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<title>
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Entry
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- #610951 - CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
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- OMIM
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<span class="h4">#610951</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS256730"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CEROID LIPOFUSCINOSIS, NEURONAL) OR (MFSD8)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19115&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/cln7-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228366" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110722" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/610951" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001962/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110722" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 228366<br />
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<strong>DO:</strong> 0110722<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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610951
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</span>
|
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/548?start=-3&limit=10&highlight=548">
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4q28.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ceroid lipofuscinosis, neuronal, 7
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610951"> 610951 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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MFSD8
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/611124"> 611124 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/610951" 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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
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|
|
<a href="/phenotypicSeries/PS256730" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/610951" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610951" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29555009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29555009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000479</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span><br /> -
|
|
Loss of vision, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246635007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246635007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neurodegeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027746</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span><br /> -
|
|
Delayed psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Delayed speech development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
|
|
Cognitive decline, rapid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750110</a>]</span><br /> -
|
|
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <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">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <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>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</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 /> -
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Seizures, refractory <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676167</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Myoclonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208991001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208991001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317123</a>, <a href="https://bioportal.bioontology.org/search?q=C0014550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span><br /> -
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EEG abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274521009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274521009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span><br /> -
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Sleep disorders <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39898005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39898005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0851578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0851578</a>]</span><br /> -
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Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
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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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Intracellular accumulation of material resulting in curvilinear profiles on ultrastructural analysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970432</a>]</span><br /> -
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Intracellular accumulation of material resulting in fingerprint profiles on ultrastructural analysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970433</a>]</span><br /> -
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Intracellular accumulation of material resulting in rectilinear profiles on ultrastructural analysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149960</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood (ages 1.5 to 7 years)<br /> -
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Some patients show normal development until onset of disorder<br /> -
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Rapidly progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
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Patients often become wheelchair-bound<br /> -
|
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Intracellular accumulation of material can occur in neuronal and nonneuronal cells<br /> -
|
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Intracellular accumulation of material may not always be apparent<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the major facilitator superfamily domain-containing protein-8 gene (MFSD8, <a href="/entry/611124#0001">611124.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Ceroid lipofuscinoses
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- <a href="/phenotypicSeries/PS256730">PS256730</a>
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- 15 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/484?start=-3&limit=10&highlight=484"> 1p34.2 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/256730"> Ceroid lipofuscinosis, neuronal, 1 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/256730"> 256730 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600722"> PPT1 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600722"> 600722 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
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<tr>
|
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/4/548?start=-3&limit=10&highlight=548"> 4q28.2 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610951"> Ceroid lipofuscinosis, neuronal, 7 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/610951"> 610951 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/611124"> MFSD8 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/611124"> 611124 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611726"> 611726 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/611725"> KCTD7 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611725"> 611725 </a>
|
|
</span>
|
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</td>
|
|
</tr>
|
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|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600143"> Ceroid lipofuscinosis, neuronal, 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600143"> 600143 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/607837"> CLN8 </a>
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/607837"> 607837 </a>
|
|
</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
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<span class="mim-font">
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<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/610003"> Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant </a>
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610003"> 610003 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607837"> CLN8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607837"> 607837 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/11/63?start=-3&limit=10&highlight=63"> 11p15.5 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/610127"> Ceroid lipofuscinosis, neuronal, 10 </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610127"> 610127 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116840"> CTSD </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/116840"> 116840 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
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|
<a href="/geneMap/11/136?start=-3&limit=10&highlight=136"> 11p15.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204500"> Ceroid lipofuscinosis, neuronal, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204500"> 204500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607998"> TPP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607998"> 607998 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/641?start=-3&limit=10&highlight=641"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615362"> Ceroid lipofuscinosis, neuronal, 13 (Kufs type) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615362"> 615362 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603539"> CTSF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603539"> 603539 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/231?start=-3&limit=10&highlight=231"> 13q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256731"> Ceroid lipofuscinosis, neuronal, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256731"> 256731 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608102"> CLN5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608102"> 608102 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204300"> Ceroid lipofuscinosis, neuronal, 6B (Kufs type) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204300"> 204300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> CLN6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> 606725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601780"> Ceroid lipofuscinosis, neuronal, 6A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601780"> 601780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> CLN6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> 606725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/301?start=-3&limit=10&highlight=301"> 16p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204200"> Ceroid lipofuscinosis, neuronal, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204200"> 204200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607042"> CLN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607042"> 607042 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/638?start=-3&limit=10&highlight=638"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614706"> Ceroid lipofuscinosis, neuronal, 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614706"> 614706 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138945"> GRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138945"> 138945 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/487?start=-3&limit=10&highlight=487"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162350"> Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162350"> 162350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611203"> DNAJC5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611203"> 611203 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609055"> Ceroid lipofuscinosis, neuronal, 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609055"> 609055 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609055"> CLN9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609055"> 609055 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-7 (CLN7) is caused by homozygous or compound heterozygous mutation in the MFSD8 gene (<a href="/entry/611124">611124</a>), which encodes a putative lysosomal transporter, on chromosome 4q28.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by <a href="#6" class="mim-tip-reference" title="Mole, S. E., Williams, R. E., Goebel, H. H. <strong>Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.</strong> Neurogenetics 6: 107-126, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15965709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15965709</a>] [<a href="https://doi.org/10.1007/s10048-005-0218-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15965709">Mole et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15965709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (<a href="/entry/256730">256730</a>).</p>
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<p><a href="#11" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a> reported the so-called Turkish variant of late-infantile CLN in 17 of 28 Turkish patients. Most of the families were consanguineous. The mean age at disease onset was 5.1 years (range, 2 to 7 years), with seizures or motor impairment as the most common presenting symptom. As the disease progressed, mental regression, myoclonus, speech impairment, loss of vision, and personality disorders developed, and most of the patients became nonambulatory within 2 years after onset. The features distinguishing the Turkish variant from CLN2 and CLN3 included a more severe course regarding seizures, the presence of condensed fingerprint profiles on electron microscopic examination of lymphocytes, and lack of vacuolated lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15074367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Mole, S. E., Williams, R. E., Goebel, H. H. <strong>Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.</strong> Neurogenetics 6: 107-126, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15965709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15965709</a>] [<a href="https://doi.org/10.1007/s10048-005-0218-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15965709">Mole et al. (2005)</a> stated that the clinical phenotype of CLN7 is considered to be the same as that in Turkish patients with CLN8 (<a href="/entry/600143">600143</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15965709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Stogmann, E., El Tawil, S., Wagenstaller, J., Gaber, A., Edris, S., Abdelhady, A., Assem-Hilger, E., Leutmezer, F., Bonelli, S., Baumgartner, C., Zimprich, F., Strom, T. M., Zimprich, A. <strong>A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.</strong> Neurogenetics 10: 73-77, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18850119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18850119</a>] [<a href="https://doi.org/10.1007/s10048-008-0153-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18850119">Stogmann et al. (2009)</a> reported a consanguineous Egyptian family in which 5 members had late-infantile CLN. The average age at onset was 5 years, and all patients presented with seizures, including complex partial, secondary generalized tonic-clonic, and myoclonic jerks. All showed gradual deterioration and loss of psychomotor skills about 1 year after the seizures started. Three patients showed aggressive behavior, memory impairment, and language abnormalities with substantial loss of speech function. The disorder was progressive, with motor impairment ultimately resulting in disability of sitting and walking and eventual bedridden status. Two patients died at age 13 years. One patients developed extrapyramidal signs, including axial rigidity, hesitation in initiation of movement, and coarse postural tremor, and also showed frontal manifestations including bilateral positive grasp, paratonia, and positive snout reflexes. None of the patients had visual impairment. Skin biopsies were not informative, likely due to lack of proper sampling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18850119" 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="#2" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Hassnan, Z. N., Aldosari, M., Alkuraya, F. S. <strong>Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.</strong> Neurogenetics 10: 307-311, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19277732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19277732</a>] [<a href="https://doi.org/10.1007/s10048-009-0185-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19277732">Aldahmesh et al. (2009)</a> reported a consanguineous Saudi family in which 3 individuals had variant late infantile-onset NCL. The proband developed poor vision at age 6 years and had onset of focal seizures with secondary generalization 1 year later. His vision deteriorated to blindness by age 7.5, and he had declining cognitive function. By age 10, he had minimal verbal communication and retinitis pigmentosa. There was no evidence of ultrastructural deposits of NCL on conjunctival biopsy. Brain MRI showed atrophic changes which were more in the occipital lobe. A 14-year-old brother and an 18-year-old half-sister had a similar presentation, with onset of poor vision around age 7 years, progression to blindness, seizures, and cognitive decline. The 14-year-old brother had a rapidly progressive course and has been in a vegetative state since age 11. The 18-year-old half-sister has significant impairment of cognitive functions comparable to the index case and intractable seizures. Her EEG showed diffuse slowing with frequent, multifocal sharp waves. <a href="#2" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Hassnan, Z. N., Aldosari, M., Alkuraya, F. S. <strong>Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.</strong> Neurogenetics 10: 307-311, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19277732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19277732</a>] [<a href="https://doi.org/10.1007/s10048-009-0185-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19277732">Aldahmesh et al. (2009)</a> commented that the phenotype in this family was similar to that reported in other patients with this form of CLN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19277732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., Lehesjoki, A.-E. <strong>Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.</strong> Brain 132: 810-819, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19201763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19201763</a>] [<a href="https://doi.org/10.1093/brain/awn366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19201763">Kousi et al. (2009)</a> reported a Dutch patient with a protracted course of CLN7. The patient presented at age 11 years with visual failure. He had motor impairment and seizures in his mid-twenties, followed by mental and speech regression in his thirties, and loss of independent ambulation at age 39. Genetic analysis identified a homozygous mutation in the MFSD8 gene (A157P; <a href="/entry/611124#0007">611124.0007</a>) that resulted in the substitution of a neutral nonpolar alanine with a neutral nonpolar proline. <a href="#5" class="mim-tip-reference" title="Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., Lehesjoki, A.-E. <strong>Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.</strong> Brain 132: 810-819, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19201763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19201763</a>] [<a href="https://doi.org/10.1093/brain/awn366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19201763">Kousi et al. (2009)</a> postulated that the mild impact of the mutation on amino acid substitution may have contributed to the later onset and milder course of the disorder in this patient. Importantly, patients with later onset of CLN should still be considered to have mutations in the MFSD8 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19201763" 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="#4" class="mim-tip-reference" title="Kim, J., Hu, C., Moufawad El Achkar, C., Black, L. E., Douville, J., Larson, A., Pendergast, M. K., Goldkind, S. F., Lee, E. A., Kuniholm, A., Soucy, A., Vaze, J., and 36 others. <strong>Patient-customized oligonucleotide therapy for a rare genetic disease.</strong> New Eng. J. Med. 381: 1644-1652, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31597037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31597037</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31597037[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1813279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31597037">Kim et al. (2019)</a> reported the development and use of a patient-specific antisense oligonucleotide (ASO) drug, milasen, to treat a patient with CLN7. From diagnosis to initiation of therapy took just under a year, during which the patient continued to lose skills. Nevertheless, after starting intrathecal injection of escalating doses of the ASO, the patient experienced a decrease in frequency and duration of seizures. There were no significant adverse events. This study provided a template for and showed the feasibility of rapid development of patient-customized treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31597037" 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="#12" class="mim-tip-reference" title="Wheeler, R. B., Sharp, J. D., Mitchell, W. A., Bate, S. L., Williams, R. E., Lake, B. D., Gardiner, R. M. <strong>A new locus for variant late neuronal ceroid lipofuscinosis--CLN7.</strong> Molec. Genet. Metab. 66: 337-338, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10191125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10191125</a>] [<a href="https://doi.org/10.1006/mgme.1999.2804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10191125">Wheeler et al. (1999)</a> referred to a group of patients with the so-called Turkish variant of late-onset infantile CLN as having CLN7. Although some of these patients have been found to carry mutations in the CLN8 (<a href="/entry/607837">607837</a>) or CLN6 (<a href="/entry/606725">606725</a>) genes, the underlying molecular defect in other Turkish patients had not been determined. <a href="#7" class="mim-tip-reference" title="Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E. <strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong> Hum. Mutat. 23: 300-305, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>] [<a href="https://doi.org/10.1002/humu.20018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024724">Ranta et al. (2004)</a> and <a href="#9" class="mim-tip-reference" title="Siintola, E., Topcu, M., Kohlschutter, A., Salonen, T., Joensuu, T., Anttonen, A.-K., Lehesjoki, A.-E. <strong>Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.</strong> Clin. Genet. 68: 167-173, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15996215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15996215</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00471.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15996215">Siintola et al. (2005)</a> excluded 7 Turkish families with late-onset infantile CLN from all known CLN loci, including CLN8; these patients had previously been reported by <a href="#11" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a>. <a href="#9" class="mim-tip-reference" title="Siintola, E., Topcu, M., Kohlschutter, A., Salonen, T., Joensuu, T., Anttonen, A.-K., Lehesjoki, A.-E. <strong>Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.</strong> Clin. Genet. 68: 167-173, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15996215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15996215</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00471.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15996215">Siintola et al. (2005)</a> concluded that these Turkish families may still represent a distinct genetic entity, CLN7. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15074367+15996215+10191125+15024724" 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="Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., Lehesjoki, A.-E. <strong>The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.</strong> Am. J. Hum. Genet. 81: 136-146, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17564970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17564970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17564970[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17564970">Siintola et al. (2007)</a> performed a genomewide scan with SNP markers and homozygosity mapping in 9 Turkish families, including the families reported by <a href="#11" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a> and 1 Indian family who were not linked to any known NCL locus, and mapped a variant late infantile-onset NCL (vLINCL) locus to chromosome 4q28.1-q28.2 in 5 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15074367+17564970" 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 vLINCL in the families reported by <a href="#8" class="mim-tip-reference" title="Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., Lehesjoki, A.-E. <strong>The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.</strong> Am. J. Hum. Genet. 81: 136-146, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17564970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17564970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17564970[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17564970">Siintola et al. (2007)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17564970" 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 6 families with vLINCL, 5 of them Turkish families reported by <a href="#11" class="mim-tip-reference" title="Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S. <strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong> Turk. J. Pediat. 46: 1-10, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>]" pmid="15074367">Topcu et al. (2004)</a>, <a href="#8" class="mim-tip-reference" title="Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., Lehesjoki, A.-E. <strong>The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.</strong> Am. J. Hum. Genet. 81: 136-146, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17564970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17564970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17564970[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/518902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17564970">Siintola et al. (2007)</a> identified 6 different homozygous mutations in the MFSD8 gene (see, e.g., <a href="/entry/611124#0001">611124.0001</a>-<a href="/entry/611124#0003">611124.0003</a> and <a href="/entry/611124#0010">611124.0010</a>). MFSD8 belongs to the major facilitator superfamily of transporter proteins and is expressed ubiquitously, with several alternatively spliced variants. Like the majority of the previously reported NCL proteins, MFSD8 localizes mainly to the lysosomal compartment. Analysis of the genome-scan data suggested the existence of at least 3 more genes in the remaining 5 families, further corroborating the great genetic heterogeneity of LINCLs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15074367+17564970" 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 individuals of a consanguineous Egyptian family with CLN7, <a href="#10" class="mim-tip-reference" title="Stogmann, E., El Tawil, S., Wagenstaller, J., Gaber, A., Edris, S., Abdelhady, A., Assem-Hilger, E., Leutmezer, F., Bonelli, S., Baumgartner, C., Zimprich, F., Strom, T. M., Zimprich, A. <strong>A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.</strong> Neurogenetics 10: 73-77, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18850119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18850119</a>] [<a href="https://doi.org/10.1007/s10048-008-0153-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18850119">Stogmann et al. (2009)</a> identified a homozygous mutation in the MFSD8 gene (Y121C; <a href="/entry/611124#0004">611124.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18850119" 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 affected individuals of a consanguineous Saudi family with CLN7, <a href="#2" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Hassnan, Z. N., Aldosari, M., Alkuraya, F. S. <strong>Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.</strong> Neurogenetics 10: 307-311, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19277732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19277732</a>] [<a href="https://doi.org/10.1007/s10048-009-0185-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19277732">Aldahmesh et al. (2009)</a> identified a homozygous mutation in the MFSD8 gene (P412L; <a href="/entry/611124#0005">611124.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19277732" 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 32 of 80 patients from 75 families with late-infantile onset CLN, <a href="#5" class="mim-tip-reference" title="Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., Lehesjoki, A.-E. <strong>Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.</strong> Brain 132: 810-819, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19201763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19201763</a>] [<a href="https://doi.org/10.1093/brain/awn366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19201763">Kousi et al. (2009)</a> identified 10 mutations in the MFSD8 gene, including 8 novel mutations (see, e.g., <a href="/entry/611124#0006">611124.0006</a>-<a href="/entry/611124#0007">611124.0007</a>). Although most of the patients were of Turkish origin, many were from other regions, including India, the Netherlands, Italy, and Czech Republic. The phenotype was mostly homogeneous, with onset between 1.5 and 5 years, developmental regression, seizures, mental and motor regression, speech impairments, ataxia, visual failure, and myoclonus. Most of the mutations were private, found only in a single family. However, all known CLN loci were excluded in Turkish patients from 35 families with late-infantile onset of CLN, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19201763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 9 (39%) of 23 children with late infantile-onset CLN, 22 of Italian origin and 1 from the southeast of France, who were negative for mutation in known CLN-associated genes, <a href="#1" class="mim-tip-reference" title="Aiello, C., Terracciano, A., Simonati, A., Discepoli, G., Cannelli, N., Claps, D., Crow, Y. J., Bianchi, M., Kitzmuller, C., Longo, D., Tavoni, A., Franzoni, E., and 10 others. <strong>Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.</strong> Hum. Mutat. 30: E530-E540, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19177532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19177532</a>] [<a href="https://doi.org/10.1002/humu.20975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19177532">Aiello et al. (2009)</a> identified homozygosity or compound heterozygosity for pathogenic mutations in MFSD8 (see, e.g., <a href="/entry/611124#0001">611124.0001</a>, <a href="/entry/611124#0009">611124.0009</a>, and <a href="/entry/611124#0011">611124.0011</a>-<a href="/entry/611124#0012">611124.0012</a>). Mutation-positive patients were characterized by early psychomotor regression and seizures, with 7 of 9 developing mental regression, personality disorders, and speech impairment within 3 to 4 years after onset, and 4 becoming unable to walk unaided within 2 years. In 14 of the patients, <a href="#1" class="mim-tip-reference" title="Aiello, C., Terracciano, A., Simonati, A., Discepoli, G., Cannelli, N., Claps, D., Crow, Y. J., Bianchi, M., Kitzmuller, C., Longo, D., Tavoni, A., Franzoni, E., and 10 others. <strong>Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.</strong> Hum. Mutat. 30: E530-E540, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19177532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19177532</a>] [<a href="https://doi.org/10.1002/humu.20975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19177532">Aiello et al. (2009)</a> found no mutations in any of the known CLN-causing genes, suggesting further genetic heterogeneity of vLINCL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19177532" 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="#5" class="mim-tip-reference" title="Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., Lehesjoki, A.-E. <strong>Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.</strong> Brain 132: 810-819, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19201763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19201763</a>] [<a href="https://doi.org/10.1093/brain/awn366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19201763">Kousi et al. (2009)</a> identified a homozygous mutation in the MFSD8 gene (T294K; <a href="/entry/611124#0006">611124.0006</a>) in 14 Roma patients from 12 families with CLN7 from the former Czechoslovakia. The phenotype was characterized by late-infantile onset, developmental regression, seizures, visual failure, and ataxia. Haplotype analysis was consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19201763" 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="Ashwini, A., D'Angelo, A., Yamato, O., Giordano, C., Cagnotti, G., Harcourt-Brown, T., Mhlanga-Mutangadura, T., Guo, J., Johnson, G. S., Katz, M. L. <strong>Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.</strong> Molec. Genet. Metab. 118: 326-332, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27211611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27211611</a>] [<a href="https://doi.org/10.1016/j.ymgme.2016.05.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27211611">Ashwini et al. (2016)</a> performed neurologic evaluations on 4 unrelated client-owned Chihuahua dogs from Japan, Italy, and England that exhibited progressive neurologic signs consistent with a diagnosis of NCL. Brain and in some cases also retinal and heart tissues were examined postmortem for the presence of lysosomal storage bodies characteristic of NCL. The affected dogs exhibited massive accumulation of autofluorescent lysosomal storage bodies in the brain, retina, and heart accompanied by brain atrophy and retinal degeneration. The dogs were screened for known canine NCL mutations that had been reported in a variety of dog breeds. All 4 dogs were homozygous for the MFSD8 single-basepair deletion (c.843delT) previously associated with NCL in a Chinese Crested dog and in 2 affected littermate Chihuahuas from Scotland. The dogs were all homozygous for the normal alleles at the other genetic loci known to cause different forms of canine NCL. The MFSD8 c.843delT mutation was not present in 57 Chihuahuas that were either clinically normal or suffered from unrelated diseases or in 1761 unaffected dogs representing 186 other breeds. Based on these data <a href="#3" class="mim-tip-reference" title="Ashwini, A., D'Angelo, A., Yamato, O., Giordano, C., Cagnotti, G., Harcourt-Brown, T., Mhlanga-Mutangadura, T., Guo, J., Johnson, G. S., Katz, M. L. <strong>Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.</strong> Molec. Genet. Metab. 118: 326-332, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27211611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27211611</a>] [<a href="https://doi.org/10.1016/j.ymgme.2016.05.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27211611">Ashwini et al. (2016)</a> considered it almost certain that the MFSD8 c.843delT mutation is the cause of NCL in Chihuahuas. Because the disorder occurred in widely separated geographic locations or in unrelated dogs from the same country, it is likely that the mutant allele is widespread among Chihuahuas. <a href="#3" class="mim-tip-reference" title="Ashwini, A., D'Angelo, A., Yamato, O., Giordano, C., Cagnotti, G., Harcourt-Brown, T., Mhlanga-Mutangadura, T., Guo, J., Johnson, G. S., Katz, M. L. <strong>Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.</strong> Molec. Genet. Metab. 118: 326-332, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27211611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27211611</a>] [<a href="https://doi.org/10.1016/j.ymgme.2016.05.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27211611">Ashwini et al. (2016)</a> suggested that genetic testing for this mutation in other Chihuahuas is therefore likely to identify intact dogs with the mutant allele that could be used to establish a research colony that could be used to test potential therapeutic interventions for the corresponding human disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27211611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19277732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19277732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19277732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.</strong>
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Molec. Genet. Metab. 118: 326-332, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27211611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27211611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27211611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2016.05.008" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Kim2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, J., Hu, C., Moufawad El Achkar, C., Black, L. E., Douville, J., Larson, A., Pendergast, M. K., Goldkind, S. F., Lee, E. A., Kuniholm, A., Soucy, A., Vaze, J., and 36 others.
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<strong>Patient-customized oligonucleotide therapy for a rare genetic disease.</strong>
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New Eng. J. Med. 381: 1644-1652, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31597037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31597037</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31597037[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31597037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa1813279" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Kousi2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., Lehesjoki, A.-E.
|
|
<strong>Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.</strong>
|
|
Brain 132: 810-819, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19201763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19201763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19201763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awn366" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Mole2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mole, S. E., Williams, R. E., Goebel, H. H.
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<strong>Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.</strong>
|
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Neurogenetics 6: 107-126, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15965709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15965709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15965709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-005-0218-3" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Ranta2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E.
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<strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong>
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Hum. Mutat. 23: 300-305, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15024724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20018" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Siintola2007" class="mim-anchor"></a>
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<div class="">
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Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., Lehesjoki, A.-E.
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<strong>The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.</strong>
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Am. J. Hum. Genet. 81: 136-146, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17564970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17564970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17564970[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17564970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/518902" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Siintola2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Siintola, E., Topcu, M., Kohlschutter, A., Salonen, T., Joensuu, T., Anttonen, A.-K., Lehesjoki, A.-E.
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<strong>Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.</strong>
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Clin. Genet. 68: 167-173, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15996215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15996215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15996215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2005.00471.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Stogmann2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stogmann, E., El Tawil, S., Wagenstaller, J., Gaber, A., Edris, S., Abdelhady, A., Assem-Hilger, E., Leutmezer, F., Bonelli, S., Baumgartner, C., Zimprich, F., Strom, T. M., Zimprich, A.
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<strong>A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.</strong>
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Neurogenetics 10: 73-77, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18850119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18850119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18850119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-008-0153-1" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Topcu2004" class="mim-anchor"></a>
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Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S.
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<strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong>
|
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Turk. J. Pediat. 46: 1-10, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15074367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15074367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15074367" 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="12" class="mim-anchor"></a>
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<a id="Wheeler1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wheeler, R. B., Sharp, J. D., Mitchell, W. A., Bate, S. L., Williams, R. E., Lake, B. D., Gardiner, R. M.
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<strong>A new locus for variant late neuronal ceroid lipofuscinosis--CLN7.</strong>
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Molec. Genet. Metab. 66: 337-338, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10191125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10191125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10191125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mgme.1999.2804" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 04/01/2020
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/08/2016<br>Marla J. F. O'Neill - updated : 1/7/2015<br>Cassandra L. Kniffin - updated : 3/17/2010<br>Cassandra L. Kniffin - updated : 3/25/2009<br>Victor A. McKusick - updated : 6/19/2007
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<span class="mim-text-font">
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Cassandra L. Kniffin : 4/20/2007
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 09/03/2024
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<span class="mim-text-font">
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carol : 03/19/2024<br>alopez : 04/01/2020<br>alopez : 12/08/2016<br>carol : 10/19/2016<br>carol : 01/08/2015<br>mcolton : 1/7/2015<br>alopez : 6/19/2012<br>wwang : 3/24/2010<br>ckniffin : 3/17/2010<br>wwang : 12/28/2009<br>ckniffin : 12/10/2009<br>wwang : 11/17/2009<br>wwang : 4/10/2009<br>ckniffin : 3/25/2009<br>alopez : 6/20/2007<br>terry : 6/19/2007<br>ckniffin : 4/20/2007
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<span class="mim-font">
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<strong>#</strong> 610951
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<h3>
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<span class="mim-font">
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CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
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<strong>ORPHA:</strong> 228366;
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<strong>DO:</strong> 0110722;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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4q28.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ceroid lipofuscinosis, neuronal, 7
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</span>
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</td>
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<td>
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<span class="mim-font">
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610951
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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MFSD8
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</span>
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</td>
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<td>
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<span class="mim-font">
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611124
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</span>
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</td>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-7 (CLN7) is caused by homozygous or compound heterozygous mutation in the MFSD8 gene (611124), which encodes a putative lysosomal transporter, on chromosome 4q28.</p>
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<strong>Description</strong>
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<p>The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Topcu et al. (2004) reported the so-called Turkish variant of late-infantile CLN in 17 of 28 Turkish patients. Most of the families were consanguineous. The mean age at disease onset was 5.1 years (range, 2 to 7 years), with seizures or motor impairment as the most common presenting symptom. As the disease progressed, mental regression, myoclonus, speech impairment, loss of vision, and personality disorders developed, and most of the patients became nonambulatory within 2 years after onset. The features distinguishing the Turkish variant from CLN2 and CLN3 included a more severe course regarding seizures, the presence of condensed fingerprint profiles on electron microscopic examination of lymphocytes, and lack of vacuolated lymphocytes. </p><p>Mole et al. (2005) stated that the clinical phenotype of CLN7 is considered to be the same as that in Turkish patients with CLN8 (600143). </p><p>Stogmann et al. (2009) reported a consanguineous Egyptian family in which 5 members had late-infantile CLN. The average age at onset was 5 years, and all patients presented with seizures, including complex partial, secondary generalized tonic-clonic, and myoclonic jerks. All showed gradual deterioration and loss of psychomotor skills about 1 year after the seizures started. Three patients showed aggressive behavior, memory impairment, and language abnormalities with substantial loss of speech function. The disorder was progressive, with motor impairment ultimately resulting in disability of sitting and walking and eventual bedridden status. Two patients died at age 13 years. One patients developed extrapyramidal signs, including axial rigidity, hesitation in initiation of movement, and coarse postural tremor, and also showed frontal manifestations including bilateral positive grasp, paratonia, and positive snout reflexes. None of the patients had visual impairment. Skin biopsies were not informative, likely due to lack of proper sampling. </p><p>Aldahmesh et al. (2009) reported a consanguineous Saudi family in which 3 individuals had variant late infantile-onset NCL. The proband developed poor vision at age 6 years and had onset of focal seizures with secondary generalization 1 year later. His vision deteriorated to blindness by age 7.5, and he had declining cognitive function. By age 10, he had minimal verbal communication and retinitis pigmentosa. There was no evidence of ultrastructural deposits of NCL on conjunctival biopsy. Brain MRI showed atrophic changes which were more in the occipital lobe. A 14-year-old brother and an 18-year-old half-sister had a similar presentation, with onset of poor vision around age 7 years, progression to blindness, seizures, and cognitive decline. The 14-year-old brother had a rapidly progressive course and has been in a vegetative state since age 11. The 18-year-old half-sister has significant impairment of cognitive functions comparable to the index case and intractable seizures. Her EEG showed diffuse slowing with frequent, multifocal sharp waves. Aldahmesh et al. (2009) commented that the phenotype in this family was similar to that reported in other patients with this form of CLN. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Kousi et al. (2009) reported a Dutch patient with a protracted course of CLN7. The patient presented at age 11 years with visual failure. He had motor impairment and seizures in his mid-twenties, followed by mental and speech regression in his thirties, and loss of independent ambulation at age 39. Genetic analysis identified a homozygous mutation in the MFSD8 gene (A157P; 611124.0007) that resulted in the substitution of a neutral nonpolar alanine with a neutral nonpolar proline. Kousi et al. (2009) postulated that the mild impact of the mutation on amino acid substitution may have contributed to the later onset and milder course of the disorder in this patient. Importantly, patients with later onset of CLN should still be considered to have mutations in the MFSD8 gene. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</h4>
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<span class="mim-text-font">
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<p>Kim et al. (2019) reported the development and use of a patient-specific antisense oligonucleotide (ASO) drug, milasen, to treat a patient with CLN7. From diagnosis to initiation of therapy took just under a year, during which the patient continued to lose skills. Nevertheless, after starting intrathecal injection of escalating doses of the ASO, the patient experienced a decrease in frequency and duration of seizures. There were no significant adverse events. This study provided a template for and showed the feasibility of rapid development of patient-customized treatment. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Wheeler et al. (1999) referred to a group of patients with the so-called Turkish variant of late-onset infantile CLN as having CLN7. Although some of these patients have been found to carry mutations in the CLN8 (607837) or CLN6 (606725) genes, the underlying molecular defect in other Turkish patients had not been determined. Ranta et al. (2004) and Siintola et al. (2005) excluded 7 Turkish families with late-onset infantile CLN from all known CLN loci, including CLN8; these patients had previously been reported by Topcu et al. (2004). Siintola et al. (2005) concluded that these Turkish families may still represent a distinct genetic entity, CLN7. </p><p>Siintola et al. (2007) performed a genomewide scan with SNP markers and homozygosity mapping in 9 Turkish families, including the families reported by Topcu et al. (2004) and 1 Indian family who were not linked to any known NCL locus, and mapped a variant late infantile-onset NCL (vLINCL) locus to chromosome 4q28.1-q28.2 in 5 families. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of vLINCL in the families reported by Siintola et al. (2007) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 6 families with vLINCL, 5 of them Turkish families reported by Topcu et al. (2004), Siintola et al. (2007) identified 6 different homozygous mutations in the MFSD8 gene (see, e.g., 611124.0001-611124.0003 and 611124.0010). MFSD8 belongs to the major facilitator superfamily of transporter proteins and is expressed ubiquitously, with several alternatively spliced variants. Like the majority of the previously reported NCL proteins, MFSD8 localizes mainly to the lysosomal compartment. Analysis of the genome-scan data suggested the existence of at least 3 more genes in the remaining 5 families, further corroborating the great genetic heterogeneity of LINCLs. </p><p>In affected individuals of a consanguineous Egyptian family with CLN7, Stogmann et al. (2009) identified a homozygous mutation in the MFSD8 gene (Y121C; 611124.0004). </p><p>In 3 affected individuals of a consanguineous Saudi family with CLN7, Aldahmesh et al. (2009) identified a homozygous mutation in the MFSD8 gene (P412L; 611124.0005). </p><p>In 32 of 80 patients from 75 families with late-infantile onset CLN, Kousi et al. (2009) identified 10 mutations in the MFSD8 gene, including 8 novel mutations (see, e.g., 611124.0006-611124.0007). Although most of the patients were of Turkish origin, many were from other regions, including India, the Netherlands, Italy, and Czech Republic. The phenotype was mostly homogeneous, with onset between 1.5 and 5 years, developmental regression, seizures, mental and motor regression, speech impairments, ataxia, visual failure, and myoclonus. Most of the mutations were private, found only in a single family. However, all known CLN loci were excluded in Turkish patients from 35 families with late-infantile onset of CLN, indicating genetic heterogeneity. </p><p>In 9 (39%) of 23 children with late infantile-onset CLN, 22 of Italian origin and 1 from the southeast of France, who were negative for mutation in known CLN-associated genes, Aiello et al. (2009) identified homozygosity or compound heterozygosity for pathogenic mutations in MFSD8 (see, e.g., 611124.0001, 611124.0009, and 611124.0011-611124.0012). Mutation-positive patients were characterized by early psychomotor regression and seizures, with 7 of 9 developing mental regression, personality disorders, and speech impairment within 3 to 4 years after onset, and 4 becoming unable to walk unaided within 2 years. In 14 of the patients, Aiello et al. (2009) found no mutations in any of the known CLN-causing genes, suggesting further genetic heterogeneity of vLINCL. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kousi et al. (2009) identified a homozygous mutation in the MFSD8 gene (T294K; 611124.0006) in 14 Roma patients from 12 families with CLN7 from the former Czechoslovakia. The phenotype was characterized by late-infantile onset, developmental regression, seizures, visual failure, and ataxia. Haplotype analysis was consistent with a founder effect. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ashwini et al. (2016) performed neurologic evaluations on 4 unrelated client-owned Chihuahua dogs from Japan, Italy, and England that exhibited progressive neurologic signs consistent with a diagnosis of NCL. Brain and in some cases also retinal and heart tissues were examined postmortem for the presence of lysosomal storage bodies characteristic of NCL. The affected dogs exhibited massive accumulation of autofluorescent lysosomal storage bodies in the brain, retina, and heart accompanied by brain atrophy and retinal degeneration. The dogs were screened for known canine NCL mutations that had been reported in a variety of dog breeds. All 4 dogs were homozygous for the MFSD8 single-basepair deletion (c.843delT) previously associated with NCL in a Chinese Crested dog and in 2 affected littermate Chihuahuas from Scotland. The dogs were all homozygous for the normal alleles at the other genetic loci known to cause different forms of canine NCL. The MFSD8 c.843delT mutation was not present in 57 Chihuahuas that were either clinically normal or suffered from unrelated diseases or in 1761 unaffected dogs representing 186 other breeds. Based on these data Ashwini et al. (2016) considered it almost certain that the MFSD8 c.843delT mutation is the cause of NCL in Chihuahuas. Because the disorder occurred in widely separated geographic locations or in unrelated dogs from the same country, it is likely that the mutant allele is widespread among Chihuahuas. Ashwini et al. (2016) suggested that genetic testing for this mutation in other Chihuahuas is therefore likely to identify intact dogs with the mutant allele that could be used to establish a research colony that could be used to test potential therapeutic interventions for the corresponding human disease. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Aiello, C., Terracciano, A., Simonati, A., Discepoli, G., Cannelli, N., Claps, D., Crow, Y. J., Bianchi, M., Kitzmuller, C., Longo, D., Tavoni, A., Franzoni, E., and 10 others.
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<strong>Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.</strong>
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Hum. Mutat. 30: E530-E540, 2009. Note: Electronic Article.
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[PubMed: 19177532]
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[Full Text: https://doi.org/10.1002/humu.20975]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Aldahmesh, M. A., Al-Hassnan, Z. N., Aldosari, M., Alkuraya, F. S.
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<strong>Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.</strong>
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Neurogenetics 10: 307-311, 2009.
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[PubMed: 19277732]
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[Full Text: https://doi.org/10.1007/s10048-009-0185-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ashwini, A., D'Angelo, A., Yamato, O., Giordano, C., Cagnotti, G., Harcourt-Brown, T., Mhlanga-Mutangadura, T., Guo, J., Johnson, G. S., Katz, M. L.
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<strong>Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.</strong>
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Molec. Genet. Metab. 118: 326-332, 2016.
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[PubMed: 27211611]
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[Full Text: https://doi.org/10.1016/j.ymgme.2016.05.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kim, J., Hu, C., Moufawad El Achkar, C., Black, L. E., Douville, J., Larson, A., Pendergast, M. K., Goldkind, S. F., Lee, E. A., Kuniholm, A., Soucy, A., Vaze, J., and 36 others.
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<strong>Patient-customized oligonucleotide therapy for a rare genetic disease.</strong>
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New Eng. J. Med. 381: 1644-1652, 2019.
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[PubMed: 31597037]
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[Full Text: https://doi.org/10.1056/NEJMoa1813279]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., Lehesjoki, A.-E.
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<strong>Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.</strong>
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Brain 132: 810-819, 2009.
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[PubMed: 19201763]
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[Full Text: https://doi.org/10.1093/brain/awn366]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mole, S. E., Williams, R. E., Goebel, H. H.
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<strong>Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.</strong>
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Neurogenetics 6: 107-126, 2005.
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[PubMed: 15965709]
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[Full Text: https://doi.org/10.1007/s10048-005-0218-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ranta, S., Topcu, M., Tegelberg, S., Tan, H., Ustubutun, A., Saatci, I., Dufke, A., Enders, H., Pohl, K., Alembik, Y., Mitchell, W. A., Mole, S. E., Lehesjoki, A.-E.
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<strong>Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.</strong>
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Hum. Mutat. 23: 300-305, 2004.
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[PubMed: 15024724]
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[Full Text: https://doi.org/10.1002/humu.20018]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., Lehesjoki, A.-E.
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<strong>The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.</strong>
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Am. J. Hum. Genet. 81: 136-146, 2007.
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[PubMed: 17564970]
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[Full Text: https://doi.org/10.1086/518902]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Siintola, E., Topcu, M., Kohlschutter, A., Salonen, T., Joensuu, T., Anttonen, A.-K., Lehesjoki, A.-E.
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<strong>Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.</strong>
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Clin. Genet. 68: 167-173, 2005.
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[PubMed: 15996215]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2005.00471.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Stogmann, E., El Tawil, S., Wagenstaller, J., Gaber, A., Edris, S., Abdelhady, A., Assem-Hilger, E., Leutmezer, F., Bonelli, S., Baumgartner, C., Zimprich, F., Strom, T. M., Zimprich, A.
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<strong>A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.</strong>
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Neurogenetics 10: 73-77, 2009.
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[PubMed: 18850119]
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[Full Text: https://doi.org/10.1007/s10048-008-0153-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Topcu, M., Tan, H., Yalnizoglu, D., Usubutun, A., Saatci, I., Aynaci, M., Anlar, B., Topaloglu, H., Turanli, G., Kose, G., Aysun, S.
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<strong>Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.</strong>
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Turk. J. Pediat. 46: 1-10, 2004.
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[PubMed: 15074367]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wheeler, R. B., Sharp, J. D., Mitchell, W. A., Bate, S. L., Williams, R. E., Lake, B. D., Gardiner, R. M.
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<strong>A new locus for variant late neuronal ceroid lipofuscinosis--CLN7.</strong>
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Molec. Genet. Metab. 66: 337-338, 1999.
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[PubMed: 10191125]
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[Full Text: https://doi.org/10.1006/mgme.1999.2804]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 04/01/2020<br>Ada Hamosh - updated : 12/08/2016<br>Marla J. F. O'Neill - updated : 1/7/2015<br>Cassandra L. Kniffin - updated : 3/17/2010<br>Cassandra L. Kniffin - updated : 3/25/2009<br>Victor A. McKusick - updated : 6/19/2007
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Cassandra L. Kniffin : 4/20/2007
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