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Entry
- #248800 - MARINESCO-SJOGREN SYNDROME; MSS
- OMIM
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<span class="h4">#248800</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/248800"><strong>Clinical Synopsis</strong></a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MARINESCO-SJOGREN SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080195" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 80734006<br />
<strong>ORPHA:</strong> 559<br />
<strong>DO:</strong> 0080195<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
248800
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MARINESCO-SJOGREN SYNDROME; MSS
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/515?start=-3&limit=10&highlight=515">
5q31.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Marinesco-Sjogren syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/248800"> 248800 </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">
SIL1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608005"> 608005 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/248800" 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>
&nbsp;
<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/248800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/248800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Skeletal deformities due to severe myopathy and hypotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151491</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cubitus valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54583007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54583007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70123009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70123009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265611</a>, <a href="https://bioportal.bioontology.org/search?q=C0158465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span><br /> -
Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes planovalgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span><br /> -
Short metatarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849020</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Muscle weakness, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003323</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span><br /> -
Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Myopathic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
Muscle biopsy shows myopathic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836137</a>]</span><br /> -
Vacuolar degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151487</a>]</span><br /> -
Fatty infiltration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45752008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45752008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333575</a>]</span><br /> -
Autophagic rimmed vacuoles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151488</a>]</span><br /> -
Variation in fiber size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837325</a>]</span><br /> -
Centralized nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003687</a>]</span><br /> -
Necrotic and regenerating fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151489</a>]</span><br /> -
Type 1 fiber predominance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673678</a>]</span><br /> -
Dense membranous structure surrounding nuclei on electron microscopy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151490</a>]</span><br />
</span>
</div>
</div>
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<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Psychomotor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>]</span><br /> -
Mental retardation, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861865</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
Limb ataxia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002070</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Cerebellar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypergonadotrophic hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370999003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370999003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span><br />
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<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the SIL1 nucleotide exchange factor gene (SIL1, <a href="/entry/608005#0001">608005.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Marinesco-Sjogren syndrome (MSS) is caused by homozygous or compound heterozygous mutation in the SIL1 gene (<a href="/entry/608005">608005</a>) on chromosome 5q31.</p>
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<strong>Description</strong>
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<p>Marinesco-Sjogren syndrome (MSS) is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN; <a href="/entry/604168">604168</a>), which is caused by mutation in the CTDP1 gene (<a href="/entry/604927">604927</a>) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN (<a href="#17" class="mim-tip-reference" title="Lagier-Tourenne, C., Tranebjaerg, L., Chaigne, D., Gribaa, M., Dollfus, H., Silvestri, G., Betard, C., Warter, J. M., Koenig, M. &lt;strong&gt;Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31.&lt;/strong&gt; Europ. J. Hum. Genet. 11: 770-778, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14512967/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14512967&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201068&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14512967">Lagier-Tourenne et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14512967" 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>Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation are the cardinal features of MSS. <a href="#2" class="mim-tip-reference" title="Alter, M., Talbert, O. R., Croffead, G. &lt;strong&gt;Cerebellar ataxia, congenital cataracts and retarded somatic and mental maturation: report of cases of Marinesco-Sjogren syndrome.&lt;/strong&gt; Neurology 12: 836-847, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14012309/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14012309&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.12.12.836&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14012309">Alter et al. (1962)</a> suggested the designation 'hereditary oligophrenic cerebellolental degeneration.' <a href="#11" class="mim-tip-reference" title="Garland, H., Moorhouse, D. &lt;strong&gt;An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 16: 110-116, 1953.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13053231/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13053231&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.16.2.110&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13053231">Garland and Moorhouse (1953)</a> published a striking pedigree. In a boy almost 5 years old, <a href="#32" class="mim-tip-reference" title="Todorov, A. B. &lt;strong&gt;Le syndrome de Marinesco-Sjogren: premiere etude anatomo-clinique.&lt;/strong&gt; J. Genet. Hum. 14: 197-233, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5849252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5849252&lt;/a&gt;]" pmid="5849252">Todorov (1965)</a> found the brain lesions limited almost exclusively to the cerebellum, which showed massive cortical atrophy. Many of the Purkinje cells that remained were vacuolated or binucleated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5849252+13053231+14012309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Skre, H., Berg, K. &lt;strong&gt;Linkage studies on the Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism.&lt;/strong&gt; Clin. Genet. 11: 57-66, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/830450/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;830450&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1977.tb01279.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="830450">Skre and Berg (1977)</a> observed 10 persons with Marinesco-Sjogren syndrome in 2 kindreds, 9 of whom also had hypogonadism. The observations of <a href="#35" class="mim-tip-reference" title="Wertelecki, W. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Mobile, Alabama 6/10/1986."None>Wertelecki (1986)</a> also suggested that hypergonadotropic hypogonadism is a pleiotropic manifestation of the MSS gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=830450" 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 inbred triracial (Indian, black, white) isolate in southwestern Alabama, <a href="#35" class="mim-tip-reference" title="Wertelecki, W. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Mobile, Alabama 6/10/1986."None>Wertelecki (1986)</a> found hypergonadotropic hypogonadism as a frequent feature among the many cases observed. In the same inbred group, <a href="#28" class="mim-tip-reference" title="Superneau, D. W., Wertelecki, W., Zellweger, H., Bastian, F. &lt;strong&gt;Myopathy in Marinesco-Sjogren syndrome.&lt;/strong&gt; Europ. Neurol. 26: 8-16, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3469098/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3469098&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000116305&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3469098">Superneau et al. (1987)</a> found progressive muscular weakness, hypotonia and atrophy to be among the cardinal signs. Most of the 17 patients studied had elevated serum creatine kinase (CK) levels and muscle biopsies showed myopathic changes. Conspicuous myopathy was present in 2 young children, indicating that myopathy is an early sign. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3469098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Walker, P. D., Blitzer, M. G., Shapira, E. &lt;strong&gt;Marinesco-Sjogren syndrome: evidence for a lysosomal storage disorder.&lt;/strong&gt; Neurology 35: 415-419, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3974903/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3974903&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.35.3.415&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3974903">Walker et al. (1985)</a> suggested that MSS may be a lysosomal storage disorder. In 4 patients from 2 different families and ethnic groups, they found, by electron microscopy, numerous enlarged lysosomes containing whorled lamellar or amorphous inclusion bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3974903" 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="#15" class="mim-tip-reference" title="Komiyama, A., Nonaka, I., Hirayama, K. &lt;strong&gt;Muscle pathology in Marinesco-Sjogren syndrome.&lt;/strong&gt; J. Neurol. Sci. 89: 103-113, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2522540/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2522540&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(89)90010-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2522540">Komiyama et al. (1989)</a> reported that 3 of 4 adult patients in 2 families became 'nonambulant' because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical of MSS: bilateral cataracts from infancy, mental retardation, severe cerebellar atrophy, multiple skeletal abnormalities (pigeon chest, kyphoscoliosis, pes planovalgus), and hypergonadotropic hypogonadism. Electromyography showed a myopathic pattern, and serum creatine kinase was mildly elevated. Muscle biopsy showed chronic dystrophic changes. <a href="#30" class="mim-tip-reference" title="Tachi, N., Nagata, N., Wakai, S., Chiba, S. &lt;strong&gt;Congenital muscular dystrophy in Marinesco-Sjogren syndrome.&lt;/strong&gt; Pediat. Neurol. 7: 296-298, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1930423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1930423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0887-8994(91)90049-q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1930423">Tachi et al. (1991)</a> described the histologic changes in muscle in an affected 2-year-old girl. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1930423+2522540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Zimmer, C., Gosztonyi, G., Cervos-Navarro, J., v. Moers, A., Schroder, J. M. &lt;strong&gt;Neuropathy with lysosomal changes in Marinesco-Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva.&lt;/strong&gt; Neuropediatrics 23: 329-335, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1491754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1491754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1071368&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1491754">Zimmer et al. (1992)</a> described the light- and electron-microscopic findings in skeletal muscle and conjunctiva of 6 related patients. Extensive neurogenic atrophy with conspicuous groups of atrophic muscle fibers was the most prominent feature in skeletal muscle of 4 patients. Conjunctival biopsies demonstrated a marked increase in the number of lysosomes in fibroblasts. <a href="#22" class="mim-tip-reference" title="Sasaki, K., Suga, K., Tsugawa, S., Sakuma, K., Tachi, N., Chiba, S., Imamura, S. &lt;strong&gt;Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature.&lt;/strong&gt; Brain Dev. 18: 64-67, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8907346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8907346&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0387-7604(95)00088-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8907346">Sasaki et al. (1996)</a> described light- and electron-microscopic findings in the skeletal muscle of an 11-year-old boy. Electron microscopy demonstrated autophagic vacuoles with myeloid bodies and also a unique dense membranous structure associated with the nucleus which appeared not to be derived from the nuclear membrane. The authors suggested that it may be derived from the dense sarcoplasmic reticulum because of its thickness in electron density. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1491754+8907346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Farah, S., Sabry, M. A., Khuraibet, A. J., Anim, J. T., Quasrawi, B., Al-Khatam, S., Al-Busairi, W., Hussein, J. M., Khan, R. A., Al-Awadi, S. A. &lt;strong&gt;Marinesco-Sjogren syndrome in a Bedouin family.&lt;/strong&gt; Acta Neurol. Scand. 96: 387-391, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9449477/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9449477&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1997.tb00303.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9449477">Farah et al. (1997)</a> found MSS in 2 brothers in a consanguineous Bedouin family in Kuwait. The brothers were in their twenties. Both had abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. Both showed features of hypergonadotropic hypogonadism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9449477" 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="#17" class="mim-tip-reference" title="Lagier-Tourenne, C., Tranebjaerg, L., Chaigne, D., Gribaa, M., Dollfus, H., Silvestri, G., Betard, C., Warter, J. M., Koenig, M. &lt;strong&gt;Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31.&lt;/strong&gt; Europ. J. Hum. Genet. 11: 770-778, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14512967/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14512967&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201068&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14512967">Lagier-Tourenne et al. (2003)</a> reported 2 consanguineous families, of Turkish and Norwegian origin, respectively, with MSS. The sister and brother in the Turkish family were referred to a neural pediatric clinic for failure to thrive, reduced head circumference, psychomotor delay, hypotonia, and a pronounced ataxic gait and limb ataxia. Disease progression was characterized by the occurrence of bilateral cataracts operated on at 4.5 and 6.5 years of age, respectively, and of skeletal deformities secondary to severe hypotonia and muscle weakness. MRI of the brain showed isolated marked cerebellar atrophy predominantly affecting the vermis. Muscle biopsy in each case showed myopathic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14512967" 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="#27" class="mim-tip-reference" title="Slavotinek, A., Goldman, J., Weisiger, K., Kostiner, D., Golabi, M., Packman, S., Wilcox, W., Hoyme, H. E., Sherr, E. &lt;strong&gt;Marinesco-Sjogren syndrome in a male with mild dysmorphism.&lt;/strong&gt; Am. J. Med. Genet. 133A: 197-201, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15633176/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15633176&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30504&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15633176">Slavotinek et al. (2005)</a> reported the case of a 5-year-old male with cataracts, ataxia, progressive cerebellar atrophy, developmental delay, seizures, hypotonia, and sensorimotor neuropathy consistent with the diagnosis of MSS. He also had mild craniofacial dysmorphism consisting of hypertrichosis and synophrys, deep-set eyes with epicanthic folds, flat philtrum, high palate, short thumbs, and wide sandal gap between the first and second toes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15633176" 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 4 members of 2 Finnish families, <a href="#13" class="mim-tip-reference" title="Herva, R., von Wendt, L., von Wendt, G., Saukkonen, A.-L., Leisti, J. &lt;strong&gt;A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.&lt;/strong&gt; Neuropediatrics 18: 164-169, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3683758/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3683758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1052473&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3683758">Herva et al. (1987)</a> described a cerebrooculomuscular syndrome that the authors considered to be distinct from MSS. All patients had infantile hypotonia as the presenting sign. At school age, ataxia, cataract, and mental retardation became evident. CT scan showed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles. These patients were later reported by <a href="#5" class="mim-tip-reference" title="Anttonen, A.-K., Mahjneh, I., Hamalainen, R. H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.-E. &lt;strong&gt;The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.&lt;/strong&gt; Nature Genet. 37: 1309-1311, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1677&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282978">Anttonen et al. (2005)</a> to have MSS (<a href="#7" class="mim-tip-reference" title="Anttonen, A.-K. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Hensinki, Finland 3/15/2006."None>Anttonen, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16282978+3683758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Anttonen, A.-K., Mahjneh, I., Hamalainen, R. H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.-E. &lt;strong&gt;The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.&lt;/strong&gt; Nature Genet. 37: 1309-1311, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1677&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282978">Anttonen et al. (2005)</a> summarized the clinical features of typical MSS. Cerebellar ataxia due to cerebellar atrophy with Purkinje and granule cell loss is a hallmark of MSS. The myopathy is characterized by marked muscle replacement with fat and connective tissue, variation in fiber size, atrophic and necrotic myofibers, rimmed vacuoles, and autophagic vacuoles with membranous whorls on electron microscopy. Other cardinal features include bilateral cataracts, hypergonadotropic hypogonadism, and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus, and nystagmus are frequent findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16282978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Hasegawa, S., Imai, K., Yoshida, K., Okuno, Y., Muramatsu, H., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Kojima, S., Ogawa, S., Morio, T., Mizutani, S., Takagi, M. &lt;strong&gt;Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.&lt;/strong&gt; J. Neurol. Sci. 340: 86-90, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24631270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24631270&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jns.2014.02.033&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24631270">Hasegawa et al. (2014)</a> reported a 14-month-old Japanese boy with MSS. He had mild global developmental delay, nystagmus, cerebellar atrophy, and low serum IgG and IgA in the absence of opportunistic or recurrent infections. Whole-exome sequencing identified a homozygous truncating mutation in the SIL1 gene (<a href="/entry/608005#0008">608005.0008</a>). Studies of patient-derived lymphoblastoid cells showed markedly decreased SIL1 expression as well as increased phosphorylation of EIF2A (<a href="/entry/609234">609234</a>), indicating increased ER stress, which <a href="#12" class="mim-tip-reference" title="Hasegawa, S., Imai, K., Yoshida, K., Okuno, Y., Muramatsu, H., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Kojima, S., Ogawa, S., Morio, T., Mizutani, S., Takagi, M. &lt;strong&gt;Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.&lt;/strong&gt; J. Neurol. Sci. 340: 86-90, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24631270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24631270&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jns.2014.02.033&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24631270">Hasegawa et al. (2014)</a> postulated may have hampered proper assembly of immunoglobulins in the ER. The patient was part of a cohort of 9 individuals with neurodegenerative features and hypogammaglobulinemia who underwent whole-exome sequencing. The report illustrated that whole-exome sequencing can lead to unpredictable molecular diagnoses and unexpected clinical features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24631270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By homozygosity mapping in 2 large consanguineous families with MSS, 1 of Turkish and 1 of Norwegian origin, <a href="#17" class="mim-tip-reference" title="Lagier-Tourenne, C., Tranebjaerg, L., Chaigne, D., Gribaa, M., Dollfus, H., Silvestri, G., Betard, C., Warter, J. M., Koenig, M. &lt;strong&gt;Homozygosity mapping of Marinesco-Sjogren syndrome to 5q31.&lt;/strong&gt; Europ. J. Hum. Genet. 11: 770-778, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14512967/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14512967&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201068&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14512967">Lagier-Tourenne et al. (2003)</a> localized the MSS locus to chromosome 5q31. A maximum lod score of 2.9 for the Turkish pedigree and 5.6 for the Norwegian pedigree at theta = 0.0 was obtained for linkage with the D5S1995-D5S436 haplotype spanning a 9.3-cM interval. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14512967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MSS in the families reported by <a href="#5" class="mim-tip-reference" title="Anttonen, A.-K., Mahjneh, I., Hamalainen, R. H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.-E. &lt;strong&gt;The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.&lt;/strong&gt; Nature Genet. 37: 1309-1311, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1677&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282978">Anttonen et al. (2005)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16282978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Finnish family, <a href="#5" class="mim-tip-reference" title="Anttonen, A.-K., Mahjneh, I., Hamalainen, R. H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.-E. &lt;strong&gt;The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.&lt;/strong&gt; Nature Genet. 37: 1309-1311, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1677&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282978">Anttonen et al. (2005)</a> confirmed linkage of the disease phenotype to 5q31; meiotic and historical recombinations defined a 3.52-Mb region with a shared haplotype in Finnish individuals with MSS. Further studies narrowed the region to 1.98 Mb, which excluded the gene SAR1B, also called SARA2 (<a href="/entry/607690">607690</a>), which had been suggested as a candidate. <a href="#5" class="mim-tip-reference" title="Anttonen, A.-K., Mahjneh, I., Hamalainen, R. H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.-E. &lt;strong&gt;The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.&lt;/strong&gt; Nature Genet. 37: 1309-1311, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1677&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282978">Anttonen et al. (2005)</a> selected genes from the 1.98-Mb region for sequencing on the basis of tissue expression or predicted function. They identified a homozygous 4-nucleotide duplication, 506_509dupAAGA, in exon 6 of the SIL1 gene (<a href="/entry/608005#0001">608005.0001</a>) in all Finnish individuals with MSS. Three of the Finnish patients had previously been reported by <a href="#13" class="mim-tip-reference" title="Herva, R., von Wendt, L., von Wendt, G., Saukkonen, A.-L., Leisti, J. &lt;strong&gt;A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.&lt;/strong&gt; Neuropediatrics 18: 164-169, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3683758/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3683758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1052473&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3683758">Herva et al. (1987)</a> (<a href="#7" class="mim-tip-reference" title="Anttonen, A.-K. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Hensinki, Finland 3/15/2006."None>Anttonen, 2006</a>). Two Swedish individuals with MSS and a Finnish paternal ancestor were compound heterozygous with respect to the 506_509dupAAGA mutation and a donor splice site mutation in intron 6 (<a href="/entry/608005#0003">608005.0003</a>). In all, 4 disease-associated, predicted loss-of-function mutations were found in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5 (<a href="/entry/138120">138120</a>). These data, together with a similar spatial and temporal patterns of tissue expression of SIL1 and HSPA5, suggested that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16282978+3683758" 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="#23" class="mim-tip-reference" title="Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schoneborn, S., Blaschek, A., Wolf, N. I., Harting, I., North, K., Smith, J., and 13 others. &lt;strong&gt;Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.&lt;/strong&gt; Nature Genet. 37: 1312-1314, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282977/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282977&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1678&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282977">Senderek et al. (2005)</a> likewise used homozygosity mapping in 3 small consanguineous families with typical MSS to narrow a critical linkage region on 5q31 and identified 9 distinct mutations in SIL1 in individuals with Marinesco-Sjogren syndrome. Genetic heterogeneity in MSS was demonstrated by their failure to observe SIL1 mutations in 4 other individuals with typical MSS. No mutations were detected in 5 patients presenting with nonclassic MSS without myopathy but presenting with rarely described features such as peripheral neuropathy, microcornea, optic atrophy, and cerebral white matter changes. <a href="#23" class="mim-tip-reference" title="Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schoneborn, S., Blaschek, A., Wolf, N. I., Harting, I., North, K., Smith, J., and 13 others. &lt;strong&gt;Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.&lt;/strong&gt; Nature Genet. 37: 1312-1314, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282977/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282977&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1678&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282977">Senderek et al. (2005)</a> defined Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggested that this organelle has a role in multisystem disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16282977" 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="#1" class="mim-tip-reference" title="Aguglia, U., Annesi, G., Pasquinelli, G., Spadafora, P., Gambardella, A., Annesi, F., Pasqua, A. A., Cavalcanti, F., Crescibene, L., Bagala, A., Bono, F., Oliveri, R. L., Valentino, P., Zappia, M., Quattrone, A. &lt;strong&gt;Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjogren syndrome.&lt;/strong&gt; Ann. Neurol. 47: 260-264, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10665502/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10665502&lt;/a&gt;]" pmid="10665502">Aguglia et al. (2000)</a> reported 2 Italian brothers who had MSS and chylomicron retention disease (CMRD; <a href="/entry/246700">246700</a>). In these patients, <a href="#14" class="mim-tip-reference" title="Jones, B., Jones, E. L., Bonney, S. A., Patel, H. N., Mensenkamp, A. R., Eichenbaum-Voline, S., Rudling, M., Myrdal, U., Annesi, G., Naik, S., Meadows, N., Quattrone, A., and 9 others. &lt;strong&gt;Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.&lt;/strong&gt; Nature Genet. 34: 29-31, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12692552/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12692552&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1145&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12692552">Jones et al. (2003)</a> identified a mutation in the SAR1B gene (<a href="/entry/607690#0006">607690.0006</a>), responsible for CMRD, and <a href="#4" class="mim-tip-reference" title="Annesi, G., Aguglia, U., Tarantino, P., Annesi, F., De Marco, E. V., Civitelli, D., Torroni, A., Quattrone, A. &lt;strong&gt;SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention disease. (Letter)&lt;/strong&gt; Clin. Genet. 71: 288-289, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17309654/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17309654&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00759.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17309654">Annesi et al. (2007)</a> identified a mutation in the SIL1 gene (<a href="/entry/608005#0004">608005.0004</a>), responsible for MSS. The findings indicated that the patients had 2 distinct diseases due to mutations in 2 different genes, rather than defects in a single gene leading to both disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12692552+10665502+17309654" 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 affected members of 5 families with Marinesco-Sjogren syndrome. <a href="#6" class="mim-tip-reference" title="Anttonen, A.-K., Siintola, E., Tranebjaerg, L., Iwata, N. K., Bijlsma, E. K., Meguro, H., Ichikawa, Y., Goto, J., Kopra, O., Lehesjoki, A.-E. &lt;strong&gt;Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 16: 961-969, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18285827/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18285827&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2008.22&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18285827">Anttonen et al. (2008)</a> identified 4 novel homozygous mutations in the SIL1 gene (see, e.g., <a href="/entry/608005#0007">608005.0007</a> and <a href="/entry/608005#0008">608005.0008</a>). All had the classic features of cerebellar atrophy and ataxia, cataracts, mental retardation, and some form of myopathy though severity varied somewhat. In SIL1-negative patients with a similar phenotype, <a href="#6" class="mim-tip-reference" title="Anttonen, A.-K., Siintola, E., Tranebjaerg, L., Iwata, N. K., Bijlsma, E. K., Meguro, H., Ichikawa, Y., Goto, J., Kopra, O., Lehesjoki, A.-E. &lt;strong&gt;Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 16: 961-969, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18285827/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18285827&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2008.22&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18285827">Anttonen et al. (2008)</a> excluded mutations in the HSPA5 (<a href="/entry/138120">138120</a>), HYOU1 (<a href="/entry/601746">601746</a>), and AARS (<a href="/entry/601065">601065</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 Japanese sibs with Marinesco-Sjogren syndrome, <a href="#31" class="mim-tip-reference" title="Takahata, T., Yamada, K., Yamada, Y., Ono, S., Kinoshita, A., Matsuzaka, T., Yoshiura,K., Kitaoka, T. &lt;strong&gt;Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.&lt;/strong&gt; J. Hum. Genet. 55: 142-146, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20111056/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20111056&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2009.141&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20111056">Takahata et al. (2010)</a> identified compound heterozygosity for 2 deletions in the SIL1 gene: a 5-bp deletion (598delGAAGA; <a href="/entry/608005#0009">608005.0009</a>) and a 58-kb deletion (<a href="/entry/608005#0010">608005.0010</a>), both in exon 6. Each unaffected parent was heterozygous for 1 of the deletions. The 58-kb deletion was not detected by the standard PCR sequencing protocol and was only found after array comparative genomic hybridization and quantitative PCR analysis. <a href="#31" class="mim-tip-reference" title="Takahata, T., Yamada, K., Yamada, Y., Ono, S., Kinoshita, A., Matsuzaka, T., Yoshiura,K., Kitaoka, T. &lt;strong&gt;Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.&lt;/strong&gt; J. Hum. Genet. 55: 142-146, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20111056/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20111056&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2009.141&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20111056">Takahata et al. (2010)</a> suggested that some MSS patients in whom mutations are not found should be screened for larger deletions in the SIL1 gene. All 3 patients had cataracts, ataxia, hypotonia, myopathy, spasticity, mental retardation, and skeletal deformities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20111056" 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="#3" class="mim-tip-reference" title="Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M. &lt;strong&gt;Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.&lt;/strong&gt; Neurogenetics 11: 1-12, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19440741/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19440741&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-009-0196-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19440741">Anheim et al. (2010)</a> found that MSS was the fourth most common form of autosomal recessive cerebellar ataxia in a cohort of 102 patients from Alsace, France. Of 57 patients in whom a molecular diagnosis could be determined, 3 were affected by MSS. FRDA (<a href="/entry/229300">229300</a>) was the most common diagnosis, found in 36 of 57 patients, AOA2 (<a href="/entry/606002">606002</a>) was the second most common diagnosis, found in 7 patients, and ataxia-telangiectasia (AT; <a href="/entry/208900">208900</a>) was the third most common diagnosis, found in 4 patients. Ataxia-oculomotor apraxia-1 (AOA1; <a href="/entry/208920">208920</a>) was found in 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19440741" 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="#29" class="mim-tip-reference" title="Superneau, D. W., Wertelecki, W., Zellweger, H. &lt;strong&gt;The Marinesco-Sjogren syndrome described a quarter of a century before Marinesco. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 22: 647-648, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3904448/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3904448&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220331&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3904448">Superneau et al. (1985)</a> pointed to a description of this syndrome reported in the Hungarian medical literature in 1904. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3904448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Chudley, A. E. &lt;strong&gt;Genetic landmarks through philately: Georges Marinesco (1863-1938).&lt;/strong&gt; Clin. Genet. 64: 297-299, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12974734/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12974734&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.2003.00158.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12974734">Chudley (2003)</a> provided a biographic sketch of Georges Marinesco (1863-1938). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12974734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Franceschetti1966" class="mim-tip-reference" title="Franceschetti, A., Klein, D., Wildi, E., Todorov, A. &lt;strong&gt;Le syndrome de Marinesco-Sjogren: premiere verification anatomique.&lt;/strong&gt; Arch. Suisses Neur. Neurochir. Psychiat. 97: 234-240, 1966.">Franceschetti et al. (1966)</a>; <a href="#Lagier-Tourenne2002" class="mim-tip-reference" title="Lagier-Tourenne, C., Chaigne, D., Gong, J., Flori, J., Mohr, M., Ruh, D., Christmann, D., Flament, J., Mandel, J.-L., Koenig, M., Dollfus, H. &lt;strong&gt;Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome.&lt;/strong&gt; J. Med. Genet. 39: 838-843, 2002.">Lagier-Tourenne et al. (2002)</a>; <a href="#Mahloudji1972" class="mim-tip-reference" title="Mahloudji, M., Amirhakimi, G. H., Haghighi, P., Khodadoust, A. A. &lt;strong&gt;Marinesco-Sjogren syndrome: report of an autopsy.&lt;/strong&gt; Brain 95: 675-680, 1972.">Mahloudji
et al. (1972)</a>; <a href="#Marinesco1931" class="mim-tip-reference" title="Marinesco, G., Draganesco, S., Vasiliu, D. &lt;strong&gt;Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du development somato-neuro-psychique.&lt;/strong&gt; Encephale 26: 97-109, 1931.">Marinesco et al. (1931)</a>; <a href="#Merlini2002" class="mim-tip-reference" title="Merlini, L., Gooding, R., Lochmuller, H., Muller-Felber, W., Walter, M. C., Angelicheva, D., Talim, B., Hallmayer, J., Kalaydjieva, L. &lt;strong&gt;Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes.&lt;/strong&gt; Neurology 58: 231-236, 2002.">Merlini et al. (2002)</a>; <a href="#Muller-Felber1998" class="mim-tip-reference" title="Muller-Felber, W., Zafiriou, D., Scheck, R., Patzke, I., Toepfer, M., Pongratz, D. E., Walther, U. &lt;strong&gt;Marinesco-Sjogren syndrome with rhabdomyolysis: a new subtype of the disease.&lt;/strong&gt; Neuropediatrics 29: 97-101, 1998.">Muller-Felber et al. (1998)</a>; <a href="#Sjogren1947" class="mim-tip-reference" title="Sjogren, T. &lt;strong&gt;Hereditary congenital spinocerebellar ataxia combined with congenital cataract and oligophrenia.&lt;/strong&gt; Acta Psychiat. Neurol. Scand. 46 (suppl.): 286-289, 1947.">Sjogren (1947)</a>; <a href="#Sjogren1950" class="mim-tip-reference" title="Sjogren, T. &lt;strong&gt;Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia: a genetic and clinical investigation.&lt;/strong&gt; Confin. Neurol. 10: 293-308, 1950.">Sjogren (1950)</a>; <a href="#Varon2003" class="mim-tip-reference" title="Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K. K., Ambrugger, P., Reinhold, A., Morar, B., Baas, F., Kwa, M., and 14 others. &lt;strong&gt;Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.&lt;/strong&gt; Nature Genet. 35: 185-189, 2003.">Varon et
al. (2003)</a>
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<a id="Aguglia2000" class="mim-anchor"></a>
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Aguglia, U., Annesi, G., Pasquinelli, G., Spadafora, P., Gambardella, A., Annesi, F., Pasqua, A. A., Cavalcanti, F., Crescibene, L., Bagala, A., Bono, F., Oliveri, R. L., Valentino, P., Zappia, M., Quattrone, A.
<strong>Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjogren syndrome.</strong>
Ann. Neurol. 47: 260-264, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10665502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10665502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10665502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Alter1962" class="mim-anchor"></a>
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Alter, M., Talbert, O. R., Croffead, G.
<strong>Cerebellar ataxia, congenital cataracts and retarded somatic and mental maturation: report of cases of Marinesco-Sjogren syndrome.</strong>
Neurology 12: 836-847, 1962.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14012309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14012309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14012309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.12.12.836" target="_blank">Full Text</a>]
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<a id="Anheim2010" class="mim-anchor"></a>
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Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.
<strong>Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.</strong>
Neurogenetics 11: 1-12, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19440741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19440741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19440741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10048-009-0196-y" target="_blank">Full Text</a>]
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<a id="Annesi2007" class="mim-anchor"></a>
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Annesi, G., Aguglia, U., Tarantino, P., Annesi, F., De Marco, E. V., Civitelli, D., Torroni, A., Quattrone, A.
<strong>SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention disease. (Letter)</strong>
Clin. Genet. 71: 288-289, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17309654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17309654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17309654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00759.x" target="_blank">Full Text</a>]
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<a id="Anttonen2005" class="mim-anchor"></a>
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Anttonen, A.-K., Mahjneh, I., Hamalainen, R. H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.-E.
<strong>The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.</strong>
Nature Genet. 37: 1309-1311, 2005.
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[<a href="https://doi.org/10.1038/ng1677" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2003.00158.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2008-1052473" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1145" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(89)90010-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.39.11.838" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201068" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/95.4.675" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.58.2.231" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2007-973542" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0387-7604(95)00088-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1678" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01279.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30504" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000116305" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320220331" target="_blank">Full Text</a>]
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<strong>Congenital muscular dystrophy in Marinesco-Sjogren syndrome.</strong>
Pediat. Neurol. 7: 296-298, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1930423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1930423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1930423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0887-8994(91)90049-q" target="_blank">Full Text</a>]
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<a id="Takahata2010" class="mim-anchor"></a>
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Takahata, T., Yamada, K., Yamada, Y., Ono, S., Kinoshita, A., Matsuzaka, T., Yoshiura,K., Kitaoka, T.
<strong>Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.</strong>
J. Hum. Genet. 55: 142-146, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20111056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20111056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20111056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/jhg.2009.141" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
<a id="Todorov1965" class="mim-anchor"></a>
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Todorov, A. B.
<strong>Le syndrome de Marinesco-Sjogren: premiere etude anatomo-clinique.</strong>
J. Genet. Hum. 14: 197-233, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5849252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5849252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5849252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Varon2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K. K., Ambrugger, P., Reinhold, A., Morar, B., Baas, F., Kwa, M., and 14 others.
<strong>Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.</strong>
Nature Genet. 35: 185-189, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14517542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14517542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14517542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1243" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
<a id="Walker1985" class="mim-anchor"></a>
<div class="">
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Walker, P. D., Blitzer, M. G., Shapira, E.
<strong>Marinesco-Sjogren syndrome: evidence for a lysosomal storage disorder.</strong>
Neurology 35: 415-419, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974903</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3974903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.35.3.415" target="_blank">Full Text</a>]
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<a id="Wertelecki1986" class="mim-anchor"></a>
<div class="">
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Wertelecki, W.
<strong>Personal Communication.</strong>
Mobile, Alabama 6/10/1986.
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<a id="Zimmer1992" class="mim-anchor"></a>
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Zimmer, C., Gosztonyi, G., Cervos-Navarro, J., v. Moers, A., Schroder, J. M.
<strong>Neuropathy with lysosomal changes in Marinesco-Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva.</strong>
Neuropediatrics 23: 329-335, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1491754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1491754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1491754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2008-1071368" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Cassandra L. Kniffin - updated : 9/22/2014
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Cassandra L. Kniffin - updated : 4/21/2010<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 8/29/2007<br>Victor A. McKusick - updated : 12/1/2005<br>Victor A. McKusick - updated : 3/23/2005<br>Victor A. McKusick - updated : 5/21/2004<br>Victor A. McKusick - updated : 11/13/2003<br>Victor A. McKusick - updated : 11/4/2003<br>Victor A. McKusick - updated : 4/14/2003<br>Victor A. McKusick - updated : 3/9/2001<br>Victor A. McKusick - updated : 10/8/1998<br>Victor A. McKusick - updated : 4/8/1998<br>Orest Hurko - updated : 5/8/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 12/13/2022
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carol : 09/22/2014<br>ckniffin : 9/22/2014<br>carol : 9/19/2012<br>wwang : 4/29/2010<br>ckniffin : 4/21/2010<br>ckniffin : 4/21/2010<br>wwang : 3/2/2010<br>ckniffin : 3/1/2010<br>wwang : 8/28/2008<br>ckniffin : 8/19/2008<br>wwang : 9/11/2007<br>ckniffin : 8/29/2007<br>carol : 3/16/2006<br>carol : 3/16/2006<br>alopez : 12/1/2005<br>alopez : 12/1/2005<br>terry : 12/1/2005<br>tkritzer : 3/24/2005<br>terry : 3/23/2005<br>tkritzer : 5/21/2004<br>mgross : 3/17/2004<br>tkritzer : 11/19/2003<br>terry : 11/13/2003<br>tkritzer : 11/6/2003<br>terry : 11/4/2003<br>alopez : 4/15/2003<br>terry : 4/14/2003<br>carol : 2/14/2003<br>ckniffin : 2/3/2003<br>cwells : 3/30/2001<br>terry : 3/9/2001<br>carol : 10/14/1998<br>terry : 10/8/1998<br>alopez : 4/8/1998<br>terry : 3/25/1998<br>terry : 5/17/1996<br>mark : 5/8/1996<br>terry : 4/30/1996<br>davew : 6/3/1994<br>terry : 5/7/1994<br>pfoster : 4/1/1994<br>mimadm : 2/19/1994<br>carol : 2/10/1993<br>supermim : 3/17/1992
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<h3>
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<strong>#</strong> 248800
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<span class="mim-font">
MARINESCO-SJOGREN SYNDROME; MSS
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<strong>SNOMEDCT:</strong> 80734006; &nbsp;
<strong>ORPHA:</strong> 559; &nbsp;
<strong>DO:</strong> 0080195; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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5q31.2
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Marinesco-Sjogren syndrome
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248800
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Autosomal recessive
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3
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SIL1
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608005
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Marinesco-Sjogren syndrome (MSS) is caused by homozygous or compound heterozygous mutation in the SIL1 gene (608005) on chromosome 5q31.</p>
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<strong>Description</strong>
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<p>Marinesco-Sjogren syndrome (MSS) is an autosomal recessive disorder characterized primarily by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. MSS is genetically distinct from congenital cataracts, facial dysmorphism, and neuropathy (CCFDN; 604168), which is caused by mutation in the CTDP1 gene (604927) on chromosome 18q23, although the 2 disorders share some overlapping features, including congenital cataracts, delayed psychomotor development, and ataxia. The major distinguishing features are the presence of peripheral neuropathy, facial dysmorphism, and microcornea in CCFDN (Lagier-Tourenne et al., 2003). </p>
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<strong>Clinical Features</strong>
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<p>Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation are the cardinal features of MSS. Alter et al. (1962) suggested the designation 'hereditary oligophrenic cerebellolental degeneration.' Garland and Moorhouse (1953) published a striking pedigree. In a boy almost 5 years old, Todorov (1965) found the brain lesions limited almost exclusively to the cerebellum, which showed massive cortical atrophy. Many of the Purkinje cells that remained were vacuolated or binucleated. </p><p>Skre and Berg (1977) observed 10 persons with Marinesco-Sjogren syndrome in 2 kindreds, 9 of whom also had hypogonadism. The observations of Wertelecki (1986) also suggested that hypergonadotropic hypogonadism is a pleiotropic manifestation of the MSS gene. </p><p>In an inbred triracial (Indian, black, white) isolate in southwestern Alabama, Wertelecki (1986) found hypergonadotropic hypogonadism as a frequent feature among the many cases observed. In the same inbred group, Superneau et al. (1987) found progressive muscular weakness, hypotonia and atrophy to be among the cardinal signs. Most of the 17 patients studied had elevated serum creatine kinase (CK) levels and muscle biopsies showed myopathic changes. Conspicuous myopathy was present in 2 young children, indicating that myopathy is an early sign. </p><p>Walker et al. (1985) suggested that MSS may be a lysosomal storage disorder. In 4 patients from 2 different families and ethnic groups, they found, by electron microscopy, numerous enlarged lysosomes containing whorled lamellar or amorphous inclusion bodies. </p><p>Komiyama et al. (1989) reported that 3 of 4 adult patients in 2 families became 'nonambulant' because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical of MSS: bilateral cataracts from infancy, mental retardation, severe cerebellar atrophy, multiple skeletal abnormalities (pigeon chest, kyphoscoliosis, pes planovalgus), and hypergonadotropic hypogonadism. Electromyography showed a myopathic pattern, and serum creatine kinase was mildly elevated. Muscle biopsy showed chronic dystrophic changes. Tachi et al. (1991) described the histologic changes in muscle in an affected 2-year-old girl. </p><p>Zimmer et al. (1992) described the light- and electron-microscopic findings in skeletal muscle and conjunctiva of 6 related patients. Extensive neurogenic atrophy with conspicuous groups of atrophic muscle fibers was the most prominent feature in skeletal muscle of 4 patients. Conjunctival biopsies demonstrated a marked increase in the number of lysosomes in fibroblasts. Sasaki et al. (1996) described light- and electron-microscopic findings in the skeletal muscle of an 11-year-old boy. Electron microscopy demonstrated autophagic vacuoles with myeloid bodies and also a unique dense membranous structure associated with the nucleus which appeared not to be derived from the nuclear membrane. The authors suggested that it may be derived from the dense sarcoplasmic reticulum because of its thickness in electron density. </p><p>Farah et al. (1997) found MSS in 2 brothers in a consanguineous Bedouin family in Kuwait. The brothers were in their twenties. Both had abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. Both showed features of hypergonadotropic hypogonadism. </p><p>Lagier-Tourenne et al. (2003) reported 2 consanguineous families, of Turkish and Norwegian origin, respectively, with MSS. The sister and brother in the Turkish family were referred to a neural pediatric clinic for failure to thrive, reduced head circumference, psychomotor delay, hypotonia, and a pronounced ataxic gait and limb ataxia. Disease progression was characterized by the occurrence of bilateral cataracts operated on at 4.5 and 6.5 years of age, respectively, and of skeletal deformities secondary to severe hypotonia and muscle weakness. MRI of the brain showed isolated marked cerebellar atrophy predominantly affecting the vermis. Muscle biopsy in each case showed myopathic changes. </p><p>Slavotinek et al. (2005) reported the case of a 5-year-old male with cataracts, ataxia, progressive cerebellar atrophy, developmental delay, seizures, hypotonia, and sensorimotor neuropathy consistent with the diagnosis of MSS. He also had mild craniofacial dysmorphism consisting of hypertrichosis and synophrys, deep-set eyes with epicanthic folds, flat philtrum, high palate, short thumbs, and wide sandal gap between the first and second toes. </p><p>In 4 members of 2 Finnish families, Herva et al. (1987) described a cerebrooculomuscular syndrome that the authors considered to be distinct from MSS. All patients had infantile hypotonia as the presenting sign. At school age, ataxia, cataract, and mental retardation became evident. CT scan showed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles. These patients were later reported by Anttonen et al. (2005) to have MSS (Anttonen, 2006). </p><p>Anttonen et al. (2005) summarized the clinical features of typical MSS. Cerebellar ataxia due to cerebellar atrophy with Purkinje and granule cell loss is a hallmark of MSS. The myopathy is characterized by marked muscle replacement with fat and connective tissue, variation in fiber size, atrophic and necrotic myofibers, rimmed vacuoles, and autophagic vacuoles with membranous whorls on electron microscopy. Other cardinal features include bilateral cataracts, hypergonadotropic hypogonadism, and mild to severe mental retardation. Skeletal abnormalities, short stature, dysarthria, strabismus, and nystagmus are frequent findings. </p><p>Hasegawa et al. (2014) reported a 14-month-old Japanese boy with MSS. He had mild global developmental delay, nystagmus, cerebellar atrophy, and low serum IgG and IgA in the absence of opportunistic or recurrent infections. Whole-exome sequencing identified a homozygous truncating mutation in the SIL1 gene (608005.0008). Studies of patient-derived lymphoblastoid cells showed markedly decreased SIL1 expression as well as increased phosphorylation of EIF2A (609234), indicating increased ER stress, which Hasegawa et al. (2014) postulated may have hampered proper assembly of immunoglobulins in the ER. The patient was part of a cohort of 9 individuals with neurodegenerative features and hypogammaglobulinemia who underwent whole-exome sequencing. The report illustrated that whole-exome sequencing can lead to unpredictable molecular diagnoses and unexpected clinical features. </p>
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<strong>Mapping</strong>
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<p>By homozygosity mapping in 2 large consanguineous families with MSS, 1 of Turkish and 1 of Norwegian origin, Lagier-Tourenne et al. (2003) localized the MSS locus to chromosome 5q31. A maximum lod score of 2.9 for the Turkish pedigree and 5.6 for the Norwegian pedigree at theta = 0.0 was obtained for linkage with the D5S1995-D5S436 haplotype spanning a 9.3-cM interval. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MSS in the families reported by Anttonen et al. (2005) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Finnish family, Anttonen et al. (2005) confirmed linkage of the disease phenotype to 5q31; meiotic and historical recombinations defined a 3.52-Mb region with a shared haplotype in Finnish individuals with MSS. Further studies narrowed the region to 1.98 Mb, which excluded the gene SAR1B, also called SARA2 (607690), which had been suggested as a candidate. Anttonen et al. (2005) selected genes from the 1.98-Mb region for sequencing on the basis of tissue expression or predicted function. They identified a homozygous 4-nucleotide duplication, 506_509dupAAGA, in exon 6 of the SIL1 gene (608005.0001) in all Finnish individuals with MSS. Three of the Finnish patients had previously been reported by Herva et al. (1987) (Anttonen, 2006). Two Swedish individuals with MSS and a Finnish paternal ancestor were compound heterozygous with respect to the 506_509dupAAGA mutation and a donor splice site mutation in intron 6 (608005.0003). In all, 4 disease-associated, predicted loss-of-function mutations were found in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5 (138120). These data, together with a similar spatial and temporal patterns of tissue expression of SIL1 and HSPA5, suggested that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome. </p><p>Senderek et al. (2005) likewise used homozygosity mapping in 3 small consanguineous families with typical MSS to narrow a critical linkage region on 5q31 and identified 9 distinct mutations in SIL1 in individuals with Marinesco-Sjogren syndrome. Genetic heterogeneity in MSS was demonstrated by their failure to observe SIL1 mutations in 4 other individuals with typical MSS. No mutations were detected in 5 patients presenting with nonclassic MSS without myopathy but presenting with rarely described features such as peripheral neuropathy, microcornea, optic atrophy, and cerebral white matter changes. Senderek et al. (2005) defined Marinesco-Sjogren syndrome as a disease of endoplasmic reticulum dysfunction and suggested that this organelle has a role in multisystem disorders. </p><p>Aguglia et al. (2000) reported 2 Italian brothers who had MSS and chylomicron retention disease (CMRD; 246700). In these patients, Jones et al. (2003) identified a mutation in the SAR1B gene (607690.0006), responsible for CMRD, and Annesi et al. (2007) identified a mutation in the SIL1 gene (608005.0004), responsible for MSS. The findings indicated that the patients had 2 distinct diseases due to mutations in 2 different genes, rather than defects in a single gene leading to both disorders. </p><p>In affected members of 5 families with Marinesco-Sjogren syndrome. Anttonen et al. (2008) identified 4 novel homozygous mutations in the SIL1 gene (see, e.g., 608005.0007 and 608005.0008). All had the classic features of cerebellar atrophy and ataxia, cataracts, mental retardation, and some form of myopathy though severity varied somewhat. In SIL1-negative patients with a similar phenotype, Anttonen et al. (2008) excluded mutations in the HSPA5 (138120), HYOU1 (601746), and AARS (601065) genes. </p><p>In 3 Japanese sibs with Marinesco-Sjogren syndrome, Takahata et al. (2010) identified compound heterozygosity for 2 deletions in the SIL1 gene: a 5-bp deletion (598delGAAGA; 608005.0009) and a 58-kb deletion (608005.0010), both in exon 6. Each unaffected parent was heterozygous for 1 of the deletions. The 58-kb deletion was not detected by the standard PCR sequencing protocol and was only found after array comparative genomic hybridization and quantitative PCR analysis. Takahata et al. (2010) suggested that some MSS patients in whom mutations are not found should be screened for larger deletions in the SIL1 gene. All 3 patients had cataracts, ataxia, hypotonia, myopathy, spasticity, mental retardation, and skeletal deformities. </p>
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<strong>Population Genetics</strong>
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<p>Anheim et al. (2010) found that MSS was the fourth most common form of autosomal recessive cerebellar ataxia in a cohort of 102 patients from Alsace, France. Of 57 patients in whom a molecular diagnosis could be determined, 3 were affected by MSS. FRDA (229300) was the most common diagnosis, found in 36 of 57 patients, AOA2 (606002) was the second most common diagnosis, found in 7 patients, and ataxia-telangiectasia (AT; 208900) was the third most common diagnosis, found in 4 patients. Ataxia-oculomotor apraxia-1 (AOA1; 208920) was found in 3 patients. </p>
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<strong>History</strong>
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<p>Superneau et al. (1985) pointed to a description of this syndrome reported in the Hungarian medical literature in 1904. </p><p>Chudley (2003) provided a biographic sketch of Georges Marinesco (1863-1938). </p>
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<strong>See Also:</strong>
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Franceschetti et al. (1966); Lagier-Tourenne et al. (2002); Mahloudji
et al. (1972); Marinesco et al. (1931); Merlini et al. (2002);
Muller-Felber et al. (1998); Sjogren (1947); Sjogren (1950); Varon et
al. (2003)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Aguglia, U., Annesi, G., Pasquinelli, G., Spadafora, P., Gambardella, A., Annesi, F., Pasqua, A. A., Cavalcanti, F., Crescibene, L., Bagala, A., Bono, F., Oliveri, R. L., Valentino, P., Zappia, M., Quattrone, A.
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</li>
<li>
<p class="mim-text-font">
Alter, M., Talbert, O. R., Croffead, G.
<strong>Cerebellar ataxia, congenital cataracts and retarded somatic and mental maturation: report of cases of Marinesco-Sjogren syndrome.</strong>
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</p>
</li>
<li>
<p class="mim-text-font">
Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.
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Franceschetti, A., Klein, D., Wildi, E., Todorov, A.
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<p class="mim-text-font">
Garland, H., Moorhouse, D.
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</p>
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<p class="mim-text-font">
Hasegawa, S., Imai, K., Yoshida, K., Okuno, Y., Muramatsu, H., Shiraishi, Y., Chiba, K., Tanaka, H., Miyano, S., Kojima, S., Ogawa, S., Morio, T., Mizutani, S., Takagi, M.
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Herva, R., von Wendt, L., von Wendt, G., Saukkonen, A.-L., Leisti, J.
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[Full Text: https://doi.org/10.1055/s-2008-1052473]
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<p class="mim-text-font">
Jones, B., Jones, E. L., Bonney, S. A., Patel, H. N., Mensenkamp, A. R., Eichenbaum-Voline, S., Rudling, M., Myrdal, U., Annesi, G., Naik, S., Meadows, N., Quattrone, A., and 9 others.
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[PubMed: 12692552]
[Full Text: https://doi.org/10.1038/ng1145]
</p>
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<li>
<p class="mim-text-font">
Komiyama, A., Nonaka, I., Hirayama, K.
<strong>Muscle pathology in Marinesco-Sjogren syndrome.</strong>
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[PubMed: 2522540]
[Full Text: https://doi.org/10.1016/0022-510x(89)90010-5]
</p>
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<p class="mim-text-font">
Lagier-Tourenne, C., Chaigne, D., Gong, J., Flori, J., Mohr, M., Ruh, D., Christmann, D., Flament, J., Mandel, J.-L., Koenig, M., Dollfus, H.
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[PubMed: 12414825]
[Full Text: https://doi.org/10.1136/jmg.39.11.838]
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Lagier-Tourenne, C., Tranebjaerg, L., Chaigne, D., Gribaa, M., Dollfus, H., Silvestri, G., Betard, C., Warter, J. M., Koenig, M.
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[PubMed: 14512967]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201068]
</p>
</li>
<li>
<p class="mim-text-font">
Mahloudji, M., Amirhakimi, G. H., Haghighi, P., Khodadoust, A. A.
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Brain 95: 675-680, 1972.
[PubMed: 4647150]
[Full Text: https://doi.org/10.1093/brain/95.4.675]
</p>
</li>
<li>
<p class="mim-text-font">
Marinesco, G., Draganesco, S., Vasiliu, D.
<strong>Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du development somato-neuro-psychique.</strong>
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</p>
</li>
<li>
<p class="mim-text-font">
Merlini, L., Gooding, R., Lochmuller, H., Muller-Felber, W., Walter, M. C., Angelicheva, D., Talim, B., Hallmayer, J., Kalaydjieva, L.
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[PubMed: 11805249]
[Full Text: https://doi.org/10.1212/wnl.58.2.231]
</p>
</li>
<li>
<p class="mim-text-font">
Muller-Felber, W., Zafiriou, D., Scheck, R., Patzke, I., Toepfer, M., Pongratz, D. E., Walther, U.
<strong>Marinesco-Sjogren syndrome with rhabdomyolysis: a new subtype of the disease.</strong>
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[PubMed: 9638664]
[Full Text: https://doi.org/10.1055/s-2007-973542]
</p>
</li>
<li>
<p class="mim-text-font">
Sasaki, K., Suga, K., Tsugawa, S., Sakuma, K., Tachi, N., Chiba, S., Imamura, S.
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[PubMed: 8907346]
[Full Text: https://doi.org/10.1016/0387-7604(95)00088-7]
</p>
</li>
<li>
<p class="mim-text-font">
Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schoneborn, S., Blaschek, A., Wolf, N. I., Harting, I., North, K., Smith, J., and 13 others.
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[PubMed: 16282977]
[Full Text: https://doi.org/10.1038/ng1678]
</p>
</li>
<li>
<p class="mim-text-font">
Sjogren, T.
<strong>Hereditary congenital spinocerebellar ataxia combined with congenital cataract and oligophrenia.</strong>
Acta Psychiat. Neurol. Scand. 46 (suppl.): 286-289, 1947.
</p>
</li>
<li>
<p class="mim-text-font">
Sjogren, T.
<strong>Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia: a genetic and clinical investigation.</strong>
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</p>
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Skre, H., Berg, K.
<strong>Linkage studies on the Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism.</strong>
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[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb01279.x]
</p>
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Slavotinek, A., Goldman, J., Weisiger, K., Kostiner, D., Golabi, M., Packman, S., Wilcox, W., Hoyme, H. E., Sherr, E.
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</p>
</li>
<li>
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Superneau, D. W., Wertelecki, W., Zellweger, H.
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Tachi, N., Nagata, N., Wakai, S., Chiba, S.
<strong>Congenital muscular dystrophy in Marinesco-Sjogren syndrome.</strong>
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</p>
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Takahata, T., Yamada, K., Yamada, Y., Ono, S., Kinoshita, A., Matsuzaka, T., Yoshiura,K., Kitaoka, T.
<strong>Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome.</strong>
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[PubMed: 20111056]
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</p>
</li>
<li>
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Todorov, A. B.
<strong>Le syndrome de Marinesco-Sjogren: premiere etude anatomo-clinique.</strong>
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</p>
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<li>
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Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K. K., Ambrugger, P., Reinhold, A., Morar, B., Baas, F., Kwa, M., and 14 others.
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</p>
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Walker, P. D., Blitzer, M. G., Shapira, E.
<strong>Marinesco-Sjogren syndrome: evidence for a lysosomal storage disorder.</strong>
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[PubMed: 3974903]
[Full Text: https://doi.org/10.1212/wnl.35.3.415]
</p>
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<li>
<p class="mim-text-font">
Wertelecki, W.
<strong>Personal Communication.</strong>
Mobile, Alabama 6/10/1986.
</p>
</li>
<li>
<p class="mim-text-font">
Zimmer, C., Gosztonyi, G., Cervos-Navarro, J., v. Moers, A., Schroder, J. M.
<strong>Neuropathy with lysosomal changes in Marinesco-Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva.</strong>
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[PubMed: 1491754]
[Full Text: https://doi.org/10.1055/s-2008-1071368]
</p>
</li>
</ol>
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