA and FRAXE in women with premature ovarian failure.</strong> J. Med. Genet. 35: 637-640, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719368</a>] [<a href="https://doi.org/10.1136/jmg.35.8.637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719368">Murray et al. (1998)</a> screened 147 women with idiopathic premature ovarian failure, defined as cessation of menses before 40 years of age with no known cause, and found a significant association with premutations in the FMR1 gene (<a href="/entry/309550#0004">309550.0004</a>). Of the 6 women with FRAXA premutations, 4 were familial cases; analysis of 3 affected female relatives demonstrated that they also carried FRAXA premutations. None of the women had full mutations in the FMR1 gene. The authors concluded that FRAXA premutation alleles can affect ovarian development or function or both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719368" 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="#25" class="mim-tip-reference" title="Murray, A., Webb, J., Dennis, N., Conway, G., Morton, N. <strong>Microdeletions in FMR2 may be a significant cause of premature ovarian failure.</strong> J. Med. Genet. 36: 767-770, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528856</a>] [<a href="https://doi.org/10.1136/jmg.36.10.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528856">Murray et al. (1999)</a> screened a cohort of 209 women with POF for FMR1 premutations and found that 9 had greater than 50 trinucleotide repeats (<a href="/entry/309550#0004">309550.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528856" 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 an international collaborative study of 760 women from fragile X families, <a href="#1" class="mim-tip-reference" title="Allingham-Hawkins, D. J., Babul-Hirji, R., Chitayat, D., Holden, J. J. A., Yang, K. T., Lee, C., Hudson, R., Gorwill, H., Nolin, S. L., Glicksman, A., Jenkins, E. C., Brown, W. T., and 27 others. <strong>Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study--preliminary data.</strong> Am. J. Med. Genet. 83: 322-325, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10208170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10208170</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10208170[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10208170">Allingham-Hawkins et al. (1999)</a> found that 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. In 63 (16%) of the premutation carriers, menopause occurred before the age of 40, compared with none of the full-mutation carriers and 1 (0.4%) of the controls, indicating a significant association between premature menopause and premutation carrier status. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10208170" 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>Among 109 female premutation carriers, <a href="#12" class="mim-tip-reference" title="Hundscheid, R. D. L., Sistermans, E. A., Thomas, C. M. G., Braat, D. D. M., Straatman, H., Kiemeney, L. A. L. M., Oostra, B. A., Smits, A. P. T. <strong>Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.</strong> Am. J. Hum. Genet. 66: 413-418, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677300</a>] [<a href="https://doi.org/10.1086/302774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677300">Hundscheid et al. (2000)</a> found that POF had occurred in 23 (28%) of 82 with paternal inheritance and only 1 (3.7%) of 23 with maternal inheritance. Kaplan-Meier analysis of a larger group of 148 premutation carriers showed that the age at menopause was significantly lower in the women with paternal inheritance compared to those with maternal inheritance (p = 0.003 with Breslow test in Kaplan-Meier analysis). <a href="#12" class="mim-tip-reference" title="Hundscheid, R. D. L., Sistermans, E. A., Thomas, C. M. G., Braat, D. D. M., Straatman, H., Kiemeney, L. A. L. M., Oostra, B. A., Smits, A. P. T. <strong>Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.</strong> Am. J. Hum. Genet. 66: 413-418, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677300</a>] [<a href="https://doi.org/10.1086/302774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677300">Hundscheid et al. (2000)</a> hypothesized a paternal imprinting effect on POF in fragile X premutation carriers. Expression of the FMR1 gene and other X-linked genes is nonfunctional during normal spermatogenesis, when the X chromosome becomes condensed and transcriptionally inactive. Most genes are reactivated during the first few cell divisions after fertilization, whereas 2 X chromosomes are active in the female morula. However, when a paternal gene is imprinted, there may be a delay in reactivation of the inactive paternal X chromosome during early embryonic development; thus, only the maternal allele would be expressed at this critical developmental stage. Although there was no direct evidence that abnormal FMR1 protein production in oocytes leads to a smaller oocyte pool, it was considered possible that FMR1 protein plays a role in oogenesis, because FMR1 is highly expressed when oogenesis occurs. <a href="#23" class="mim-tip-reference" title="Murray, A., Ennis, S., Morton, N. <strong>No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. (Letter)</strong> Am. J. Hum. Genet. 67: 253-254, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10848495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10848495</a>] [<a href="https://doi.org/10.1086/302963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10848495">Murray et al. (2000)</a> and <a href="#40" class="mim-tip-reference" title="Vianna-Morgante, A. M., Costa, S. S. <strong>Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. (Letter)</strong> Am. J. Hum. Genet. 67: 254-255, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10848496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10848496</a>] [<a href="https://doi.org/10.1086/302976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10848496">Vianna-Morgante and Costa (2000)</a> were unable to confirm a parent-of-origin effect on premature ovarian failure in fragile X premutation carriers. The reason for the discrepancy with the findings of <a href="#12" class="mim-tip-reference" title="Hundscheid, R. D. L., Sistermans, E. A., Thomas, C. M. G., Braat, D. D. M., Straatman, H., Kiemeney, L. A. L. M., Oostra, B. A., Smits, A. P. T. <strong>Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.</strong> Am. J. Hum. Genet. 66: 413-418, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10677300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10677300</a>] [<a href="https://doi.org/10.1086/302774" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10677300">Hundscheid et al. (2000)</a> was discussed by <a href="#13" class="mim-tip-reference" title="Hundscheid, R. D. L., Thomas, C. M. G., Braat, D. D. M., Oostra, B. A., Smits, A. P. T. <strong>Reply to the letters from Murray et al. and Vianna-Morgante and Costa. (Letter)</strong> Am. J. Hum. Genet. 67: 256-258, 2000."None>Hundscheid et al. (2000)</a> and <a href="#33" class="mim-tip-reference" title="Sherman, S. L. <strong>Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? (Editorial)</strong> Am. J. Hum. Genet. 67: 11-13, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10848491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10848491</a>] [<a href="https://doi.org/10.1086/302985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10848491">Sherman (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10848496+10677300+10848491+10848495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Machado-Ferreira Mdo, C., Costa-Lima, M. A., Boy, R. T., Esteves, G. S., Pimentel, M. M. G. <strong>Premature ovarian failure and FRAXA premutation: positive correlation in a Brazilian survey.</strong> Am. J. Med. Genet. 126A: 237-240, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054835</a>] [<a href="https://doi.org/10.1002/ajmg.a.20585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054835">Machado-Ferreira Mdo et al. (2004)</a> studied 58 women from 24 families with fragile X syndrome. Using Southern blotting for direct DNA analysis, they identified 19 normal individuals, 33 premutation carriers, and 6 fully mutated individuals; the results included 4 cases of somatic mosaicism showing premutated and fully mutated alleles. Among the premutated women, 11 (including 1 case of somatic mosaicism) experienced menopause before the age of 40 (POF), while none of the normal women identified in these families experienced POF. The data corroborated the notion that females carrying alleles in the premutation range are at high risk of experiencing POF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054835" 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>Among 53 unrelated women with POF, <a href="#5" class="mim-tip-reference" title="Bretherick, K. L., Fluker, M. R., Robinson, W. P. <strong>FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.</strong> Hum. Genet. 117: 376-382, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16078053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16078053</a>] [<a href="https://doi.org/10.1007/s00439-005-1326-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16078053">Bretherick et al. (2005)</a> found a significant increase in the number of FMR1 alleles (14.2%) in the intermediate or high-normal zones (35 to 54 CGG repeats) compared to 161 controls (6.5%) and 21 women with proven fertility at an advanced age (4.8%). Two individuals with premature ovarian failure had premutation alleles (62 and 80 repeats, respectively), 1 control individual had a premutation allele (70 repeats), and 1 control had a full mutation allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16078053" 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="#24" class="mim-tip-reference" title="Murray, A., Schoemaker, M. J., Bennett, C. E., Ennis, S., Macpherson, J. N., Jones, M., Morris, D. H., Orr, N., Ashworth, A., Jacobs, P. A., Swerdlow, A. J. <strong>Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.</strong> Genet. Med. 16: 19-24, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23703681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23703681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23703681[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2013.64" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23703681">Murray et al. (2014)</a> studied FMR1 CGG repeat number in more than 2,000 women from the Breakthrough Generations Study who underwent menopause before the age of 46. The authors determined the prevalence of premutation FMR1 alleles (55-200 CGG repeats) and intermediate (45-54 CGG repeats) alleles in 254 women with primary ovarian failure, defined as menopause prior to the age of 40, and 1,881 with early menopause, defined as menopause between the ages of 40 and 45. The prevalence of the premutation was 2.0% in primary ovarian failure and 0.7% in early menopause compared with 0.4% in controls, corresponding to odds ratios of 5.4 (95% CI = 1.7-17.4; p = 0.004) for primary ovarian failure and 2.0 (95% CI = 0.8-5.1; p = 0.12) for early menopause. Intermediate alleles were not significant risk factors for either early menopause or primary ovarian failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23703681" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In a cohort of 200 women with POF who did not carry a FRAXA premutation, <a href="#25" class="mim-tip-reference" title="Murray, A., Webb, J., Dennis, N., Conway, G., Morton, N. <strong>Microdeletions in FMR2 may be a significant cause of premature ovarian failure.</strong> J. Med. Genet. 36: 767-770, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528856</a>] [<a href="https://doi.org/10.1136/jmg.36.10.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528856">Murray et al. (1999)</a> screened for mutations in the FMR2 gene (AFF2; <a href="/entry/300806">300806</a>) and found an excess of FMR2 alleles with fewer than 11 repeats. Sequence analysis of these alleles showed that the excess was caused by 3 individuals carrying cryptic deletions in FMR2, the gene associated with FRAXE. <a href="#25" class="mim-tip-reference" title="Murray, A., Webb, J., Dennis, N., Conway, G., Morton, N. <strong>Microdeletions in FMR2 may be a significant cause of premature ovarian failure.</strong> J. Med. Genet. 36: 767-770, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528856</a>] [<a href="https://doi.org/10.1136/jmg.36.10.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528856">Murray et al. (1999)</a> proposed that microdeletions in FMR2 may be a significant cause of POF, being found in 1.5% of the population with POF, but in only 0.04% of the general population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For discussion of a possible association between POF and variation in the INHA gene, see <a href="/entry/147380#0001">147380.0001</a>.</p><p>For discussion of a possible association between POF and variation in the DMC1 gene, see <a href="/entry/602721#0001">602721.0001</a>.</p><p>For discussion of a possible association between POF and variation in the KHDRBS1 gene, see <a href="/entry/602489">602489</a>.</p><p>For discussion of a possible association between POF and variation in the EXO1 gene, see <a href="/entry/606063">606063</a>.</p><p>For discussion of a possible association between POF and variation in the RAD51 gene, see <a href="/entry/179617">179617</a>.</p>
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<p><a href="#34" class="mim-tip-reference" title="Shiina, H., Matsumoto, T., Sato, T., Igarashi, K., Miyamoto, J., Takemasa, S., Sakari, M., Takada, I., Nakamura, T., Metzger, D., Chambon, P., Kanno, J., Yoshikawa, H., Kato, S. <strong>Premature ovarian failure in androgen receptor-deficient mice.</strong> Proc. Nat. Acad. Sci. 103: 224-229, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16373508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16373508</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16373508[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.0506736102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16373508">Shiina et al. (2006)</a> observed that female Ar (<a href="/entry/313700">313700</a>)-null mice appeared normal but developed premature ovarian failure with aberrant ovarian gene expression. Eight-week-old Ar -/- females were fertile, but had lower follicle numbers and impaired mammary development, and produced only half of the normal number of pups per litter. Forty-week-old Ar -/- females were infertile due to complete loss of follicles. Genomewide microarray analysis of mRNA from Ar -/- ovaries revealed that a number of major regulators of folliculogenesis were under transcriptional control by Ar. <a href="#34" class="mim-tip-reference" title="Shiina, H., Matsumoto, T., Sato, T., Igarashi, K., Miyamoto, J., Takemasa, S., Sakari, M., Takada, I., Nakamura, T., Metzger, D., Chambon, P., Kanno, J., Yoshikawa, H., Kato, S. <strong>Premature ovarian failure in androgen receptor-deficient mice.</strong> Proc. Nat. Acad. Sci. 103: 224-229, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16373508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16373508</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16373508[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.0506736102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16373508">Shiina et al. (2006)</a> suggested that AR function is required for normal female reproduction, particularly folliculogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16373508" 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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Allingham-Hawkins, D. J., Babul-Hirji, R., Chitayat, D., Holden, J. J. A., Yang, K. T., Lee, C., Hudson, R., Gorwill, H., Nolin, S. L., Glicksman, A., Jenkins, E. C., Brown, W. T., and 27 others.
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<strong>Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study--preliminary data.</strong>
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Arif, S., Underhill, J. A., Donaldson, P., Conway, G. S., Peakman, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10084595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10084595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10084595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.84.3.5556" target="_blank">Full Text</a>]
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Bione, S., Sala, C., Manzini, C., Arrigo, G., Zuffardi, O., Banfi, S., Borsani, G., Jonveaux, P., Philippe, C., Zuccotti, M., Ballabio, A., Toniolo, D.
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<strong>A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.</strong>
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Am. J. Hum. Genet. 62: 533-541, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9497258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9497258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9497258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/301761" target="_blank">Full Text</a>]
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Bouilly, J., Beau, I., Barraud, S., Bernard, V., Azibi, K., Fagart, J., Fevre, A., Todeschini, A. L., Veitia, R. A., Beldjord, C., Delemer, B., Dode, C., Young, J., Binart, N.
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<strong>Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency.</strong>
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J. Clin. Endocr. Metab. 101: 4541-4550, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27603904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27603904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27603904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bretherick, K. L., Fluker, M. R., Robinson, W. P.
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<strong>FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.</strong>
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Hum. Genet. 117: 376-382, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16078053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16078053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16078053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fertil. Steril. 40: 693-695, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6628716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6628716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6628716" 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/s0015-0282(16)47433-9" target="_blank">Full Text</a>]
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Coulam, C. B.
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<strong>Premature gonadal failure.</strong>
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Fertil. Steril. 38: 645-655, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7141005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7141005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7141005" 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/s0015-0282(16)46688-4" target="_blank">Full Text</a>]
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Davison, R. M., Quilter, C. R., Webb, J., Murray, A., Fisher, A. M., Valentine, A., Serhal, P., Conway, G. S.
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[<a href="https://doi.org/10.1093/humrep/13.11.3039" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9378(16)34255-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.8.637" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/humupd/dmv036" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-007-0329-z" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201186" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/cge.12921" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00283050" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00270550" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302976" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050501" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/04/2023
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Marla J. F. O'Neill - updated : 02/23/2021<br>Marla J. F. O'Neill - updated : 02/17/2020<br>Marla J. F. O'Neill - updated : 06/12/2018<br>Marla J. F. O'Neill - updated : 06/06/2018<br>Marla J. F. O'Neill - updated : 04/20/2017<br>Marla J. F. O'Neill - updated : 04/17/2017<br>Ada Hamosh - updated : 1/31/2014<br>Marla J. F. O'Neill - updated : 10/28/2011<br>Marla J. F. O'Neill - updated : 9/18/2008<br>Marla J. F. O'Neill - updated : 10/23/2007<br>Marla J. F. O'Neill - updated : 8/22/2007<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Anne M. Stumpf - updated : 6/22/2006<br>Marla J. F. O'Neill - updated : 3/23/2006<br>Marla J. F. O'Neill - updated : 6/24/2005<br>Marla J. F. O'Neill - updated : 12/22/2004<br>Marla J. F. O'Neill - updated : 11/12/2004<br>Jane Kelly - updated : 8/20/2004<br>Victor A. McKusick - updated : 9/20/2002<br>Victor A. McKusick - updated : 11/28/2000<br>Michael J. Wright - updated : 1/18/2000<br>John A. Phillips, III - updated : 12/8/1999<br>Victor A. McKusick - updated : 4/26/1999<br>Victor A. McKusick - updated : 3/25/1997
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Victor A. McKusick : 8/6/1987
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alopez : 01/16/2025
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alopez : 11/01/2024<br>carol : 05/28/2024<br>alopez : 01/22/2024<br>alopez : 10/23/2023<br>carol : 04/04/2023<br>carol : 06/30/2022<br>alopez : 06/03/2022<br>alopez : 03/22/2021<br>alopez : 02/23/2021<br>alopez : 12/30/2020<br>carol : 02/17/2020<br>carol : 12/27/2019<br>alopez : 01/09/2019<br>carol : 07/13/2018<br>alopez : 06/12/2018<br>carol : 06/07/2018<br>carol : 06/06/2018<br>carol : 04/20/2017<br>carol : 04/18/2017<br>carol : 04/17/2017<br>carol : 04/17/2017<br>alopez : 05/18/2016<br>alopez : 5/12/2016<br>carol : 3/19/2015<br>mcolton : 3/18/2015<br>mcolton : 1/13/2015<br>alopez : 4/2/2014<br>alopez : 4/2/2014<br>carol : 4/2/2014<br>mcolton : 4/1/2014<br>mcolton : 4/1/2014<br>alopez : 1/31/2014<br>alopez : 11/2/2011<br>terry : 10/28/2011<br>carol : 4/28/2011<br>alopez : 4/12/2011<br>carol : 4/7/2011<br>carol : 9/1/2010<br>carol : 8/31/2010<br>carol : 8/13/2010<br>carol : 8/14/2009<br>carol : 7/31/2009<br>carol : 10/21/2008<br>wwang : 9/23/2008<br>terry : 9/18/2008<br>wwang : 10/24/2007<br>terry : 10/23/2007<br>alopez : 10/4/2007<br>wwang : 8/28/2007<br>terry : 8/22/2007<br>wwang : 8/15/2006<br>terry : 8/11/2006<br>carol : 6/23/2006<br>carol : 6/23/2006<br>alopez : 6/22/2006<br>wwang : 3/23/2006<br>carol : 6/24/2005<br>terry : 6/24/2005<br>carol : 1/19/2005<br>carol : 12/22/2004<br>carol : 12/22/2004<br>terry : 12/22/2004<br>tkritzer : 11/12/2004<br>alopez : 11/2/2004<br>alopez : 10/27/2004<br>alopez : 10/27/2004<br>alopez : 10/26/2004<br>tkritzer : 8/20/2004<br>alopez : 7/1/2004<br>tkritzer : 9/24/2002<br>tkritzer : 9/20/2002<br>tkritzer : 9/20/2002<br>carol : 2/26/2001<br>alopez : 2/2/2001<br>alopez : 2/2/2001<br>alopez : 2/1/2001<br>mcapotos : 12/5/2000<br>mcapotos : 12/1/2000<br>terry : 11/28/2000<br>alopez : 1/18/2000<br>alopez : 12/8/1999<br>carol : 8/6/1999<br>alopez : 7/20/1999<br>alopez : 5/10/1999<br>terry : 4/26/1999<br>dholmes : 3/30/1998<br>alopez : 3/11/1998<br>terry : 3/9/1998<br>jenny : 3/25/1997<br>terry : 3/14/1997<br>carol : 10/24/1994<br>mimadm : 2/28/1994<br>carol : 11/13/1992<br>supermim : 3/17/1992<br>carol : 8/5/1991<br>supermim : 3/20/1990
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<strong>#</strong> 311360
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PREMATURE OVARIAN FAILURE 1; POF1
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<em>Alternative titles; symbols</em>
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PREMATURE OVARIAN FAILURE, X-LINKED; POFX<br />
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HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED<br />
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OVARIAN FAILURE, PREMATURE; POF<br />
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PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED<br />
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FRAGILE X PREMATURE OVARIAN FAILURE
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<strong>SNOMEDCT:</strong> 1332509007, 237788002, 65846009;
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<strong>ICD10CM:</strong> E28.3;
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<strong>ORPHA:</strong> 642691, 908;
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<strong>DO:</strong> 0080857;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq27.3
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Premature ovarian failure 1
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311360
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X-linked
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3
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FMR1
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309550
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that premature ovarian failure-1 (POF1) is associated with premutations in the FMR1 gene (309550) on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).</p>
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<strong>Description</strong>
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<p>Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). </p><p><strong><em>Reviews</em></strong></p><p>
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Qin et al. (2015) reviewed the genetics of primary ovarian insufficiency (POI), also known as POF. They noted that causative genes had been identified in only 20 to 25% of POI cases. </p><p>Rossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. </p><p><strong><em>Genetic Heterogeneity of Premature Ovarian Failure</em></strong></p><p>
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Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (300511) by mutation in the DIAPH2 gene (300108) and POF2B (300604) by mutation in the POF1B gene (300603). See also POF3 (608996), caused by mutation in the FOXL2 gene (605597) on chromosome 3q22; POF4 (see 300510), caused by mutation in the BMP15 gene (300247) on chromosome Xp11; POF5 (611548), caused by mutation in the NOBOX gene (610934) on chromosome 7q35; POF6 (612310), caused by mutation in the FIGLA gene (608697) on chromosome 2p13; POF7 (612964), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; POF8 (615723), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; POF9 (615724), caused by mutation in the HFM1 gene (615684) on chromosome 1p22; POF10 (612885), caused by mutation in the MCM8 gene (608187) on chromosome 20p12; POF11 (616946), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; POF12 (616947), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; POF13 (617442), caused by mutation in the MSH5 gene (603382) on chromosome 6p21; POF14 (618014), caused by mutation in the GDF9 gene (601918) on chromosome 5q31; POF15 (618096), caused by mutation in the FANCM gene (609644) on chromosome 14q21; POF16 (618723), caused by mutation in the BNC1 gene (601930) on chromosome 15q25; POF17 (619146), caused by mutation in the XRCC2 gene (600375) on chromosome 7q36; POF18 (619203), caused by mutation in the C14ORF39 gene (617307) on chromosome 14q23; POF19 (619245), caused by mutation in the HSF2BP gene (604554) on chromosome 21q22; POF20 (609938), caused by mutation in the MSH4 gene (602105) on chromosome 1p31; POF21 (620311), caused by mutation in the TP63 gene (603273) on chromosome 3q28; POF22 (620548), caused by mutation in the KASH5 gene (618125) on chromosome 19q13; POF23 (620686), caused by mutation in the MEIOB gene (617670) on chromosome 16p13; POF24 (620840), caused by mutation in the SYCP2L gene (616799) on chromosome 6p24; POF25 (621002), caused by mutation in the SPATA22 gene (617673) on chromosome 17p13; and POF26 (621065), caused by mutation in the MGA gene (616061) on chromosome 15q15.</p><p>In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF. </p>
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<strong>Clinical Features</strong>
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<p>Although the average age of menarche decreased during the 20th century, the mean age of menopause appears to be invariant with time and race and occurs at approximately 50 years. Premature ovarian failure can be defined as secondary amenorrhea with elevated gonadotropins occurring before age 40. Depletion of ova is usually the basis although an ovary no longer sensitive to gonadotropins can masquerade as true failure (Jones and De Moraes-Ruehsen, 1969; Maxson and Wentz, 1983). Premature ovarian failure is usually idiopathic but occasionally can be due to a genetic disorder that is associated with rapid atresia of follicles, such as Turner variants (Fitch et al., 1982), or with formation of a small number of follicles, as in galactosemia (230400) (Kaufman et al., 1981). Destruction of germ cells in pre- or postpubertal stages by viral infections, drugs (cigarette smoking, antitumor drugs), or radiation can also be responsible. Autoimmunity appears to be the basis of POF in patients with antiovarian antibodies, in Addison disease (240200) and in myasthenia gravis (254200). The role of familial factors was suggested by de Moraes-Ruehsen and Jones (1967) and by Smith et al. (1979). On the basis of 5 kindreds, Mattison et al. (1984) proposed that POF can be a mendelian disorder, inherited either paternally or maternally, as an autosomal or X-linked dominant. </p><p>Smith et al. (2004) studied 65 patients with POF and 36 age-matched healthy controls. They found that women with POF were more likely to exhibit ocular surface damage and symptoms of dry eye than age-matched controls, but were not more likely to have reduced tear production. </p><p>Eggermann et al. (2005) described a 33-year-old German woman with POF and her mother, who both showed mild Turner stigmata including a low-set hairline, moderately high-arched palate, short and mildly webbed neck, and hypoplastic and/or upturned fingernails and toenails. The daughter also had sparse hair and an asymmetric right hypoplastic breast. </p>
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<strong>Cytogenetics</strong>
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<p>Krauss et al. (1987) described a family in which 4 and perhaps 5 women in 3 generations had menstrual irregularities. Four of the 5 were demonstrated to have a partial deletion of the long arm of the X chromosome: 46,XX,del(X)(pter-q21.3::q27-qter). Ovarian function ceased prematurely with demonstrated estrogen deficiency and elevation of serum gonadotropin levels before the age of 40. In 3 of the 4 women, ovarian failure occurred at ages 24 to 37 years. Similar familial premature ovarian failure was reported by Coulam et al. (1983) and by Mattison et al. (1984). Premature menopause due to a small deletion in the long arm of the X chromosome was described by Fitch et al. (1982). Skibsted et al. (1984) suggested that the 'critical region' essential for normal ovarian function is Xq26-q28. The observations of Krauss et al. (1987) may indicate the presence in this region of a gene essential to ovarian function which in some nondeletion cases may be mutant, leading to the same clinical picture of premature ovarian failure. </p><p>In 2 sisters with POF, previously reported by Fitch et al. (1982), Schwartz et al. (1987) used polymorphic DNA probes to define further the small deletion of the long arm of 1 of their X chromosomes. The deleted chromosome retained the factor IX locus (F9; 300746) and 2 loci proximal to F9, but the factor VIII locus (F8; 300841) and 2 loci tightly linked to it were not present. BrdU incorporation confirmed that the deleted chromosome was always the inactive one. Schwartz et al. (1987) designated the patients' deletion del(X)(pter-q26.3:). One sister had entered menopause at age 21; the other, who had 1 child, had very irregular menstrual periods before age 40. Their mother, who was deceased, was said to have had onset of menopause at age 35. The women were of normal intelligence and in good health; none had stigmata of the Turner syndrome. </p><p>To establish the prevalence of X chromosome deletions in women with premature ovarian failure, Davison et al. (1998) performed cytogenetic analyses on 79 women with primary or secondary amenorrhea. A normal karyotype was found in 77 women. One woman with primary amenorrhea had an XY karyotype and a woman with secondary amenorrhea had a deletion at Xq26.1. This second woman had a family history of premature ovarian failure; her mother, who underwent premature ovarian failure at 28 years, shared the deletion. The early diagnosis of familial X deletions causing POF allowed for the prediction of impending menopause and the implementation of maneuvers to advance conception. </p><p>Marozzi et al. (2000) performed high-resolution cytogenetic analysis of a large number of women with POF and identified 6 patients carrying different Xq chromosome rearrangements. The patients (1 familial and 5 sporadic cases) were negative for Turner stigmata and experienced a variable onset of menopause. All of the patients had an Xq deletion as the common chromosome abnormality, which was the only event in 3 patients and was associated with partial Xp or 9p trisomies in the remaining 3. Two of these, carrying X;X and X;9 unbalanced translocations, respectively, showed terminal deletions with the breakpoint at Xq22 within the DIAPH2 gene (300108). Marozzi et al. (2000) concluded that the restricted Xq region involved in the POF phenotype extends from approximately Xq26.2 to Xq28 and covers approximately 22 Mb of DNA. </p><p>In 2 sisters with POF and their mother, originally described by Maraschio et al. (1996), Rossetti et al. (2004) reported the fine mapping of an interstitial deletion of the X chromosome. The 2 daughters had secondary amenorrhea at 17 and 22 years of age, respectively, whereas their mother was fertile, had 4 children, and underwent premature menopause at 43 years of age. The proximal breakpoint was mapped to Xq27.3 and the distal breakpoint was localized within the OPN (see 300821)/CXORF2 (see 300092) gene cluster on Xq28. Rossetti et al. (2004) compared the deletion in these 3 women with that in a family identified from a male proband with X-linked mental retardation in which the mother had undergone menopause at age 47 years (Wolff et al., 1997), indicating that the deletion in the second family did not include a gene for POF. The 2 deletions were found to partly overlap in their proximal region, thus reducing the POF susceptibility region to a 4.5-Mb interval between the iduronate 2-sulfatase gene (IDS; 300823) and the OPN gene cluster. Because the deletion breakpoints were identical in the 3 women, Rossetti et al. (2004) concluded that the phenotypic differences in this family must have been due to other genetic or environmental factors. </p><p>In a 33-year-old German woman with POF and her mother, Eggermann et al. (2005) identified a small terminal Xq deletion; typing of microsatellite markers narrowed the deletion to a 10.5-Mb region, Xq27.2/Xq27.3-q28. </p>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</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>Findings derived from investigation of X/autosome balanced translocations and Xq terminal deletions allowed identification of 2 independent regions within the Xq arm that seemed to be involved in ovarian function (Marozzi et al., 2000). These regions are located at Xq26-q28 (Tharapel et al., 1993) and Xq13.3-q22. </p><p>Schlessinger et al. (2002) reviewed genes and translocations involved in POF. Sporadic X;autosomal translocations showed breakpoints distributed at many points on the X chromosome, but concentrated in a critical region on Xq. They suggested that many of the translocations, like X monosomy (Turner syndrome), lead to POF not by interrupting specific genes important in ovarian development, but by causing aberrations in pairing or X inactivation during folliculogenesis. The authors noted that the critical region has unusual features, neighboring the X-inactivation center and including an 18-Mb region of very low recombination. Schlessinger et al. (2002) concluded that chromosome dynamics in the region may be sensitive to structural changes, and when modified by translocations may provoke apoptosis at meiotic checkpoints. </p><p>Rizzolio et al. (2007) analyzed the breakpoints of 4 POF cases with Xq chromosomal rearrangements and found that while the X-chromosome breakpoints interrupted a gene-poor region on Xq21 containing no ovary-expressed candidate genes, ovary-expressed genes flanked the autosomal breakpoints in all 4 cases. In another case involving an X;autosome balanced translocation and normal fertility, the X-chromosome breakpoint was flanked by 2 POF-associated breakpoints, whereas the autosomal breakpoint mapped to an rDNA cluster on chromosome 22p. Microarray expression data showed that global downregulation in the oocyte and upregulation in the ovary of X-linked genes compared to autosomal genes was primarily due to genes in the POF 'critical region.' Rizzolio et al. (2007) suggested that POF associated with X;autosome balanced translocations may be caused by an oocyte-specific position effect on autosomal genes in some cases. </p><p><strong><em>Other Associations</em></strong></p><p>
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POF has an autoimmune pathogenesis in a significant proportion of cases. Autoantibodies to 3-beta-HSD (613890) are present in one-fifth of patients and may identify an autoimmune subgroup. Arif et al. (1999) showed that POF patients with 3-beta-HSD autoantibodies have a higher frequency of DQB1 (604305) alleles that encode aspartate at codon 57 on the DQ-beta chain, although levels of significance were not maintained after correction for multiple analyses. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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><strong><em>Nomenclature of Expanded Trinucleotide Repeats</em></strong></p><p>
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The repeat in the FMR1 gene that is involved in the fragile X syndrome (300624) and is also associated with premature ovarian failure is variously referred to here as (CGG)n or (CCG)n. The identical repeat found in the cloned FRAXE gene (309548) was referred to as (GCC)n by Knight et al. (1993). There are only 10 different trinucleotide repeats, but each can be written in a number of ways. Sutherland (1993) favored the convention that lists the motif in alphabetical order in the 5-prime to 3-prime direction. Consistent with this, he uses the (CCG)n designation. He preferred, furthermore, the designation (AGC)n for the other clinically significant dinucleotide repeat found in myotonic dystrophy (DM1; 160900), Huntington disease (143100), Kennedy disease (SMAX1; 313200), and SCA1 (164400); (CAG)n is the designation most often used. Sutherland (1993) suggested that the same convention can apply to dinucleotides. He wrote: 'It must be very confusing for newcomers to the literature to find (AC)n, (CA)n, (GT)n, and (TG)n repeats, when the cognoscenti know these are synonyms.' </p><p><strong><em>Premature Ovarian Failure 1</em></strong></p><p>
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Murray et al. (1998) screened 147 women with idiopathic premature ovarian failure, defined as cessation of menses before 40 years of age with no known cause, and found a significant association with premutations in the FMR1 gene (309550.0004). Of the 6 women with FRAXA premutations, 4 were familial cases; analysis of 3 affected female relatives demonstrated that they also carried FRAXA premutations. None of the women had full mutations in the FMR1 gene. The authors concluded that FRAXA premutation alleles can affect ovarian development or function or both. </p><p>Murray et al. (1999) screened a cohort of 209 women with POF for FMR1 premutations and found that 9 had greater than 50 trinucleotide repeats (309550.0004). </p><p>In an international collaborative study of 760 women from fragile X families, Allingham-Hawkins et al. (1999) found that 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. In 63 (16%) of the premutation carriers, menopause occurred before the age of 40, compared with none of the full-mutation carriers and 1 (0.4%) of the controls, indicating a significant association between premature menopause and premutation carrier status. </p><p>Among 109 female premutation carriers, Hundscheid et al. (2000) found that POF had occurred in 23 (28%) of 82 with paternal inheritance and only 1 (3.7%) of 23 with maternal inheritance. Kaplan-Meier analysis of a larger group of 148 premutation carriers showed that the age at menopause was significantly lower in the women with paternal inheritance compared to those with maternal inheritance (p = 0.003 with Breslow test in Kaplan-Meier analysis). Hundscheid et al. (2000) hypothesized a paternal imprinting effect on POF in fragile X premutation carriers. Expression of the FMR1 gene and other X-linked genes is nonfunctional during normal spermatogenesis, when the X chromosome becomes condensed and transcriptionally inactive. Most genes are reactivated during the first few cell divisions after fertilization, whereas 2 X chromosomes are active in the female morula. However, when a paternal gene is imprinted, there may be a delay in reactivation of the inactive paternal X chromosome during early embryonic development; thus, only the maternal allele would be expressed at this critical developmental stage. Although there was no direct evidence that abnormal FMR1 protein production in oocytes leads to a smaller oocyte pool, it was considered possible that FMR1 protein plays a role in oogenesis, because FMR1 is highly expressed when oogenesis occurs. Murray et al. (2000) and Vianna-Morgante and Costa (2000) were unable to confirm a parent-of-origin effect on premature ovarian failure in fragile X premutation carriers. The reason for the discrepancy with the findings of Hundscheid et al. (2000) was discussed by Hundscheid et al. (2000) and Sherman (2000). </p><p>Machado-Ferreira Mdo et al. (2004) studied 58 women from 24 families with fragile X syndrome. Using Southern blotting for direct DNA analysis, they identified 19 normal individuals, 33 premutation carriers, and 6 fully mutated individuals; the results included 4 cases of somatic mosaicism showing premutated and fully mutated alleles. Among the premutated women, 11 (including 1 case of somatic mosaicism) experienced menopause before the age of 40 (POF), while none of the normal women identified in these families experienced POF. The data corroborated the notion that females carrying alleles in the premutation range are at high risk of experiencing POF. </p><p>Among 53 unrelated women with POF, Bretherick et al. (2005) found a significant increase in the number of FMR1 alleles (14.2%) in the intermediate or high-normal zones (35 to 54 CGG repeats) compared to 161 controls (6.5%) and 21 women with proven fertility at an advanced age (4.8%). Two individuals with premature ovarian failure had premutation alleles (62 and 80 repeats, respectively), 1 control individual had a premutation allele (70 repeats), and 1 control had a full mutation allele. </p><p>Murray et al. (2014) studied FMR1 CGG repeat number in more than 2,000 women from the Breakthrough Generations Study who underwent menopause before the age of 46. The authors determined the prevalence of premutation FMR1 alleles (55-200 CGG repeats) and intermediate (45-54 CGG repeats) alleles in 254 women with primary ovarian failure, defined as menopause prior to the age of 40, and 1,881 with early menopause, defined as menopause between the ages of 40 and 45. The prevalence of the premutation was 2.0% in primary ovarian failure and 0.7% in early menopause compared with 0.4% in controls, corresponding to odds ratios of 5.4 (95% CI = 1.7-17.4; p = 0.004) for primary ovarian failure and 2.0 (95% CI = 0.8-5.1; p = 0.12) for early menopause. Intermediate alleles were not significant risk factors for either early menopause or primary ovarian failure. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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In a cohort of 200 women with POF who did not carry a FRAXA premutation, Murray et al. (1999) screened for mutations in the FMR2 gene (AFF2; 300806) and found an excess of FMR2 alleles with fewer than 11 repeats. Sequence analysis of these alleles showed that the excess was caused by 3 individuals carrying cryptic deletions in FMR2, the gene associated with FRAXE. Murray et al. (1999) proposed that microdeletions in FMR2 may be a significant cause of POF, being found in 1.5% of the population with POF, but in only 0.04% of the general population. </p><p>For discussion of a possible association between POF and variation in the INHA gene, see 147380.0001.</p><p>For discussion of a possible association between POF and variation in the DMC1 gene, see 602721.0001.</p><p>For discussion of a possible association between POF and variation in the KHDRBS1 gene, see 602489.</p><p>For discussion of a possible association between POF and variation in the EXO1 gene, see 606063.</p><p>For discussion of a possible association between POF and variation in the RAD51 gene, see 179617.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shiina et al. (2006) observed that female Ar (313700)-null mice appeared normal but developed premature ovarian failure with aberrant ovarian gene expression. Eight-week-old Ar -/- females were fertile, but had lower follicle numbers and impaired mammary development, and produced only half of the normal number of pups per litter. Forty-week-old Ar -/- females were infertile due to complete loss of follicles. Genomewide microarray analysis of mRNA from Ar -/- ovaries revealed that a number of major regulators of folliculogenesis were under transcriptional control by Ar. Shiina et al. (2006) suggested that AR function is required for normal female reproduction, particularly folliculogenesis. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Allingham-Hawkins, D. J., Babul-Hirji, R., Chitayat, D., Holden, J. J. A., Yang, K. T., Lee, C., Hudson, R., Gorwill, H., Nolin, S. L., Glicksman, A., Jenkins, E. C., Brown, W. T., and 27 others.
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<strong>Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study--preliminary data.</strong>
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Am. J. Med. Genet. 83: 322-325, 1999.
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</li>
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<p class="mim-text-font">
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Arif, S., Underhill, J. A., Donaldson, P., Conway, G. S., Peakman, M.
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<strong>Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3-beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure.</strong>
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J. Clin. Endocr. Metab. 84: 1056-1060, 1999.
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<p class="mim-text-font">
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Bione, S., Sala, C., Manzini, C., Arrigo, G., Zuffardi, O., Banfi, S., Borsani, G., Jonveaux, P., Philippe, C., Zuccotti, M., Ballabio, A., Toniolo, D.
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<strong>A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.</strong>
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Am. J. Hum. Genet. 62: 533-541, 1998.
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Bouilly, J., Beau, I., Barraud, S., Bernard, V., Azibi, K., Fagart, J., Fevre, A., Todeschini, A. L., Veitia, R. A., Beldjord, C., Delemer, B., Dode, C., Young, J., Binart, N.
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<strong>Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency.</strong>
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J. Clin. Endocr. Metab. 101: 4541-4550, 2016.
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Bretherick, K. L., Fluker, M. R., Robinson, W. P.
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<strong>FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.</strong>
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Hum. Genet. 117: 376-382, 2005.
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<p class="mim-text-font">
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Coulam, C. B., Stringfellow, S., Hoefnagel, D.
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<strong>Evidence for a genetic factor in the etiology of premature ovarian failure.</strong>
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Fertil. Steril. 40: 693-695, 1983.
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[PubMed: 6628716]
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[Full Text: https://doi.org/10.1016/s0015-0282(16)47433-9]
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<p class="mim-text-font">
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Coulam, C. B.
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<strong>Premature gonadal failure.</strong>
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Fertil. Steril. 38: 645-655, 1982.
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[PubMed: 7141005]
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[Full Text: https://doi.org/10.1016/s0015-0282(16)46688-4]
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<p class="mim-text-font">
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Davison, R. M., Quilter, C. R., Webb, J., Murray, A., Fisher, A. M., Valentine, A., Serhal, P., Conway, G. S.
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<strong>A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure.</strong>
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Hum. Reprod. 13: 3039-3041, 1998.
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[PubMed: 9853851]
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[Full Text: https://doi.org/10.1093/humrep/13.11.3039]
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<p class="mim-text-font">
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de Moraes-Ruehsen, M., Jones, G. S.
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<strong>Premature ovarian failure.</strong>
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Fertil. Steril. 18: 440-461, 1967.
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[PubMed: 6028784]
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[Full Text: https://doi.org/10.1016/s0015-0282(16)36362-2]
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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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Eggermann, T., Meschede, D., Schuler, H., Palm, S., Glaser, D., Horsthemke, B., Eggermann, K., Haverkamp, F., Zerres, K.
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<strong>Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. (Letter)</strong>
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Clin. Genet. 67: 434-437, 2005.
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<p class="mim-text-font">
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Fitch, N., De Saint Victor, J., Richer, C.-L., Pinsky, L., Sitahal, S.
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<strong>Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review.</strong>
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Am. J. Obstet. Gynec. 142: 968-972, 1982.
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[PubMed: 7041651]
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[Full Text: https://doi.org/10.1016/0002-9378(82)90776-1]
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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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Hundscheid, R. D. L., Sistermans, E. A., Thomas, C. M. G., Braat, D. D. M., Straatman, H., Kiemeney, L. A. L. M., Oostra, B. A., Smits, A. P. T.
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<strong>Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.</strong>
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Am. J. Hum. Genet. 66: 413-418, 2000.
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[PubMed: 10677300]
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[Full Text: https://doi.org/10.1086/302774]
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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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Hundscheid, R. D. L., Thomas, C. M. G., Braat, D. D. M., Oostra, B. A., Smits, A. P. T.
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<strong>Reply to the letters from Murray et al. and Vianna-Morgante and Costa. (Letter)</strong>
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Am. J. Hum. Genet. 67: 256-258, 2000.
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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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Jones, G. S., De Moraes-Ruehsen, M.
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<strong>A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus.</strong>
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Am. J. Obstet. Gynec. 104: 597-601, 1969.
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[PubMed: 5786709]
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[Full Text: https://doi.org/10.1016/s0002-9378(16)34255-7]
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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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Kaufman, F. R., Kogut, M. D., Donnell, G. N., Goebelsmann, U., March, C., Koch, R.
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<strong>Hypergonadotropic hypogonadism in female patients with galactosemia.</strong>
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New Eng. J. Med. 304: 994-998, 1981.
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[PubMed: 6782485]
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[Full Text: https://doi.org/10.1056/NEJM198104233041702]
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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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Knight, S. J. L., Flannery, A. V., Hirst, M. C., Campbell, L., Christodoulou, Z., Phelps, S. R., Pointon, J., Middleton-Price, H. R., Barnicoat, A., Pembrey, M. E., Holland, J., Oostra, B. A., Bobrow, M., Davies, K. E.
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<strong>Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.</strong>
|
|
Cell 74: 127-134, 1993.
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[PubMed: 8334699]
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[Full Text: https://doi.org/10.1016/0092-8674(93)90300-f]
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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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Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G., Page, D. C.
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<strong>Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome.</strong>
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New Eng. J. Med. 317: 125-131, 1987.
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[PubMed: 3600701]
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[Full Text: https://doi.org/10.1056/NEJM198707163170301]
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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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Machado-Ferreira Mdo, C., Costa-Lima, M. A., Boy, R. T., Esteves, G. S., Pimentel, M. M. G.
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<strong>Premature ovarian failure and FRAXA premutation: positive correlation in a Brazilian survey.</strong>
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Am. J. Med. Genet. 126A: 237-240, 2004.
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[PubMed: 15054835]
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[Full Text: https://doi.org/10.1002/ajmg.a.20585]
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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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Maraschio, P. Tupler, R., Barbierato, L., Dainotti, E., Larizza, D., Bernardi, F., Hoeller, H., Garau, A., Tiepolo, L.
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<strong>An analysis of Xq deletions.</strong>
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Hum. Genet. 97: 375-381, 1996.
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[PubMed: 8786087]
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[Full Text: https://doi.org/10.1007/BF02185777]
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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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Marozzi, A., Manfredini, E., Tibiletti, M. G., Furlan, D., Villa, N., Vegetti, W., Crosignani, P. G., Ginelli, E., Meneveri, R., Dalpra, L.
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<strong>Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.</strong>
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Hum. Genet. 107: 304-311, 2000.
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Marla J. F. O'Neill - updated : 04/04/2023<br>Marla J. F. O'Neill - updated : 02/23/2021<br>Marla J. F. O'Neill - updated : 02/17/2020<br>Marla J. F. O'Neill - updated : 06/12/2018<br>Marla J. F. O'Neill - updated : 06/06/2018<br>Marla J. F. O'Neill - updated : 04/20/2017<br>Marla J. F. O'Neill - updated : 04/17/2017<br>Ada Hamosh - updated : 1/31/2014<br>Marla J. F. O'Neill - updated : 10/28/2011<br>Marla J. F. O'Neill - updated : 9/18/2008<br>Marla J. F. O'Neill - updated : 10/23/2007<br>Marla J. F. O'Neill - updated : 8/22/2007<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Anne M. Stumpf - updated : 6/22/2006<br>Marla J. F. O'Neill - updated : 3/23/2006<br>Marla J. F. O'Neill - updated : 6/24/2005<br>Marla J. F. O'Neill - updated : 12/22/2004<br>Marla J. F. O'Neill - updated : 11/12/2004<br>Jane Kelly - updated : 8/20/2004<br>Victor A. McKusick - updated : 9/20/2002<br>Victor A. McKusick - updated : 11/28/2000<br>Michael J. Wright - updated : 1/18/2000<br>John A. Phillips, III - updated : 12/8/1999<br>Victor A. McKusick - updated : 4/26/1999<br>Victor A. McKusick - updated : 3/25/1997
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