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<title>
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Entry
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- #601780 - CEROID LIPOFUSCINOSIS, NEURONAL, 6A; CLN6A
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- OMIM
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<span class="h4">#601780</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</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="#seeAlso"><strong>See Also</strong></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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<div><a href="https://clinicaltrials.gov/search?cond=(CEROID LIPOFUSCINOSIS, NEURONAL) OR (CLN6)" 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=19114&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/cln6-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="http://www.informatics.jax.org/disease/601780" 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/OMIA001443/" 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://catalog.coriell.org/Search?q=OmimNum:601780" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 228363<br />
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<strong>DO:</strong> 0110729<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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601780
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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, 6A; CLN6A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT; vLINCL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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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/15/326?start=-3&limit=10&highlight=326">
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15q23
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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, 6A
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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/601780"> 601780 </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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CLN6
|
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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/606725"> 606725 </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/601780" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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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/601780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601780" 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;">
|
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|
<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;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vision loss, 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">[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/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</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><br /> -
|
|
Retinal degeneration (in most patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95695004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95695004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</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 /> -
|
|
Loss of motor skills <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014590&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014590</a>]</span><br /> -
|
|
Loss of language skills <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436521&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436521</a>]</span><br /> -
|
|
Cognitive decline <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a>, <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> -
|
|
Seizures <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> 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> <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 /> -
|
|
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</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 /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
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Extrapyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
|
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Thin corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5441562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span><br /> -
|
|
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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Enlarged ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
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White matter abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span><br /> -
|
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Neurophysiologic abnormalities (EEG, SEP, VEP) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866285</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001311</a>]</span><br /> -
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Autofluorescent lipopigment in neurons <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864678</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> LABORATORY ABNORMALITIES </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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|
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- 'Curvilinear' profiles ultrastructurally <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836852</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003205</a>]</span><br /> -
|
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'Fingerprint' profiles ultrastructurally <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836851</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003208</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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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 the first years of life after normal early development<br /> -
|
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Early death<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 CLN6 transmembrane ER protein gene (CLN6, <a href="/entry/606725#0001">606725.0001</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>
|
|
</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>
|
|
</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">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</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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|
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<a href="/geneMap/1/484?start=-3&limit=10&highlight=484"> 1p34.2 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256730"> Ceroid lipofuscinosis, neuronal, 1 </a>
|
|
</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="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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|
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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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|
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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/256730"> 256730 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600722"> PPT1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600722"> 600722 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/548?start=-3&limit=10&highlight=548"> 4q28.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610951"> Ceroid lipofuscinosis, neuronal, 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610951"> 610951 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611124"> MFSD8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611124"> 611124 </a>
|
|
</span>
|
|
</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/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
|
|
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|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
|
|
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611726"> 611726 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611725"> KCTD7 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611725"> 611725 </a>
|
|
</span>
|
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</td>
|
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
|
|
|
|
</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600143"> 600143 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> CLN8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> 607837 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610003"> Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant </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/610003"> 610003 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> CLN8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> 607837 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/63?start=-3&limit=10&highlight=63"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610127"> Ceroid lipofuscinosis, neuronal, 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610127"> 610127 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116840"> CTSD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116840"> 116840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
|
|
</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/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/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/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>
|
|
</tr>
|
|
|
|
<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>
|
|
|
|
</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>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
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>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
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<p>A number sign (#) is used with this entry because of evidence that neuronal ceroid lipofuscinosis-6A (CLN6A) is caused by homozygous or compound heterozygous mutation in the CLN6 gene (<a href="/entry/606725">606725</a>) on chromosome 15q23.</p><p>Biallelic mutation in the CLN6 gene can also cause juvenile or adult-onset CLN, known as Kufs disease (CLN6B; <a href="/entry/204300">204300</a>).</p>
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<p>Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by <a href="#9" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., Mole, S. E. <strong>Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.</strong> Hum. Mutat. 22: 35-42, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815591</a>] [<a href="https://doi.org/10.1002/humu.10227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815591">Sharp et al., 2003</a>; <a href="#7" 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/?term=15965709+12815591" 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 discussion of genetic heterogeneity of CLN, see CLN1 (<a href="/entry/256730">256730</a>).</p>
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<p>Historically, the CLNs were originally classified broadly by age at onset: CLN1 as the infantile-onset form, or the infantile-onset Finnish form, having first been described in that population; CLN2 as the late infantile-onset form; CLN3 as the juvenile-onset form; and CLN4 as the adult-onset form. With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect (<a href="#7" 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>
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<p><a href="#8" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Jarvela, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E. <strong>Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.</strong> Hum. Molec. Genet. 6: 591-595, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097964</a>] [<a href="https://doi.org/10.1093/hmg/6.4.591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097964">Sharp et al. (1997)</a> studied 2 consanguineous families with a variant form of late infantile neuronal ceroid lipofuscinosis (vLINCL). Both families originated from the Indian subcontinent. The affected individuals demonstrated a similar clinical course to the classic late infantile form (CLN2; <a href="/entry/204500">204500</a>), but their histology included storage bodies typical of both the CLN2 and juvenile (CLN3; <a href="/entry/204200">204200</a>) forms: curvilinear bodies typical of CLN2 and fingerprint profiles more typical of CLN3. <a href="#5" class="mim-tip-reference" title="Haines, J. L., Boustany, R.-M. N., Alroy, J., Auger, K. J., Shook, K. S., Terwedow, H., Lerner, T. J. <strong>Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.</strong> Neurogenetics 1: 217-222, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737126</a>] [<a href="https://doi.org/10.1007/s100480050032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737126">Haines et al. (1998)</a> stated that the phenotype reported by <a href="#8" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Jarvela, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E. <strong>Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.</strong> Hum. Molec. Genet. 6: 591-595, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097964</a>] [<a href="https://doi.org/10.1093/hmg/6.4.591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097964">Sharp et al. (1997)</a> was similar to that described by <a href="#6" class="mim-tip-reference" title="Lake, B. D., Cavanagh, N. P. C. <strong>Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease: analysis of 5 patients.</strong> J. Neurol. Sci. 36: 265-271, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/650259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">650259</a>] [<a href="https://doi.org/10.1016/0022-510x(78)90087-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="650259">Lake and Cavanagh (1978)</a>, who described an 'early-juvenile' form with onset around 5 years of age after normal early development. Features included ataxia, drop attacks, myoclonus, cognitive decline, loss of motor skills, abnormal eye movements, dementia, and pyramidal/extrapyramidal signs. Histology showed fingerprint profiles in patient neurons and smooth muscle cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=650259+9097964+10737126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Haines, J. L., Boustany, R.-M. N., Alroy, J., Auger, K. J., Shook, K. S., Terwedow, H., Lerner, T. J. <strong>Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.</strong> Neurogenetics 1: 217-222, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737126</a>] [<a href="https://doi.org/10.1007/s100480050032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737126">Haines et al. (1998)</a> studied 8 families from Costa Rica with variant late infantile NCL. The patients had onset between 5 and 7 years of age and lived until the middle of the second decade. Skin biopsies showed curvilinear bodies and lamellated membrane structures. The families were descendants of Spanish settlers in a small geographic region of Costa Rica. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., Mole, S. E. <strong>Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.</strong> Hum. Mutat. 22: 35-42, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815591</a>] [<a href="https://doi.org/10.1002/humu.10227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815591">Sharp et al. (2003)</a> reported the clinical features of 26 families from 9 different countries with CLN6A confirmed by genetic analysis. Some of the patients and mutations had previously been reported. Disease onset ranged from 1.5 to 5 years of age. Seizures occurred between 3 and 6 years of age, although some had later onset. Progressive visual failure was observed between 3 and 6 years, loss of ambulation between 2 and 8 years, and death between 9 and 16.8 years. Several geographically related groups were described, including patients from Costa Rica, Portugal, Pakistan, and the Czech Republic, including Roma Gypsy families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815591" 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="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> reported a girl (patient 9124), born of unrelated Turkish parents (family 4), who had normal early motor development with mild language delay until age 4 years, when she developed dementia with loss of language, seizures with EEG abnormalities, and brain atrophy on MRI. Mixed curvilinear and fingerprint inclusions were found in skin biopsy. Two sibs in another consanguineous Turkish family (family 3) presented in early childhood with progressive neurodegenerative features, seizures, and cerebral and cerebellar atrophy. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chin, J. J., Behnam, B., Davids, M., Sharma, P., Zein, W. M., Wang, C., Chepa-Lotrea, X., Gallantine, W. B., Toro, C., Adams, D. R. Tifft, C. J., Gahl, W. A., Malicdan, M. C. V. <strong>Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.</strong> Molec. Genet. Metab. 126: 188-195, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30528883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30528883</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30528883">Chin et al. (2019)</a> reported 2 sibs and an unrelated patient with common features of CLN6A but without visual impairment. Proband 1 had symptom onset at 6 years of age with myoclonus, epilepsy, and developmental regression. Ataxia developed at age 8 years. Although she did not have visual impairment, she had enlargement of the optic nerve cup concerning for glaucoma. Brain MRI showed a thin corpus callosum, atrophy of the cerebellum, cerebral cortex and ventral pons, and enlargement of ventricles. Proband 2 had symptom onset at 6 years of age with developmental regression and an episode of psychosis. She developed epilepsy at age 6 years and myoclonus and ataxia between ages 6 and 8. Brain MRI showed periventricular white matter loss, abnormal signal in the occipital lobes, mild thinning of the corpus callosum, hypomyelination of the internal capsule, and mild cerebral cortex atrophy. The younger brother of proband 2 reportedly had developmental regression at age 5 years and ataxia, dysarthria, and cognitive regression, but no visual impairment, at age 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30528883" 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 CLN6A in the families reported by <a href="#4" class="mim-tip-reference" title="Gao, H., Boustany, R.-M. N., Espinola, J. A., Cotman, S. L., Srinidhi, L., Antonellis, K. A., Gillis, T., Qin, X., Liu, S., Donahue, L. R., Bronson, R. T., Faust, J. R., Stout, D., Haines, J. L., Lerner, T. J., MacDonald, M. E. <strong>Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.</strong> Am. J. Hum. Genet. 70: 324-335, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791207</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11791207[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/10.1086/338190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791207">Gao et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11791207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis of 2 consanguineous Indian families with vLINCL, <a href="#8" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Jarvela, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E. <strong>Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.</strong> Hum. Molec. Genet. 6: 591-595, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097964</a>] [<a href="https://doi.org/10.1093/hmg/6.4.591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097964">Sharp et al. (1997)</a> identified a 12-cM critical region on chromosome 15q21-23, which was designated CLN6. A maximum total lod score of 6.0 was obtained at marker D15S1020 (theta = 0.00). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9097964" 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>From haplotype and disequilibrium analyses of 8 families from a small geographic region in Costa Rica with vLINCL, <a href="#5" class="mim-tip-reference" title="Haines, J. L., Boustany, R.-M. N., Alroy, J., Auger, K. J., Shook, K. S., Terwedow, H., Lerner, T. J. <strong>Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.</strong> Neurogenetics 1: 217-222, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737126</a>] [<a href="https://doi.org/10.1007/s100480050032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737126">Haines et al. (1998)</a> identified a candidate region on chromosome 15q21-q23, close to the region identified by <a href="#8" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Jarvela, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E. <strong>Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.</strong> Hum. Molec. Genet. 6: 591-595, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097964</a>] [<a href="https://doi.org/10.1093/hmg/6.4.591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097964">Sharp et al. (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9097964+10737126" 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 2 families with a variant form of LINCL, one from Costa Rica and the other from Venezuela, <a href="#4" class="mim-tip-reference" title="Gao, H., Boustany, R.-M. N., Espinola, J. A., Cotman, S. L., Srinidhi, L., Antonellis, K. A., Gillis, T., Qin, X., Liu, S., Donahue, L. R., Bronson, R. T., Faust, J. R., Stout, D., Haines, J. L., Lerner, T. J., MacDonald, M. E. <strong>Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.</strong> Am. J. Hum. Genet. 70: 324-335, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791207</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11791207[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/10.1086/338190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791207">Gao et al. (2002)</a> identified homozygous mutations in the CLN6 gene (E72X; <a href="/entry/606725#0001">606725.0001</a> and tyr171del; <a href="/entry/606725#0002">606725.0002</a>, respectively). <a href="#11" class="mim-tip-reference" title="Wheeler, R. B., Sharp, J. D., Schultz, R. A., Joslin, J. M., Williams, R. E., Mole, S. E. <strong>The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.</strong> Am. J. Hum. Genet. 70: 537-542, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11727201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11727201</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11727201[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/10.1086/338708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11727201">Wheeler et al. (2002)</a> independently and simultaneously identified 6 different mutations in the CLN6 gene in patients with vLINCL (<a href="/entry/606725#0001">606725.0001</a>; <a href="/entry/606725#0003">606725.0003</a>-<a href="/entry/606725#0007">606725.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11727201+11791207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., Mole, S. E. <strong>Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.</strong> Hum. Mutat. 22: 35-42, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815591</a>] [<a href="https://doi.org/10.1002/humu.10227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815591">Sharp et al. (2003)</a> identified 8 mutations in the CLN6 gene in patients with CLN6A, bringing to 18 the total number of CLN6 mutations found in this disorder. Ten mutations affected single amino acids, all of which are conserved across the vertebrate species. Minor differences in the pattern of disease symptom evolution could be identified. One patient with a more protected disease course was compound heterozygous for a missense mutation and an unidentified mutation. Fifteen mutations occurred in 1 or 2 families only, and families from the same country did not all share the same mutation. No major founder mutation was identified, but the E72X mutation (<a href="/entry/606725#0001">606725.0001</a>) was significantly more common in patients in Costa Rica than 2 other mutations present in that same population. A group of Roma Gypsy families from the Czech Republic shared 2 disease associated haplotypes, one of which was also present in a Pakistani family, consistent with the proposed migration of the Roma from the Indian subcontinent 1,000 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815591" 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="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> identified 2 different mutations in the CLN6 gene (<a href="/entry/606725#0008">606725.0008</a>; <a href="/entry/606725#0009">606725.0009</a>) in affected members of 2 Turkish families with CLN6A. The findings indicated that a subset of patients with the so-called 'Turkish variant' of late infantile CLN (CLN7; see <a href="/entry/600143">600143</a>) actually have CLN6A. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs and an unrelated patient with CLN6A without visual impairment, <a href="#3" class="mim-tip-reference" title="Chin, J. J., Behnam, B., Davids, M., Sharma, P., Zein, W. M., Wang, C., Chepa-Lotrea, X., Gallantine, W. B., Toro, C., Adams, D. R. Tifft, C. J., Gahl, W. A., Malicdan, M. C. V. <strong>Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.</strong> Molec. Genet. Metab. 126: 188-195, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30528883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30528883</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.12.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30528883">Chin et al. (2019)</a> identified homozygous and compound heterozygous mutations in the CLN6 gene (<a href="/entry/606725#0015">606725.0015</a>-<a href="/entry/606725#0017">606725.0017</a>), respectively. The mutations were found by whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30528883" 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="#9" class="mim-tip-reference" title="Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., Mole, S. E. <strong>Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.</strong> Hum. Mutat. 22: 35-42, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815591</a>] [<a href="https://doi.org/10.1002/humu.10227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815591">Sharp et al. (2003)</a> reported 26 families from 9 different countries with CLN6 confirmed by genetic analysis. Several geographically related groups were described, including patients from Costa Rica, Portugal, Pakistan, and the Czech Republic, including Roma Gypsy families. Although many families from Costa Rica shared the same nonsense mutation (E72X), families from the same country did not necessarily share the same mutation. There was also evidence of compound heterozygosity within ethnic groups and shared mutations or disease haplotypes among different ethnic groups, suggesting that this gene is highly mutable. The authors emphasized that CLN6 has a worldwide geographic distribution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815591" 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="#2" class="mim-tip-reference" title="Broom, M. F., Zhou, C., Broom, J. E., Barwell, K. J., Jolly, R. D., Hill, D. F. <strong>Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.</strong> J. Med. Genet. 35: 717-721, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733028</a>] [<a href="https://doi.org/10.1136/jmg.35.9.717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9733028">Broom et al. (1998)</a> showed linkage of the naturally occurring OCL mutant in South Hampshire sheep, the best-described animal model of NCL, to a region syntenic to human chromosome 15q21-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733028" 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>Nclf is a spontaneous mouse mutation causing a recessively inherited NCL-like disease with hallmark storage deposits, retinal atrophy, and paralysis (<a href="#1" class="mim-tip-reference" title="Bronson, R. T., Donahue, L. R., Johnson, K. R., Tanner, A., Lane, P. W., Faust, J. R. <strong>Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9.</strong> Am. J. Med. Genet. 77: 289-297, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600738</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<289::aid-ajmg8>3.0.co;2-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600738">Bronson et al., 1998</a>). Both <a href="#4" class="mim-tip-reference" title="Gao, H., Boustany, R.-M. N., Espinola, J. A., Cotman, S. L., Srinidhi, L., Antonellis, K. A., Gillis, T., Qin, X., Liu, S., Donahue, L. R., Bronson, R. T., Faust, J. R., Stout, D., Haines, J. L., Lerner, T. J., MacDonald, M. E. <strong>Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.</strong> Am. J. Hum. Genet. 70: 324-335, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791207</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11791207[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/10.1086/338190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11791207">Gao et al. (2002)</a> and <a href="#11" class="mim-tip-reference" title="Wheeler, R. B., Sharp, J. D., Schultz, R. A., Joslin, J. M., Williams, R. E., Mole, S. E. <strong>The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.</strong> Am. J. Hum. Genet. 70: 537-542, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11727201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11727201</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11727201[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/10.1086/338708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11727201">Wheeler et al. (2002)</a> identified mutations in the Cln6 gene in the nclf mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11727201+11791207+9600738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<289::aid-ajmg8>3.0.co;2-i" target="_blank">Full Text</a>]
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Broom, M. F., Zhou, C., Broom, J. E., Barwell, K. J., Jolly, R. D., Hill, D. F.
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<strong>Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.</strong>
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J. Med. Genet. 35: 717-721, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9733028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9733028</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9733028" 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/10.1136/jmg.35.9.717" target="_blank">Full Text</a>]
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<a id="Chin2019" class="mim-anchor"></a>
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Chin, J. J., Behnam, B., Davids, M., Sharma, P., Zein, W. M., Wang, C., Chepa-Lotrea, X., Gallantine, W. B., Toro, C., Adams, D. R. Tifft, C. J., Gahl, W. A., Malicdan, M. C. V.
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<strong>Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.</strong>
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Molec. Genet. Metab. 126: 188-195, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30528883/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30528883</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30528883" 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.2018.12.001" target="_blank">Full Text</a>]
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<a id="Gao2002" class="mim-anchor"></a>
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Gao, H., Boustany, R.-M. N., Espinola, J. A., Cotman, S. L., Srinidhi, L., Antonellis, K. A., Gillis, T., Qin, X., Liu, S., Donahue, L. R., Bronson, R. T., Faust, J. R., Stout, D., Haines, J. L., Lerner, T. J., MacDonald, M. E.
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<strong>Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.</strong>
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Am. J. Hum. Genet. 70: 324-335, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11791207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11791207</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11791207[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=11791207" 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/10.1086/338190" target="_blank">Full Text</a>]
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<a id="Haines1998" class="mim-anchor"></a>
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Haines, J. L., Boustany, R.-M. N., Alroy, J., Auger, K. J., Shook, K. S., Terwedow, H., Lerner, T. J.
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<strong>Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.</strong>
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Neurogenetics 1: 217-222, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737126" 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/s100480050032" target="_blank">Full Text</a>]
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<a id="Lake1978" class="mim-anchor"></a>
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Lake, B. D., Cavanagh, N. P. C.
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<strong>Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease: analysis of 5 patients.</strong>
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J. Neurol. Sci. 36: 265-271, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/650259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">650259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=650259" 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/10.1016/0022-510x(78)90087-4" target="_blank">Full Text</a>]
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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="Sharp1997" class="mim-anchor"></a>
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Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Jarvela, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E.
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<strong>Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.</strong>
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Hum. Molec. Genet. 6: 591-595, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9097964" 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/hmg/6.4.591" target="_blank">Full Text</a>]
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Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., Mole, S. E.
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<strong>Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.</strong>
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Hum. Mutat. 22: 35-42, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815591" 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.10227" target="_blank">Full Text</a>]
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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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Wheeler, R. B., Sharp, J. D., Schultz, R. A., Joslin, J. M., Williams, R. E., Mole, S. E.
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<strong>The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.</strong>
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Am. J. Hum. Genet. 70: 537-542, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11727201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11727201</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11727201[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=11727201" 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/10.1086/338708" target="_blank">Full Text</a>]
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Zeman, W., Hoffman, J.
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<strong>Juvenile and late forms of amaurotic idiocy in one family.</strong>
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J. Neurol. Neurosurg. Psychiat. 25: 352-362, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14003453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14003453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14003453" 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/10.1136/jnnp.25.4.352" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/23/2021
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Hilary J. Vernon - updated : 07/22/2021<br>Victor A. McKusick - updated : 2/21/2002<br>Michael J. Wright - updated : 10/7/1998<br>Victor A. McKusick - updated : 5/6/1998
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Creation Date:
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Victor A. McKusick : 4/28/1997
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carol : 12/01/2021
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ckniffin : 12/01/2021<br>carol : 07/26/2021<br>ckniffin : 07/23/2021<br>carol : 07/22/2021<br>carol : 02/19/2019<br>carol : 05/18/2016<br>ckniffin : 6/15/2011<br>wwang : 5/17/2011<br>ckniffin : 5/17/2011<br>carol : 3/24/2006<br>ckniffin : 3/21/2006<br>ckniffin : 3/16/2006<br>ckniffin : 9/23/2003<br>carol : 7/31/2003<br>cwells : 2/27/2002<br>carol : 2/27/2002<br>cwells : 2/27/2002<br>terry : 2/21/2002<br>terry : 10/7/1998<br>dkim : 7/23/1998<br>carol : 5/11/1998<br>terry : 5/6/1998<br>alopez : 4/30/1997
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<strong>#</strong> 601780
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CEROID LIPOFUSCINOSIS, NEURONAL, 6A; CLN6A
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NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT; vLINCL
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<strong>ORPHA:</strong> 228363;
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<strong>DO:</strong> 0110729;
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<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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15q23
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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, 6A
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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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601780
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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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CLN6
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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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606725
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</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>A number sign (#) is used with this entry because of evidence that neuronal ceroid lipofuscinosis-6A (CLN6A) is caused by homozygous or compound heterozygous mutation in the CLN6 gene (606725) on chromosome 15q23.</p><p>Biallelic mutation in the CLN6 gene can also cause juvenile or adult-onset CLN, known as Kufs disease (CLN6B; 204300).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by Sharp et al., 2003; Mole et al., 2005). </p><p>For a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>Historically, the CLNs were originally classified broadly by age at onset: CLN1 as the infantile-onset form, or the infantile-onset Finnish form, having first been described in that population; CLN2 as the late infantile-onset form; CLN3 as the juvenile-onset form; and CLN4 as the adult-onset form. With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect (Mole et al., 2005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</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>Sharp et al. (1997) studied 2 consanguineous families with a variant form of late infantile neuronal ceroid lipofuscinosis (vLINCL). Both families originated from the Indian subcontinent. The affected individuals demonstrated a similar clinical course to the classic late infantile form (CLN2; 204500), but their histology included storage bodies typical of both the CLN2 and juvenile (CLN3; 204200) forms: curvilinear bodies typical of CLN2 and fingerprint profiles more typical of CLN3. Haines et al. (1998) stated that the phenotype reported by Sharp et al. (1997) was similar to that described by Lake and Cavanagh (1978), who described an 'early-juvenile' form with onset around 5 years of age after normal early development. Features included ataxia, drop attacks, myoclonus, cognitive decline, loss of motor skills, abnormal eye movements, dementia, and pyramidal/extrapyramidal signs. Histology showed fingerprint profiles in patient neurons and smooth muscle cells. </p><p>Haines et al. (1998) studied 8 families from Costa Rica with variant late infantile NCL. The patients had onset between 5 and 7 years of age and lived until the middle of the second decade. Skin biopsies showed curvilinear bodies and lamellated membrane structures. The families were descendants of Spanish settlers in a small geographic region of Costa Rica. </p><p>Sharp et al. (2003) reported the clinical features of 26 families from 9 different countries with CLN6A confirmed by genetic analysis. Some of the patients and mutations had previously been reported. Disease onset ranged from 1.5 to 5 years of age. Seizures occurred between 3 and 6 years of age, although some had later onset. Progressive visual failure was observed between 3 and 6 years, loss of ambulation between 2 and 8 years, and death between 9 and 16.8 years. Several geographically related groups were described, including patients from Costa Rica, Portugal, Pakistan, and the Czech Republic, including Roma Gypsy families. </p><p>Siintola et al. (2005) reported a girl (patient 9124), born of unrelated Turkish parents (family 4), who had normal early motor development with mild language delay until age 4 years, when she developed dementia with loss of language, seizures with EEG abnormalities, and brain atrophy on MRI. Mixed curvilinear and fingerprint inclusions were found in skin biopsy. Two sibs in another consanguineous Turkish family (family 3) presented in early childhood with progressive neurodegenerative features, seizures, and cerebral and cerebellar atrophy. </p><p>Chin et al. (2019) reported 2 sibs and an unrelated patient with common features of CLN6A but without visual impairment. Proband 1 had symptom onset at 6 years of age with myoclonus, epilepsy, and developmental regression. Ataxia developed at age 8 years. Although she did not have visual impairment, she had enlargement of the optic nerve cup concerning for glaucoma. Brain MRI showed a thin corpus callosum, atrophy of the cerebellum, cerebral cortex and ventral pons, and enlargement of ventricles. Proband 2 had symptom onset at 6 years of age with developmental regression and an episode of psychosis. She developed epilepsy at age 6 years and myoclonus and ataxia between ages 6 and 8. Brain MRI showed periventricular white matter loss, abnormal signal in the occipital lobes, mild thinning of the corpus callosum, hypomyelination of the internal capsule, and mild cerebral cortex atrophy. The younger brother of proband 2 reportedly had developmental regression at age 5 years and ataxia, dysarthria, and cognitive regression, but no visual impairment, at age 12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>The transmission pattern of CLN6A in the families reported by Gao et al. (2002) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>By linkage analysis of 2 consanguineous Indian families with vLINCL, Sharp et al. (1997) identified a 12-cM critical region on chromosome 15q21-23, which was designated CLN6. A maximum total lod score of 6.0 was obtained at marker D15S1020 (theta = 0.00). </p><p>From haplotype and disequilibrium analyses of 8 families from a small geographic region in Costa Rica with vLINCL, Haines et al. (1998) identified a candidate region on chromosome 15q21-q23, close to the region identified by Sharp et al. (1997). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 families with a variant form of LINCL, one from Costa Rica and the other from Venezuela, Gao et al. (2002) identified homozygous mutations in the CLN6 gene (E72X; 606725.0001 and tyr171del; 606725.0002, respectively). Wheeler et al. (2002) independently and simultaneously identified 6 different mutations in the CLN6 gene in patients with vLINCL (606725.0001; 606725.0003-606725.0007). </p><p>Sharp et al. (2003) identified 8 mutations in the CLN6 gene in patients with CLN6A, bringing to 18 the total number of CLN6 mutations found in this disorder. Ten mutations affected single amino acids, all of which are conserved across the vertebrate species. Minor differences in the pattern of disease symptom evolution could be identified. One patient with a more protected disease course was compound heterozygous for a missense mutation and an unidentified mutation. Fifteen mutations occurred in 1 or 2 families only, and families from the same country did not all share the same mutation. No major founder mutation was identified, but the E72X mutation (606725.0001) was significantly more common in patients in Costa Rica than 2 other mutations present in that same population. A group of Roma Gypsy families from the Czech Republic shared 2 disease associated haplotypes, one of which was also present in a Pakistani family, consistent with the proposed migration of the Roma from the Indian subcontinent 1,000 years ago. </p><p>Siintola et al. (2005) identified 2 different mutations in the CLN6 gene (606725.0008; 606725.0009) in affected members of 2 Turkish families with CLN6A. The findings indicated that a subset of patients with the so-called 'Turkish variant' of late infantile CLN (CLN7; see 600143) actually have CLN6A. </p><p>In 2 sibs and an unrelated patient with CLN6A without visual impairment, Chin et al. (2019) identified homozygous and compound heterozygous mutations in the CLN6 gene (606725.0015-606725.0017), respectively. The mutations were found by whole-exome sequencing. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>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">
|
|
<p>Sharp et al. (2003) reported 26 families from 9 different countries with CLN6 confirmed by genetic analysis. Several geographically related groups were described, including patients from Costa Rica, Portugal, Pakistan, and the Czech Republic, including Roma Gypsy families. Although many families from Costa Rica shared the same nonsense mutation (E72X), families from the same country did not necessarily share the same mutation. There was also evidence of compound heterozygosity within ethnic groups and shared mutations or disease haplotypes among different ethnic groups, suggesting that this gene is highly mutable. The authors emphasized that CLN6 has a worldwide geographic distribution. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Broom et al. (1998) showed linkage of the naturally occurring OCL mutant in South Hampshire sheep, the best-described animal model of NCL, to a region syntenic to human chromosome 15q21-q23. </p><p>Nclf is a spontaneous mouse mutation causing a recessively inherited NCL-like disease with hallmark storage deposits, retinal atrophy, and paralysis (Bronson et al., 1998). Both Gao et al. (2002) and Wheeler et al. (2002) identified mutations in the Cln6 gene in the nclf mouse. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
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</span>
|
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</h4>
|
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<span class="mim-text-font">
|
|
Zeman and Hoffman (1962)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bronson, R. T., Donahue, L. R., Johnson, K. R., Tanner, A., Lane, P. W., Faust, J. R.
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<strong>Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9.</strong>
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Am. J. Med. Genet. 77: 289-297, 1998.
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[PubMed: 9600738]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980526)77:4<289::aid-ajmg8>3.0.co;2-i]
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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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Broom, M. F., Zhou, C., Broom, J. E., Barwell, K. J., Jolly, R. D., Hill, D. F.
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<strong>Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.</strong>
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J. Med. Genet. 35: 717-721, 1998.
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[PubMed: 9733028]
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[Full Text: https://doi.org/10.1136/jmg.35.9.717]
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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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Chin, J. J., Behnam, B., Davids, M., Sharma, P., Zein, W. M., Wang, C., Chepa-Lotrea, X., Gallantine, W. B., Toro, C., Adams, D. R. Tifft, C. J., Gahl, W. A., Malicdan, M. C. V.
|
|
<strong>Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.</strong>
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Molec. Genet. Metab. 126: 188-195, 2019.
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[PubMed: 30528883]
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[Full Text: https://doi.org/10.1016/j.ymgme.2018.12.001]
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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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Gao, H., Boustany, R.-M. N., Espinola, J. A., Cotman, S. L., Srinidhi, L., Antonellis, K. A., Gillis, T., Qin, X., Liu, S., Donahue, L. R., Bronson, R. T., Faust, J. R., Stout, D., Haines, J. L., Lerner, T. J., MacDonald, M. E.
|
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<strong>Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.</strong>
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Am. J. Hum. Genet. 70: 324-335, 2002.
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[PubMed: 11791207]
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[Full Text: https://doi.org/10.1086/338190]
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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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Haines, J. L., Boustany, R.-M. N., Alroy, J., Auger, K. J., Shook, K. S., Terwedow, H., Lerner, T. J.
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<strong>Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.</strong>
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Neurogenetics 1: 217-222, 1998.
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[PubMed: 10737126]
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[Full Text: https://doi.org/10.1007/s100480050032]
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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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Lake, B. D., Cavanagh, N. P. C.
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<strong>Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease: analysis of 5 patients.</strong>
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J. Neurol. Sci. 36: 265-271, 1978.
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[PubMed: 650259]
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[Full Text: https://doi.org/10.1016/0022-510x(78)90087-4]
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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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Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Jarvela, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E.
|
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<strong>Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.</strong>
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Hum. Molec. Genet. 6: 591-595, 1997.
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[PubMed: 9097964]
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[Full Text: https://doi.org/10.1093/hmg/6.4.591]
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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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Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., Mole, S. E.
|
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<strong>Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.</strong>
|
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Hum. Mutat. 22: 35-42, 2003.
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[PubMed: 12815591]
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[Full Text: https://doi.org/10.1002/humu.10227]
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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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Wheeler, R. B., Sharp, J. D., Schultz, R. A., Joslin, J. M., Williams, R. E., Mole, S. E.
|
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<strong>The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.</strong>
|
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Am. J. Hum. Genet. 70: 537-542, 2002.
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[PubMed: 11727201]
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[Full Text: https://doi.org/10.1086/338708]
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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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Zeman, W., Hoffman, J.
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<strong>Juvenile and late forms of amaurotic idiocy in one family.</strong>
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J. Neurol. Neurosurg. Psychiat. 25: 352-362, 1962.
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[PubMed: 14003453]
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[Full Text: https://doi.org/10.1136/jnnp.25.4.352]
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Cassandra L. Kniffin - updated : 07/23/2021<br>Hilary J. Vernon - updated : 07/22/2021<br>Victor A. McKusick - updated : 2/21/2002<br>Michael J. Wright - updated : 10/7/1998<br>Victor A. McKusick - updated : 5/6/1998
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Victor A. McKusick : 4/28/1997
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