3760 lines
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Entry
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- *300275 - NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300275</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300275">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000147383;t=ENST00000370274" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=50814" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300275" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000147383;t=ENST00000370274" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001129765,NM_015922,XM_011531178,XM_017029564" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015922" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=300275" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02229&isoform_id=02229_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/NSDHL" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/4457237,8393516,8488997,12652969,14043700,119593303,119593304,119593305,193211614,308219220,768040065,1034674449,1870360791,2462499645,2462499647,2462629666,2462629668" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q15738" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=50814" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000147383;t=ENST00000370274" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=NSDHL" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=NSDHL" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+50814" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/NSDHL" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:50814" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/50814" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000370274.8&hgg_start=152831063&hgg_end=152869729&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13398" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:13398" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/nsdhl" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300275[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300275[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/NSDHL/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000147383" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=NSDHL" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=NSDHL" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/NSDHL" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=NSDHL&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134959020" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:13398" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1099438" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/NSDHL#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1099438" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/50814/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002117/" 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://www.orthodb.org/?ncbi=50814" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012394;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012394 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022498;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022498 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022616;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022616 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-050417-163" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:50814" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=NSDHL&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></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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</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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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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>SNOMEDCT:</strong> 17608003, 773329005<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="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300275
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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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NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NSDHL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NSDHL</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/820?start=-3&limit=10&highlight=820">Xq28</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:152831063-152869729&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:152,831,063-152,869,729</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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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="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=308050,300831" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
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</th>
|
|
<th>
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|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/820?start=-3&limit=10&highlight=820">
|
|
Xq28
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
CHILD syndrome
|
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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/308050"> 308050 </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="X-linked dominant">XLD</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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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
CK syndrome
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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/300831"> 300831 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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<p>The NSDHL gene encodes NAD(P)H steroid dehydrogenase-like protein, which is a C4 demethylase involved in postsqualene cholesterol biosynthesis (<a href="#2" class="mim-tip-reference" title="Caldas, H., Herman, G. E. <strong>NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.</strong> Hum. Molec. Genet. 12: 2981-2991, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14506130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14506130</a>] [<a href="https://doi.org/10.1093/hmg/ddg321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14506130">Caldas and Herman, 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14506130" 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="#6" class="mim-tip-reference" title="Heiss, N. S., Rogner, U. C., Kioschis, P., Korn, B., Poustka, A. <strong>Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5).</strong> Genome Res. 6: 478-491, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8828037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8828037</a>] [<a href="https://doi.org/10.1101/gr.6.6.478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8828037">Heiss et al. (1996)</a> identified the human NSDHL gene, the homolog of the mouse gene mutant in the 'bare patches' (Bpa) and 'striated' (Str) phenotypes, at Xq28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8828037" 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="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> found expression of the NSDHL gene in developing cortical neurons and glia in both human and mouse and noted that the enzyme localized to the surface of the endoplasmic reticulum and to lipid droplets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21129721" 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="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> noted that the NSDHL gene contains 8 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21129721" 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="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> noted that the NSDHL gene maps to chromosome Xq28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21129721" 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="Caldas, H., Herman, G. E. <strong>NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.</strong> Hum. Molec. Genet. 12: 2981-2991, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14506130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14506130</a>] [<a href="https://doi.org/10.1093/hmg/ddg321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14506130">Caldas and Herman (2003)</a> investigated the subcellular localization of wildtype and mutant murine Nsdhl proteins in transfected COS-7 cells using confocal microscopy. In addition to endoplasmic reticulum (ER)- localization commonly found for enzymes of post-squalene cholesterol biosynthesis, the authors identified a novel association of NSDHL with lipid droplets, which are ER-derived cytoplasmic structures containing a neutral lipid core. Trafficking through the Golgi was necessary for ER membrane localization of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14506130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>CHILD Syndrome</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong> Am. J. Med. Genet. 90: 339-346, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>]" pmid="10710235">Konig et al. (2000)</a> analyzed 6 patients with CHILD syndrome (<a href="/entry/308050">308050</a>) for mutations in the NSDHL gene and in the EBP gene (<a href="/entry/300205">300205</a>), which functions downstream of NSDHL in a later step of cholesterol biosynthesis. Four of the cases were sporadic, including one in a previously reported 46,XY male (<a href="#5" class="mim-tip-reference" title="Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W. <strong>CHILD syndrome in a boy.</strong> Am. J. Med. Genet. 62: 192-194, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882402</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882402">Happle et al., 1996</a>), and 2 were familial cases in a mother and her daughter. No mutations were identified in the EBP gene; however, mutations were identified in the NSDHL gene in all of the patients. The NSDHL mutations included 2 missense mutations (<a href="#0001">300275.0001</a>-<a href="#0002">300275.0002</a>) and 2 nonsense mutations (<a href="#0003">300275.0003</a>-<a href="#0004">300275.0004</a>). One of these mutations was found in both the mother and daughter and in another patient, although based on their family history and ethnic background, they were highly unlikely to be related. The authors concluded that CHILD syndrome can be added to the list of developmental defects associated with mutations affecting cholesterol synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10710235+8882402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 37-year-old female with CHILD syndrome including torsional and angular deformities of the limbs, <a href="#12" class="mim-tip-reference" title="Martinez, R., Pena, C., Quiroga-Carrillo, M., Ordonez-Reyes, C., Rincon, J., Suarez-Obando, F., Nossa, S., Garcia, M. F. <strong>Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.</strong> Clin. Dysmorph. 31: 162-166, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394469</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35394469">Martinez et al. (2022)</a> reported a novel 3-basepair deletion in the NSDHL gene (c.896_898del), resulting in deletion of the amino acid valine at position 299 (val299del). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>CK Syndrome</em></strong></p><p>
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CK syndrome (<a href="/entry/300831">300831</a>) is an X-linked recessive mental retardation syndrome associated with seizures, thin body habitus, and cortical malformations. Only males are affected; carrier females are unaffected. In affected members of the original family with CK syndrome reported by <a href="#4" class="mim-tip-reference" title="du Souich, C., Chou, A., Yin, J., Oh, T., Nelson, T. N., Hurlburt, J., Arbour, L., Friedlander, R., McGillivray, B. C., Tyshchenko, N., Rump, A., Poskitt, K. J., Demos, M. K., Van Allen, M. I., Boerkoel, C. F. <strong>Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.</strong> Am. J. Med. Genet. 149A: 2469-2478, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19842190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19842190</a>] [<a href="https://doi.org/10.1002/ajmg.a.33071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19842190">du Souich et al. (2009)</a>, <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> identified a hemizygous mutation in the NSDHL gene (<a href="#0008">300275.0008</a>). A second affected family, originally reported by <a href="#14" class="mim-tip-reference" title="Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others. <strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong> Nature Genet. 41: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377476</a>] [<a href="https://doi.org/10.1038/ng.367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19377476">Tarpey et al. (2009)</a>, was found to have a different mutation (<a href="#0008">300275.0008</a>). In vitro functional expression studies by <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> showed that both mutations acted as temperature-sensitive hypomorphic alleles, resulting in a less severe phenotype than that observed with mutations causing CHILD syndrome. <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> suggested that the CK syndrome phenotype resulted mainly from accumulation of toxic methylsterol, not necessarily from cholesterol deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21129721+19842190+19377476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the NSDHL gene and susceptibility to migraine without aura, see MGR2 (<a href="/entry/300125">300125</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Angel, T. A., Faust, C. J., Gonzales, J. C., Kenwrick, S., Lewis, R. A., Herman, G. E. <strong>Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28.</strong> Mammalian Genome 4: 171-176, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8439729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8439729</a>] [<a href="https://doi.org/10.1007/BF00352233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8439729">Angel et al. (1993)</a> mapped the 'bare patches' (Bpa) and 'striated' (Str) mouse mutations, which behave as X-linked dominant male-lethal mutations, to a region of the X chromosome homologous to human Xq28. <a href="#10" class="mim-tip-reference" title="Levin, M. L., Chatterjee, A., Pragliola, A., Worley, K. C., Wehnert, M., Zhuchenko, O., Smith, R. F., Lee, C. C., Herman, G. E. <strong>A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.</strong> Genome Res. 6: 465-477, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8828036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8828036</a>] [<a href="https://doi.org/10.1101/gr.6.6.465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8828036">Levin et al. (1996)</a> defined several candidate genes in this interval. <a href="#11" class="mim-tip-reference" title="Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P. R., Mallon, A.-M., Strivens, M. A., Bate, R., Miller, W., Rhodes, M., Brown, S. D. M., Herman, G. E. <strong>The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.</strong> Nature Genet. 22: 182-187, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369263</a>] [<a href="https://doi.org/10.1038/9700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10369263">Liu et al. (1999)</a> reported mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein, in 2 independent Bpa and 3 independent Str alleles. Quantitative analysis of sterols from tissues of affected Bpa mice supported a role for Nsdhl in cholesterol biosynthesis. The results demonstrated that Bpa and Str are allelic mutations and identified the first mammalian locus associated with an X-linked dominant, male-lethal phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10369263+8828036+8439729" 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>Mutant male embryos for several Nsdhl alleles die in midgestation with placental insufficiency. <a href="#3" class="mim-tip-reference" title="Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K. L., Herman, G. E. <strong>Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.</strong> Hum. Molec. Genet. 19: 364-373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19880419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19880419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19880419[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/10.1093/hmg/ddp502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19880419">Cunningham et al. (2010)</a> examined a role of the maternal genotype in such placental pathology. Prepregnancy plasma cholesterol levels were similar between wildtype and Bpa1H/+ dams fed a standard, cholesterol-free diet. However, there was a marked decrease in cholesterol levels between embryonic day (E) 8.5 and E10.5 for both genotypes. There was a significant lag between E11.5 and E13.5 (p = 0.0011) in the recovery of levels in Bpa1H/+ dams to their prepregnancy values. The authors generated transgenic mice that expressed human NSDHL and rescued the male lethality of the Bpa1H null allele. In Bpa1H/+ female embryos where the mutant X chromosome was transmitted from a heterozygous mother or a rescued mutant father, placental areas at E10.5 were 50% less than wildtype. Expression of Nsdhl in trophoblast lineages of the placenta and yolk sac endoderm (which occur only from the maternally inherited allele in a female embryo) had the largest effect on placental area (p less than 0.0001). The maternal genotype had a smaller effect, independent of the fetal genotype (p = 0.024). <a href="#3" class="mim-tip-reference" title="Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K. L., Herman, G. E. <strong>Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.</strong> Hum. Molec. Genet. 19: 364-373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19880419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19880419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19880419[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/10.1093/hmg/ddp502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19880419">Cunningham et al. (2010)</a> concluded that there are significant effects of the mother and fetal membranes on pregnancy outcome, and implicated a role for cholesterol homeostasis during human pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19880419" 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="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> found expression of the NSDHL gene in developing cortical neurons and glia in both human and mouse. Embryonic forebrains from male mice with a loss-of-function Nsdhl allele showed a thin and disorganized cortex with increased numbers of apoptotic cells and decreased cellular proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21129721" 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://www.ncbi.nlm.nih.gov/clinvar?term=300275[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p><a href="#8" class="mim-tip-reference" title="Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong> Am. J. Med. Genet. 90: 339-346, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>]" pmid="10710235">Konig et al. (2000)</a> identified 3 patients (1 sporadic and a mother and daughter) with CHILD syndrome (<a href="/entry/308050">308050</a>) who had a C-to-T transition in exon 4 (314C-T) of the NSDHL gene, predicted to result in an ala105-to-val missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710235" 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="Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong> Am. J. Med. Genet. 90: 339-346, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>]" pmid="10710235">Konig et al. (2000)</a> identified a patient with CHILD syndrome (<a href="/entry/308050">308050</a>) who had a G-to-A transition in exon 6 (613G-A) of the NSDHL gene, predicted to result in a gly205-to-ser missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710235" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894902 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894902;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012181" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012181" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012181</a>
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<p><a href="#8" class="mim-tip-reference" title="Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong> Am. J. Med. Genet. 90: 339-346, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>]" pmid="10710235">Konig et al. (2000)</a> identified a patient with CHILD syndrome (<a href="/entry/308050">308050</a>) who had a C-to-T transition in exon 6 (628C-T) of the NSDHL gene, predicted to result in a gln210-to-ter nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710235" 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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<strong>.0004 CHILD SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894903 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894903;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894903?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012182" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012182" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012182</a>
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<p><a href="#8" class="mim-tip-reference" title="Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong> Am. J. Med. Genet. 90: 339-346, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>]" pmid="10710235">Konig et al. (2000)</a> identified a 46,XY male with CHILD syndrome (<a href="/entry/308050">308050</a>) who had a C-to-T transition in exon 3 (262C-T) of the NSDHL gene, predicted to result in an arg88-to-ter nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710235" 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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<strong>.0005 CHILD SYNDROME</strong>
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NSDHL, ALA182PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894904 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894904;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012183" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012183" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012183</a>
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<p>In an unusual female patient with a symmetric distribution of a CHILD nevus (<a href="/entry/308050">308050</a>), <a href="#9" class="mim-tip-reference" title="Konig, A., Happle, R., Fink-Puches, R., Soyer, H. P., Bornholdt, D., Engel, H., Grzeschik, K.-H. <strong>A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.</strong> J. Am. Acad. Derm. 46: 594-596, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907515</a>] [<a href="https://doi.org/10.1067/mjd.2002.113680" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11907515">Konig et al. (2002)</a> found a novel heterozygous mutation (544G-C) in exon 6 of the NSDHL gene resulting in an ala182-to-pro missense mutation (A182P). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907515" 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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<span class="mim-font">
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<strong>.0006 CHILD SYNDROME</strong>
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NSDHL, GLU151TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894905 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894905;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012184" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012184" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012184</a>
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<p>In a child with left-sided CHILD syndrome (<a href="/entry/308050">308050</a>), <a href="#7" class="mim-tip-reference" title="Hummel, M., Cunningham, D., Mullett, C. J., Kelley, R. I., Herman, G. E. <strong>Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.</strong> Am. J. Med. Genet. 122A: 246-251, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966526</a>] [<a href="https://doi.org/10.1002/ajmg.a.20248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966526">Hummel et al. (2003)</a> identified a glu151-to-ter (E151X) mutation in the NSDHL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966526" 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 id="0007" class="mim-anchor"></a>
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<strong>.0007 CK SYNDROME</strong>
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NSDHL, 1-BP DUP, 1098T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909834;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020428" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020428" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020428</a>
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<p>In affected members of a 3-generation family with CK syndrome (<a href="/entry/300831">300831</a>), <a href="#14" class="mim-tip-reference" title="Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others. <strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong> Nature Genet. 41: 535-543, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377476</a>] [<a href="https://doi.org/10.1038/ng.367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19377476">Tarpey et al. (2009)</a> and <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> identified a hemizygous 1-bp duplication (1098dupT) in the NDSHL gene, resulting in an arg367-to-ser (R367S) substitution, frameshift, and extension of the protein past the native stop codon and into the 3-prime untranslated region. The mutation was not identified in 224 controls. By studies in patient cells, HEK293 cells, and yeast cells, <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> showed that the mutant protein was temperature-sensitive: at 30 degrees Celsius, the protein was expressed, folded, localized, and functioned correctly, but at 37 degrees, the protein was improperly folded and degraded, resulting in a loss of function. Affected males and obligate female carriers had normal plasma cholesterol, steroid hormone levels, and lipoprotein profiles, but cultured lymphoblastoid cells expressing the mutation showed sterol aberrations, such as accumulation of 4-methyl sterol intermediates, 4,4-dimethyl sterol intermediates, lathosterol, and desmosterol. Cerebrospinal fluid from an affected individual also showed increased methylsterol levels. <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> suggested that the phenotype resulted mainly from the accumulation of toxic methylsterols, not necessarily from cholesterol deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21129721+19377476" 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 id="0008" class="mim-anchor"></a>
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<strong>.0008 CK SYNDROME</strong>
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NSDHL, 3-BP DEL, 696GAA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909833 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909833;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020430" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020430" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020430</a>
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<p>In affected members of a large 5-generation family of Russian descent with CK syndrome (<a href="/entry/300831">300831</a>) reported by <a href="#4" class="mim-tip-reference" title="du Souich, C., Chou, A., Yin, J., Oh, T., Nelson, T. N., Hurlburt, J., Arbour, L., Friedlander, R., McGillivray, B. C., Tyshchenko, N., Rump, A., Poskitt, K. J., Demos, M. K., Van Allen, M. I., Boerkoel, C. F. <strong>Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.</strong> Am. J. Med. Genet. 149A: 2469-2478, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19842190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19842190</a>] [<a href="https://doi.org/10.1002/ajmg.a.33071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19842190">du Souich et al. (2009)</a>, <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> identified a hemizygous 3-bp deletion (696delGAA) in exon 7 of the NSDHL gene, resulting in the deletion of residue lys232, which was predicted to disrupt the beta-pleated sheet. The phenotype was characterized by mild to severe mental retardation, infantile seizures, thin body habitus, dysmorphic facial features, and polymicrogyria/pachygyria. Studies in patient cells, HEK293 cells, and yeast cells indicated that the mutant protein was temperature-sensitive: at 30 degrees Celsius, the protein was expressed, folded, localized, and functioned correctly, but at 37 degrees, the protein was improperly folded and degraded, resulting in a loss of function. Affected males and obligate female carriers had normal plasma cholesterol, steroid hormone levels, and lipoprotein profiles, but cultured lymphoblastoid cells expressing the mutation showed sterol aberrations, such as accumulation of 4-methyl sterol intermediates, 4,4-dimethyl sterol intermediates, lathosterol, and desmosterol. Cerebrospinal fluid from an affected individual also showed increased methylsterol levels. <a href="#13" class="mim-tip-reference" title="McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others. <strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong> Am. J. Hum. Genet. 87: 905-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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/10.1016/j.ajhg.2010.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21129721">McLarren et al. (2010)</a> suggested that the phenotype resulted mainly from the accumulation of toxic methylsterols, not necessarily from cholesterol deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21129721+19842190" 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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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Angel1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Angel, T. A., Faust, C. J., Gonzales, J. C., Kenwrick, S., Lewis, R. A., Herman, G. E.
|
|
<strong>Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28.</strong>
|
|
Mammalian Genome 4: 171-176, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8439729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8439729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8439729" 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/BF00352233" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Caldas2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Caldas, H., Herman, G. E.
|
|
<strong>NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.</strong>
|
|
Hum. Molec. Genet. 12: 2981-2991, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14506130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14506130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14506130" 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/ddg321" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Cunningham2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K. L., Herman, G. E.
|
|
<strong>Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.</strong>
|
|
Hum. Molec. Genet. 19: 364-373, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19880419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19880419</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19880419[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=19880419" 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/ddp502" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="du Souich2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
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du Souich, C., Chou, A., Yin, J., Oh, T., Nelson, T. N., Hurlburt, J., Arbour, L., Friedlander, R., McGillivray, B. C., Tyshchenko, N., Rump, A., Poskitt, K. J., Demos, M. K., Van Allen, M. I., Boerkoel, C. F.
|
|
<strong>Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.</strong>
|
|
Am. J. Med. Genet. 149A: 2469-2478, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19842190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19842190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19842190" 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/ajmg.a.33071" target="_blank">Full Text</a>]
|
|
|
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|
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</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Happle1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W.
|
|
<strong>CHILD syndrome in a boy.</strong>
|
|
Am. J. Med. Genet. 62: 192-194, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J" target="_blank">Full Text</a>]
|
|
|
|
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</p>
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Heiss1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heiss, N. S., Rogner, U. C., Kioschis, P., Korn, B., Poustka, A.
|
|
<strong>Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5).</strong>
|
|
Genome Res. 6: 478-491, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8828037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8828037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8828037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1101/gr.6.6.478" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Hummel2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hummel, M., Cunningham, D., Mullett, C. J., Kelley, R. I., Herman, G. E.
|
|
<strong>Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.</strong>
|
|
Am. J. Med. Genet. 122A: 246-251, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.20248" target="_blank">Full Text</a>]
|
|
|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Konig2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H.
|
|
<strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong>
|
|
Am. J. Med. Genet. 90: 339-346, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Konig2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Konig, A., Happle, R., Fink-Puches, R., Soyer, H. P., Bornholdt, D., Engel, H., Grzeschik, K.-H.
|
|
<strong>A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.</strong>
|
|
J. Am. Acad. Derm. 46: 594-596, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11907515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11907515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11907515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1067/mjd.2002.113680" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Levin1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Levin, M. L., Chatterjee, A., Pragliola, A., Worley, K. C., Wehnert, M., Zhuchenko, O., Smith, R. F., Lee, C. C., Herman, G. E.
|
|
<strong>A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.</strong>
|
|
Genome Res. 6: 465-477, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8828036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8828036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8828036" 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/10.1101/gr.6.6.465" target="_blank">Full Text</a>]
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|
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|
|
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Liu1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P. R., Mallon, A.-M., Strivens, M. A., Bate, R., Miller, W., Rhodes, M., Brown, S. D. M., Herman, G. E.
|
|
<strong>The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.</strong>
|
|
Nature Genet. 22: 182-187, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10369263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10369263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369263" 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/10.1038/9700" target="_blank">Full Text</a>]
|
|
|
|
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Martinez2022" class="mim-anchor"></a>
|
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|
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|
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Martinez, R., Pena, C., Quiroga-Carrillo, M., Ordonez-Reyes, C., Rincon, J., Suarez-Obando, F., Nossa, S., Garcia, M. F.
|
|
<strong>Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.</strong>
|
|
Clin. Dysmorph. 31: 162-166, 2022.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394469" 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/10.1097/MCD.0000000000000422" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="McLarren2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others.
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<strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong>
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Am. J. Hum. Genet. 87: 905-914, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21129721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21129721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21129721[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=21129721" 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.ajhg.2010.11.004" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Tarpey2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others.
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<strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong>
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Nature Genet. 41: 535-543, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19377476" 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/10.1038/ng.367" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 09/14/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/7/2011<br>George E. Tiller - updated : 12/29/2010<br>George E. Tiller - updated : 1/11/2006<br>Felicity Collins - updated : 12/5/2003<br>Gary A. Bellus - updated : 4/5/2002
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen : 10/30/2000
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/14/2022
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<span class="mim-text-font">
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carol : 08/07/2019<br>carol : 12/19/2013<br>carol : 5/4/2012<br>ckniffin : 5/3/2012<br>terry : 9/28/2011<br>wwang : 2/9/2011<br>ckniffin : 2/7/2011<br>wwang : 1/12/2011<br>terry : 12/29/2010<br>wwang : 1/23/2006<br>terry : 1/11/2006<br>carol : 12/5/2003<br>alopez : 4/5/2002<br>alopez : 4/5/2002<br>carol : 10/30/2000<br>carol : 10/30/2000
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<span class="mim-font">
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<strong>*</strong> 300275
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<h3>
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<span class="mim-font">
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NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NSDHL</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 17608003, 773329005;
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<strong>
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<em>
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Cytogenetic location: Xq28
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Genomic coordinates <span class="small">(GRCh38)</span> : X:152,831,063-152,869,729 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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Xq28
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<span class="mim-font">
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CHILD syndrome
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<span class="mim-font">
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308050
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<td>
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<span class="mim-font">
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X-linked dominant
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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 class="mim-font">
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CK syndrome
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</td>
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<span class="mim-font">
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300831
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<td>
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<span class="mim-font">
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X-linked recessive
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<td>
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<span class="mim-font">
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3
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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-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>The NSDHL gene encodes NAD(P)H steroid dehydrogenase-like protein, which is a C4 demethylase involved in postsqualene cholesterol biosynthesis (Caldas and Herman, 2003). </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Heiss et al. (1996) identified the human NSDHL gene, the homolog of the mouse gene mutant in the 'bare patches' (Bpa) and 'striated' (Str) phenotypes, at Xq28. </p><p>McLarren et al. (2010) found expression of the NSDHL gene in developing cortical neurons and glia in both human and mouse and noted that the enzyme localized to the surface of the endoplasmic reticulum and to lipid droplets. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</div>
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<span class="mim-text-font">
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<p>McLarren et al. (2010) noted that the NSDHL gene contains 8 exons. </p>
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</span>
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<br />
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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>McLarren et al. (2010) noted that the NSDHL gene maps to chromosome Xq28. </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>Gene Function</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>Caldas and Herman (2003) investigated the subcellular localization of wildtype and mutant murine Nsdhl proteins in transfected COS-7 cells using confocal microscopy. In addition to endoplasmic reticulum (ER)- localization commonly found for enzymes of post-squalene cholesterol biosynthesis, the authors identified a novel association of NSDHL with lipid droplets, which are ER-derived cytoplasmic structures containing a neutral lipid core. Trafficking through the Golgi was necessary for ER membrane localization of the protein. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>CHILD Syndrome</em></strong></p><p>
|
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Konig et al. (2000) analyzed 6 patients with CHILD syndrome (308050) for mutations in the NSDHL gene and in the EBP gene (300205), which functions downstream of NSDHL in a later step of cholesterol biosynthesis. Four of the cases were sporadic, including one in a previously reported 46,XY male (Happle et al., 1996), and 2 were familial cases in a mother and her daughter. No mutations were identified in the EBP gene; however, mutations were identified in the NSDHL gene in all of the patients. The NSDHL mutations included 2 missense mutations (300275.0001-300275.0002) and 2 nonsense mutations (300275.0003-300275.0004). One of these mutations was found in both the mother and daughter and in another patient, although based on their family history and ethnic background, they were highly unlikely to be related. The authors concluded that CHILD syndrome can be added to the list of developmental defects associated with mutations affecting cholesterol synthesis. </p><p>In a 37-year-old female with CHILD syndrome including torsional and angular deformities of the limbs, Martinez et al. (2022) reported a novel 3-basepair deletion in the NSDHL gene (c.896_898del), resulting in deletion of the amino acid valine at position 299 (val299del). </p><p><strong><em>CK Syndrome</em></strong></p><p>
|
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CK syndrome (300831) is an X-linked recessive mental retardation syndrome associated with seizures, thin body habitus, and cortical malformations. Only males are affected; carrier females are unaffected. In affected members of the original family with CK syndrome reported by du Souich et al. (2009), McLarren et al. (2010) identified a hemizygous mutation in the NSDHL gene (300275.0008). A second affected family, originally reported by Tarpey et al. (2009), was found to have a different mutation (300275.0008). In vitro functional expression studies by McLarren et al. (2010) showed that both mutations acted as temperature-sensitive hypomorphic alleles, resulting in a less severe phenotype than that observed with mutations causing CHILD syndrome. McLarren et al. (2010) suggested that the CK syndrome phenotype resulted mainly from accumulation of toxic methylsterol, not necessarily from cholesterol deficiency. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between variation in the NSDHL gene and susceptibility to migraine without aura, see MGR2 (300125).</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>Angel et al. (1993) mapped the 'bare patches' (Bpa) and 'striated' (Str) mouse mutations, which behave as X-linked dominant male-lethal mutations, to a region of the X chromosome homologous to human Xq28. Levin et al. (1996) defined several candidate genes in this interval. Liu et al. (1999) reported mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein, in 2 independent Bpa and 3 independent Str alleles. Quantitative analysis of sterols from tissues of affected Bpa mice supported a role for Nsdhl in cholesterol biosynthesis. The results demonstrated that Bpa and Str are allelic mutations and identified the first mammalian locus associated with an X-linked dominant, male-lethal phenotype. </p><p>Mutant male embryos for several Nsdhl alleles die in midgestation with placental insufficiency. Cunningham et al. (2010) examined a role of the maternal genotype in such placental pathology. Prepregnancy plasma cholesterol levels were similar between wildtype and Bpa1H/+ dams fed a standard, cholesterol-free diet. However, there was a marked decrease in cholesterol levels between embryonic day (E) 8.5 and E10.5 for both genotypes. There was a significant lag between E11.5 and E13.5 (p = 0.0011) in the recovery of levels in Bpa1H/+ dams to their prepregnancy values. The authors generated transgenic mice that expressed human NSDHL and rescued the male lethality of the Bpa1H null allele. In Bpa1H/+ female embryos where the mutant X chromosome was transmitted from a heterozygous mother or a rescued mutant father, placental areas at E10.5 were 50% less than wildtype. Expression of Nsdhl in trophoblast lineages of the placenta and yolk sac endoderm (which occur only from the maternally inherited allele in a female embryo) had the largest effect on placental area (p less than 0.0001). The maternal genotype had a smaller effect, independent of the fetal genotype (p = 0.024). Cunningham et al. (2010) concluded that there are significant effects of the mother and fetal membranes on pregnancy outcome, and implicated a role for cholesterol homeostasis during human pregnancy. </p><p>McLarren et al. (2010) found expression of the NSDHL gene in developing cortical neurons and glia in both human and mouse. Embryonic forebrains from male mice with a loss-of-function Nsdhl allele showed a thin and disorganized cortex with increased numbers of apoptotic cells and decreased cellular proliferation. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</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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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 CHILD SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
|
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<span class="mim-text-font">
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NSDHL, ALA105VAL
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<br />
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SNP: rs104894909,
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ClinVar: RCV000012179, RCV002512978
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>Konig et al. (2000) identified 3 patients (1 sporadic and a mother and daughter) with CHILD syndrome (308050) who had a C-to-T transition in exon 4 (314C-T) of the NSDHL gene, predicted to result in an ala105-to-val missense mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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|
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 CHILD SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NSDHL, GLY205SER
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<br />
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SNP: rs104894901,
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ClinVar: RCV000012180
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Konig et al. (2000) identified a patient with CHILD syndrome (308050) who had a G-to-A transition in exon 6 (613G-A) of the NSDHL gene, predicted to result in a gly205-to-ser missense mutation. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
|
|
</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CHILD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
NSDHL, GLN210TER
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|
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<br />
|
|
|
|
SNP: rs104894902,
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|
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ClinVar: RCV000012181
|
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|
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</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Konig et al. (2000) identified a patient with CHILD syndrome (308050) who had a C-to-T transition in exon 6 (628C-T) of the NSDHL gene, predicted to result in a gln210-to-ter nonsense mutation. </p>
|
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</span>
|
|
</div>
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<div>
|
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<br />
|
|
</div>
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|
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</div>
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|
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CHILD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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NSDHL, ARG88TER
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<br />
|
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|
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SNP: rs104894903,
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|
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gnomAD: rs104894903,
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|
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ClinVar: RCV000012182
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Konig et al. (2000) identified a 46,XY male with CHILD syndrome (308050) who had a C-to-T transition in exon 3 (262C-T) of the NSDHL gene, predicted to result in an arg88-to-ter nonsense mutation. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CHILD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSDHL, ALA182PRO
|
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|
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|
|
<br />
|
|
|
|
SNP: rs104894904,
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|
|
|
|
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|
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ClinVar: RCV000012183
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an unusual female patient with a symmetric distribution of a CHILD nevus (308050), Konig et al. (2002) found a novel heterozygous mutation (544G-C) in exon 6 of the NSDHL gene resulting in an ala182-to-pro missense mutation (A182P). </p>
|
|
</span>
|
|
</div>
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CHILD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSDHL, GLU151TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894905,
|
|
|
|
|
|
|
|
ClinVar: RCV000012184
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with left-sided CHILD syndrome (308050), Hummel et al. (2003) identified a glu151-to-ter (E151X) mutation in the NSDHL gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CK SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSDHL, 1-BP DUP, 1098T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909834,
|
|
|
|
|
|
|
|
ClinVar: RCV000020428
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 3-generation family with CK syndrome (300831), Tarpey et al. (2009) and McLarren et al. (2010) identified a hemizygous 1-bp duplication (1098dupT) in the NDSHL gene, resulting in an arg367-to-ser (R367S) substitution, frameshift, and extension of the protein past the native stop codon and into the 3-prime untranslated region. The mutation was not identified in 224 controls. By studies in patient cells, HEK293 cells, and yeast cells, McLarren et al. (2010) showed that the mutant protein was temperature-sensitive: at 30 degrees Celsius, the protein was expressed, folded, localized, and functioned correctly, but at 37 degrees, the protein was improperly folded and degraded, resulting in a loss of function. Affected males and obligate female carriers had normal plasma cholesterol, steroid hormone levels, and lipoprotein profiles, but cultured lymphoblastoid cells expressing the mutation showed sterol aberrations, such as accumulation of 4-methyl sterol intermediates, 4,4-dimethyl sterol intermediates, lathosterol, and desmosterol. Cerebrospinal fluid from an affected individual also showed increased methylsterol levels. McLarren et al. (2010) suggested that the phenotype resulted mainly from the accumulation of toxic methylsterols, not necessarily from cholesterol deficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CK SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
NSDHL, 3-BP DEL, 696GAA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909833,
|
|
|
|
|
|
|
|
ClinVar: RCV000020430
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large 5-generation family of Russian descent with CK syndrome (300831) reported by du Souich et al. (2009), McLarren et al. (2010) identified a hemizygous 3-bp deletion (696delGAA) in exon 7 of the NSDHL gene, resulting in the deletion of residue lys232, which was predicted to disrupt the beta-pleated sheet. The phenotype was characterized by mild to severe mental retardation, infantile seizures, thin body habitus, dysmorphic facial features, and polymicrogyria/pachygyria. Studies in patient cells, HEK293 cells, and yeast cells indicated that the mutant protein was temperature-sensitive: at 30 degrees Celsius, the protein was expressed, folded, localized, and functioned correctly, but at 37 degrees, the protein was improperly folded and degraded, resulting in a loss of function. Affected males and obligate female carriers had normal plasma cholesterol, steroid hormone levels, and lipoprotein profiles, but cultured lymphoblastoid cells expressing the mutation showed sterol aberrations, such as accumulation of 4-methyl sterol intermediates, 4,4-dimethyl sterol intermediates, lathosterol, and desmosterol. Cerebrospinal fluid from an affected individual also showed increased methylsterol levels. McLarren et al. (2010) suggested that the phenotype resulted mainly from the accumulation of toxic methylsterols, not necessarily from cholesterol deficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Angel, T. A., Faust, C. J., Gonzales, J. C., Kenwrick, S., Lewis, R. A., Herman, G. E.
|
|
<strong>Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28.</strong>
|
|
Mammalian Genome 4: 171-176, 1993.
|
|
|
|
|
|
[PubMed: 8439729]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00352233]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caldas, H., Herman, G. E.
|
|
<strong>NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.</strong>
|
|
Hum. Molec. Genet. 12: 2981-2991, 2003.
|
|
|
|
|
|
[PubMed: 14506130]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddg321]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cunningham, D., Talabere, T., Bir, N., Kennedy, M., McBride, K. L., Herman, G. E.
|
|
<strong>Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.</strong>
|
|
Hum. Molec. Genet. 19: 364-373, 2010.
|
|
|
|
|
|
[PubMed: 19880419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp502]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
du Souich, C., Chou, A., Yin, J., Oh, T., Nelson, T. N., Hurlburt, J., Arbour, L., Friedlander, R., McGillivray, B. C., Tyshchenko, N., Rump, A., Poskitt, K. J., Demos, M. K., Van Allen, M. I., Boerkoel, C. F.
|
|
<strong>Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.</strong>
|
|
Am. J. Med. Genet. 149A: 2469-2478, 2009.
|
|
|
|
|
|
[PubMed: 19842190]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.33071]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Happle, R., Effendy, I., Megahed, M., Orlow, S. J., Kuster, W.
|
|
<strong>CHILD syndrome in a boy.</strong>
|
|
Am. J. Med. Genet. 62: 192-194, 1996.
|
|
|
|
|
|
[PubMed: 8882402]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heiss, N. S., Rogner, U. C., Kioschis, P., Korn, B., Poustka, A.
|
|
<strong>Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5).</strong>
|
|
Genome Res. 6: 478-491, 1996.
|
|
|
|
|
|
[PubMed: 8828037]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gr.6.6.478]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hummel, M., Cunningham, D., Mullett, C. J., Kelley, R. I., Herman, G. E.
|
|
<strong>Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.</strong>
|
|
Am. J. Med. Genet. 122A: 246-251, 2003.
|
|
|
|
|
|
[PubMed: 12966526]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20248]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Konig, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.-H.
|
|
<strong>Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.</strong>
|
|
Am. J. Med. Genet. 90: 339-346, 2000.
|
|
|
|
|
|
[PubMed: 10710235]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Konig, A., Happle, R., Fink-Puches, R., Soyer, H. P., Bornholdt, D., Engel, H., Grzeschik, K.-H.
|
|
<strong>A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.</strong>
|
|
J. Am. Acad. Derm. 46: 594-596, 2002.
|
|
|
|
|
|
[PubMed: 11907515]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1067/mjd.2002.113680]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Levin, M. L., Chatterjee, A., Pragliola, A., Worley, K. C., Wehnert, M., Zhuchenko, O., Smith, R. F., Lee, C. C., Herman, G. E.
|
|
<strong>A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.</strong>
|
|
Genome Res. 6: 465-477, 1996.
|
|
|
|
|
|
[PubMed: 8828036]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gr.6.6.465]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P. R., Mallon, A.-M., Strivens, M. A., Bate, R., Miller, W., Rhodes, M., Brown, S. D. M., Herman, G. E.
|
|
<strong>The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.</strong>
|
|
Nature Genet. 22: 182-187, 1999.
|
|
|
|
|
|
[PubMed: 10369263]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/9700]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martinez, R., Pena, C., Quiroga-Carrillo, M., Ordonez-Reyes, C., Rincon, J., Suarez-Obando, F., Nossa, S., Garcia, M. F.
|
|
<strong>Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.</strong>
|
|
Clin. Dysmorph. 31: 162-166, 2022.
|
|
|
|
|
|
[PubMed: 35394469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000422]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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McLarren, K. W., Severson, T. M., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., and 28 others.
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<strong>Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.</strong>
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Am. J. Hum. Genet. 87: 905-914, 2010.
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[PubMed: 21129721]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.11.004]
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Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., Stephens, P., Blow, M., and 67 others.
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<strong>A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.</strong>
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Nature Genet. 41: 535-543, 2009.
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[PubMed: 19377476]
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[Full Text: https://doi.org/10.1038/ng.367]
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Sonja A. Rasmussen - updated : 09/14/2022<br>Cassandra L. Kniffin - updated : 2/7/2011<br>George E. Tiller - updated : 12/29/2010<br>George E. Tiller - updated : 1/11/2006<br>Felicity Collins - updated : 12/5/2003<br>Gary A. Bellus - updated : 4/5/2002
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Sonja A. Rasmussen : 10/30/2000
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