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Entry
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- *300205 - EMOPAMIL-BINDING PROTEIN; EBP
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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">*300205</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300205">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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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=ENSG00000147155;t=ENST00000495186" 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=10682" 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=300205" 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="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=ENSG00000147155;t=ENST00000495186" 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_006579" 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_006579" 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=300205" 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=02192&isoform_id=02192_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/EBP" 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/780263,5729810,16306735,16306768,17374795,28277024,39103669,48145747,49457141,119571158,119571159,119571160,674842645" 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/Q15125" 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=10682" 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=ENSG00000147155;t=ENST00000495186" 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=EBP" 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=EBP" 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+10682" 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/EBP" 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:10682" 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/10682" 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=ENST00000651615.1&hgg_start=48521808&hgg_end=48528716&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:3133" 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:3133" 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/ebp" 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=300205[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=300205[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/EBP/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/ENSG00000147155" 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.ebi.ac.uk/gwas/search?query=EBP" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=EBP" 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=EBP" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EBP&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/PA27587" 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:3133" 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:107822" 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/EBP#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:107822" 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/10682/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://www.orthodb.org/?ncbi=10682" 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="https://zfin.org/ZDB-GENE-040718-12" 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:10682" 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=EBP&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> 398719004, 398958000<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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300205
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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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EMOPAMIL-BINDING PROTEIN; EBP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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3-BETA-HYDROXYSTEROID-DELTA-8,DELTA-7 ISOMERASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="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=EBP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EBP</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/249?start=-3&limit=10&highlight=249">Xp11.23</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:48521808-48528716&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:48,521,808-48,528,716</a> </span>
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</em>
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</strong>
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<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>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=302960,300960" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/249?start=-3&limit=10&highlight=249">
|
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Xp11.23
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Chondrodysplasia punctata, 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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<a href="/entry/302960"> 302960 </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">
|
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MEND 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/300960"> 300960 </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 recessive">XLR</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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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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<p>The EBP gene encodes an integral membrane protein located mainly in the endoplasmic reticulum that functions as a key enzyme in the final steps of the sterol biosynthesis pathway (summary by <a href="#13" class="mim-tip-reference" title="Hartill, V. L., Tysoe, C., Manning, N., Dobbie, A., Santra, S., Walter, J., Caswell, R., Koster, J., Waterham, H., Hobson, E. <strong>An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.</strong> Am. J. Med. Genet. 164A: 907-914, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459067</a>] [<a href="https://doi.org/10.1002/ajmg.a.36368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459067">Hartill et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24459067" 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>EBP was originally cloned as a delta-receptor binding target for the phenylalkylamine calcium-ion antagonist emopamil, an antiischemic drug in animal models of stroke (<a href="#11" class="mim-tip-reference" title="Hanner, M., Moebius, F. F., Weber, F., Grabner, M., Striessnig, J., Glossmann, H. <strong>Phenylalkylamine Ca(2+) antagonist binding protein: molecular cloning, tissue distribution, and heterologous expression.</strong> J. Biol. Chem. 270: 7551-7557, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7706302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7706302</a>] [<a href="https://doi.org/10.1074/jbc.270.13.7551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7706302">Hanner et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7706302" 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>EBP was shown to bind a number of structurally diverse molecules, including the immunosuppressant SR31747A (<a href="#22" class="mim-tip-reference" title="Labit-Le Bouteiller, C., Jamme, M. F., David, M., Silve, S., Lanau, C., Dhers, C., Picard, C., Rahier, A., Taton, M., Loison, G., Caput, D., Ferrara, P., Lupker, J. <strong>Antiproliferative effects of SR31747A in animal cell lines are mediated by inhibition of cholesterol biosynthesis at the sterol isomerase step.</strong> Europ. J. Biochem. 256: 342-349, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9760173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9760173</a>] [<a href="https://doi.org/10.1046/j.1432-1327.1998.2560342.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9760173">Labit-Le Bouteiller et al., 1998</a>) and the chemotherapeutic agent tamoxifen (<a href="#6" class="mim-tip-reference" title="Cho, S. Y., Kim, J. H., Paik, Y. K. <strong>Cholesterol biosynthesis from lanosterol: differential inhibition of sterol delta 8-isomerase and other lanosterol-converting enzymes by tamoxifen.</strong> Molec. Cells 8: 233-239, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9638657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9638657</a>]" pmid="9638657">Cho et al., 1998</a>). EBP was shown to function as a delta(8)-delta(7) sterol isomerase by complementation of a yeast erg2 mutant (<a href="#27" class="mim-tip-reference" title="Silve, S., Dupuy, P. H., Labit-Lebouteiller, C., Kaghad, M., Chalon, P., Rahier, A., Taton, M., Lupker, J., Shire, D., Loison, G. <strong>Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta(8)-delta(7) sterol isomerase activity in yeast.</strong> J. Biol. Chem. 271: 22434-22440, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798407</a>] [<a href="https://doi.org/10.1074/jbc.271.37.22434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798407">Silve et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9760173+9638657+8798407" 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>High-throughput chemical screening approaches have identified small molecules that stimulate the formation of oligodendrocytes from oligodendrocyte progenitor cells and functionally enhance remyelination in vivo. <a href="#17" class="mim-tip-reference" title="Hubler, Z., Allimuthu, D., Bederman, I., Elitt, M. S., Madhavan, M., Allan, K. C., Shick, H. E., Garrison, E., Karl, M. T., Factor, D. C., Nevin, Z. S., Sax, J. L. <strong>{and 12 others}: Accumulation of 8,9-unsaturated sterols drives oligodendrocyte formation and remyelination.</strong> Nature 560: 372-376, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30046109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30046109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30046109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-018-0360-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30046109">Hubler et al. (2018)</a> showed that a wide range of these promyelinating small molecules function not through their canonical targets but by directly inhibiting CYP51 (<a href="/entry/601637">601637</a>), TM7SF2 (<a href="/entry/603414">603414</a>), or EBP, a narrow range of enzymes within the cholesterol biosynthesis pathway. Subsequent accumulation of the 8,9-unsaturated sterol substrates of these enzymes is a key mechanistic node that promotes oligodendrocyte formation, as 8,9-unsaturated sterols are effective when supplied to oligodendrocyte progenitor cells in purified form whereas analogous sterols that lack this structural feature have no effect. <a href="#17" class="mim-tip-reference" title="Hubler, Z., Allimuthu, D., Bederman, I., Elitt, M. S., Madhavan, M., Allan, K. C., Shick, H. E., Garrison, E., Karl, M. T., Factor, D. C., Nevin, Z. S., Sax, J. L. <strong>{and 12 others}: Accumulation of 8,9-unsaturated sterols drives oligodendrocyte formation and remyelination.</strong> Nature 560: 372-376, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30046109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30046109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30046109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-018-0360-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30046109">Hubler et al. (2018)</a> concluded that their results defined a unifying sterol-based mechanism of action for most known small molecule enhancers of oligodendrocyte formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30046109" 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="#11" class="mim-tip-reference" title="Hanner, M., Moebius, F. F., Weber, F., Grabner, M., Striessnig, J., Glossmann, H. <strong>Phenylalkylamine Ca(2+) antagonist binding protein: molecular cloning, tissue distribution, and heterologous expression.</strong> J. Biol. Chem. 270: 7551-7557, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7706302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7706302</a>] [<a href="https://doi.org/10.1074/jbc.270.13.7551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7706302">Hanner et al. (1995)</a> and <a href="#25" class="mim-tip-reference" title="Schindelhauer, D., Hellebrand, H., Grimm, L., Bader, I., Meitinger, T., Wehnert, M., Ross, M., Meindl, A. <strong>Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.</strong> Genome Res. 6: 1056-1069, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8938429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8938429</a>] [<a href="https://doi.org/10.1101/gr.6.11.1056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8938429">Schindelhauer et al. (1996)</a> mapped the EBP gene to Xp11.23-p11.22 by radiation hybrid and FISH analysis. Obviously an earlier assignment of CDPX2 to Xq28 was an error. <a href="#29" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. <strong>Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.</strong> Hum. Genet. 89: 659-665, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355069</a>] [<a href="https://doi.org/10.1007/BF00221958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355069">Traupe et al. (1992)</a> had claimed exclusion of Xp11 as the site of the mutation in X-linked dominant chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>); molecular studies in this family by <a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> demonstrated that Xp11 is, in fact, not excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+8938429+7706302+1355069" 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="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> suggested that the loss of males in utero may be related to the presence of toxic sterol intermediates. The fact that mutations in the gene encoding 7-dehydrocholesterol reductase (DHCR7; <a href="/entry/602858">602858</a>), the final enzyme of cholesterol biosynthesis, cause Smith-Lemli-Opitz syndrome (SLOS; <a href="/entry/270400">270400</a>), suggests a direct involvement for abnormal cholesterol biosynthesis in some features of the Td/CDPX2 phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391218" 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="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> identified heterozygous mutations in the EBP gene (see, e.g., <a href="#0001">300205.0001</a>-<a href="#0002">300205.0002</a>) in 7 of 8 female patients with X-linked dominant chondrodysplasia punctata-2 CDPX2 (<a href="/entry/302960">302960</a>). Of the 7, 5 mutations were predicted to be complete null alleles (4 nonsense single-base substitutions and 1 intragenic deletion producing a frameshift and truncated protein). An in-frame 3-bp deletion and 2 identical nonsense mutations (R63X) involved the same potential methylated CpG dinucleotide, which may represent a 'hotspot' for mutations. The single missense mutation R110Q, like Td, altered a conserved amino acid; it was positioned only 3 amino acids distal to the Td substitution in the same cytoplasmic domain of the isomerase protein. One of the families with CDPX2 investigated by <a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> had been reported by <a href="#29" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. <strong>Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.</strong> Hum. Genet. 89: 659-665, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355069</a>] [<a href="https://doi.org/10.1007/BF00221958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355069">Traupe et al. (1992)</a> and by <a href="#7" class="mim-tip-reference" title="Clayton, P. T., Kalter, D. C., Atherton, D. J., Besley, G. T., Broadhead, D. M. <strong>Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome.</strong> J. Inherit. Metab. Dis. 12: 358-360, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512444</a>] [<a href="https://doi.org/10.1007/BF03335422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512444">Clayton et al. (1989)</a>; another family had been reported by <a href="#16" class="mim-tip-reference" title="Holmes, R. D., Wilson, G. N., Hajra, A. K. <strong>Peroxisomal enzyme deficiency in the Conradi-Hunerman (sic) form of chondrodysplasia punctata.</strong> New Eng. J. Med. (Letter) 316: 1608 only, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3587298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3587298</a>] [<a href="https://doi.org/10.1056/NEJM198706183162517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3587298">Holmes et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+2512444+1355069+3587298" 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>Simultaneously and independently, <a href="#5" class="mim-tip-reference" title="Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D. <strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong> Nature Genet. 22: 291-294, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391219</a>] [<a href="https://doi.org/10.1038/10357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391219">Braverman et al. (1999)</a> used SSCP analysis and sequencing of genomic DNA to find heterozygous EBP mutations in all 7 cases of CDPX2 studied. They confirmed the functional significance of 2 missense alleles by expressing them in a sterol-delta(8)-isomerase-deficient yeast strain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391219" 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>Because of the clinical similarities between X-linked dominant chondrodysplasia punctata-2 and CHILD syndrome (<a href="/entry/308050">308050</a>), <a href="#10" class="mim-tip-reference" title="Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I. <strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8,delta-7-isomerase.</strong> Am. J. Med. Genet. 90: 328-335, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710233</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10710233">Grange et al. (2000)</a> analyzed plasma sterols in a patient with typical CHILD syndrome. The levels of 8-dehydrocholesterol and 8(9)-cholestenol were increased in this patient to the same degree as in CDPX2 patients. The authors subsequently identified a nonsense mutation in exon 3 of the patient's 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase gene. The authors suggested that at least some cases of CHILD syndrome are caused by 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase deficiency and are allelic to CDPX2, although the almost exclusively unilateral distribution of abnormalities in CHILD syndrome versus the bilateral disease of CDPX2 remained to be explained. <a href="#21" 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> stated that the association of CHILD syndrome with mutation in the EBP gene by <a href="#10" class="mim-tip-reference" title="Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I. <strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8,delta-7-isomerase.</strong> Am. J. Med. Genet. 90: 328-335, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710233</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10710233">Grange et al. (2000)</a> was erroneous and was in fact a case of CDPX2 with predominantly unilateral involvement. <a href="#21" 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> pointed out that an X-linked dominant disorder usually showing an asymmetric involvement such as CDPX2 may give rise by way of exception to extreme lateralization, whereas the CHILD syndrome usually shows extreme lateralization but may exceptionally manifest itself in almost symmetrically arranged skin lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11907515+10710233" 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="#14" class="mim-tip-reference" title="Has, C., Bruckner-Tuderman, L., Muller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H. <strong>The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.</strong> Hum. Molec. Genet. 9: 1951-1955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942423</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942423">Has et al. (2000)</a> analyzed the EBP gene in 7 independent families. They found 3 nonsense mutations and 2 frameshift mutations (1 deletion and 1 insertion). In 2 families, known mutations were identified. The authors found no mutations in a grandmother exhibiting minor disease symptoms (such as sectorial cataract) or in healthy parents with 2 affected girls. They hypothesized that these unrelated families may exemplify somatic and gonadal mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B. <strong>Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong> Genet. Med. 4: 434-438, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509714</a>] [<a href="https://doi.org/10.1097/00125817-200211000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509714">Herman et al. (2002)</a> searched for mutations in 26 females with suspected X-linked dominant chondrodysplasia punctata. Mutations in the EBP gene were identified in 22 of the 26 females studied, including 20 of the 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations were novel. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia. <a href="#15" class="mim-tip-reference" title="Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B. <strong>Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong> Genet. Med. 4: 434-438, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509714</a>] [<a href="https://doi.org/10.1097/00125817-200211000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509714">Herman et al. (2002)</a> concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509714" 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>MEND Syndrome</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Metzenberg, A. B. <strong>Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.</strong> Am. J. Med. Genet. 116A: 249-254, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503101</a>] [<a href="https://doi.org/10.1002/ajmg.a.10849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12503101">Milunsky et al. (2003)</a> described a hemizygous nonmosaic missense mutation in the EBP gene (L18P; <a href="#0013">300205.0013</a>) in a 2.5-year-old Caucasian male with developmental delay, hypotonia, seizures, and patchy hypopigmentation of the skin, consistent with MEND syndrome (MEND; <a href="/entry/300960">300960</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12503101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated boys with MEND syndrome, <a href="#9" class="mim-tip-reference" title="Furtado, L. V, Bayrak-Toydemir, P., Hulinsky, B., Damjanovich, K., Carey, J. C., Rope, A. F. <strong>A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.</strong> Am. J. Med. Genet. 152A: 2838-2844, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20949533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20949533</a>] [<a href="https://doi.org/10.1002/ajmg.a.33674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20949533">Furtado et al. (2010)</a> identified a hemizygous missense mutation in the EBP gene (W47C; <a href="#0014">300205.0014</a>). Functional studies of the variant were not performed, but both patients had increased levels of plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. The mutation was inherited from an unaffected mother in both cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20949533" 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>'Tattered' (Td) is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females. The phenotype of Td is similar to that seen in heterozygous human females with X-linked dominant chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>), as well as in another X-linked, semidominant mouse mutation, 'bare patches' (Bpa). The Bpa gene (NSDHL; <a href="/entry/300275">300275</a>) was identified by <a href="#23" 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>, who showed that it encodes a protein with homology to 3-beta-hydroxysteroid dehydrogenases that functions in one of the later steps of cholesterol biosynthesis. CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects. <a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> identified the defect in Td mice as a single amino acid substitution in the delta(8)-delta(7) sterol isomerase known as emopamil-binding protein (Ebp) and also identified alterations in human EBP in 7 unrelated CDPX2 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+10369263" 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>Of the genes mapped to a 0.9-cM interval in the proximal region of the mouse X chromosome, Ebp emerged as a candidate (<a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a>) based on the hypothesis that mutations in the phenotypically similar mutants Td and Bpa may involve proteins that act in the same metabolic pathway, and the observation that Ebp functions as a sterol isomerase (<a href="#27" class="mim-tip-reference" title="Silve, S., Dupuy, P. H., Labit-Lebouteiller, C., Kaghad, M., Chalon, P., Rahier, A., Taton, M., Lupker, J., Shire, D., Loison, G. <strong>Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta(8)-delta(7) sterol isomerase activity in yeast.</strong> J. Biol. Chem. 271: 22434-22440, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798407</a>] [<a href="https://doi.org/10.1074/jbc.271.37.22434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798407">Silve et al., 1996</a>). <a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> found that all Td mice showed a single nucleotide substitution at position 454, a G-to-A transition resulting in an amino acid substitution of arginine for glycine at amino acid position 107. <a href="#20" class="mim-tip-reference" title="Kelley, R. I., Wilcox, W. G., Smith, M., Kratz, L. E., Moser, A., Rimoin, D. S. <strong>Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.</strong> Am. J. Med. Genet. 83: 213-219, 1999. Note: Erratum: Am. J. Med. Genet. 84: 387 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10096601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10096601</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990319)83:3<213::aid-ajmg15>3.0.co;2-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10096601">Kelley et al. (1999)</a> demonstrated increased amounts of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues of 5 patients with CDPX2 or severe idiopathic CDP, consistent with a defect in delta(8)-delta(7) isomerase function. Quantitatively and qualitatively very similar sterol profiles were found in female mice with the Td mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10391218+10096601+8798407" 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 id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>17 Selected Examples</a>):</strong>
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<a href="/allelicVariants/300205" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300205[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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<strong>.0001 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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">rs104894798 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894798;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=rs104894798" 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=rs104894798" 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=RCV000012238" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012238" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012238</a>
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<p>In a sporadic case of X-linked dominant chondrodysplasia punctata-2 (CDPX2; <a href="/entry/302960">302960</a>) manifested by asymmetric rhizomelia, epiphyseal stippling, and hemivertebrae, as well as cataracts, <a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> found a 198G-A nucleotide change in the EBP gene predicted to cause a trp29-to-ter (W29X) change in the protein. The patient had collodion skin at birth; alopecia and coarse hair were later features. The patient also had Dandy-Walker malformation with ventriculomegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391218" 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>.0002 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
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EBP, ARG63TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894799 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894799;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=rs104894799" 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=rs104894799" 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=RCV000012239 OR RCV001574479" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012239, RCV001574479" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012239...</a>
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<p>In a familial case of chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) and in a sporadic case of CDPX, <a href="#8" class="mim-tip-reference" title="Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E. <strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong> Nature Genet. 22: 286-290, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>] [<a href="https://doi.org/10.1038/10350" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391218">Derry et al. (1999)</a> found a 298C-T nucleotide change in the EBP gene predicted to cause an arg63-to-ter (R63X) alteration in the protein. The familial case had asymmetric short stature, scoliosis, epiphyseal stippling, bilateral cataract, erythroderma, and patchy alopecia. In the sporadic case, asymmetric rhizomelia, postaxial polydactyly, scoliosis, bilateral clubfeet, erythroderma, and patchy alopecia were present, as well as hearing loss. Cataract was present in the right eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391218" 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 familial case of CDPX2 in which the diagnosis was made when the patient, of Hispanic extraction, was 13 years of age, <a href="#5" class="mim-tip-reference" title="Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D. <strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong> Nature Genet. 22: 291-294, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391219</a>] [<a href="https://doi.org/10.1038/10357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391219">Braverman et al. (1999)</a> found the same R63X mutation; they cited the nucleotide change as a 187C-T transition in exon 2 of the EBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391219" 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>.0003 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
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EBP, GLU80LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894800 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894800;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=rs104894800" 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=rs104894800" 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=RCV000012240 OR RCV002276542 OR RCV002512979" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012240, RCV002276542, RCV002512979" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012240...</a>
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<p>In a female of European extraction with chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) in whom the diagnosis was made at age 7 years, <a href="#5" class="mim-tip-reference" title="Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D. <strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong> Nature Genet. 22: 291-294, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391219</a>] [<a href="https://doi.org/10.1038/10357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391219">Braverman et al. (1999)</a> identified a 238G-A transition in exon 2 of the EBP gene, predicted to cause a glu80-to-lys (E80K) amino acid substitution in the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M. <strong>X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.</strong> Am. J. Med. Genet. 116A: 255-260, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503102</a>] [<a href="https://doi.org/10.1002/ajmg.a.10852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12503102">Aughton et al. (2003)</a> described this mutation in mosaic state in a boy with clinical features of CDPX2 (including those presumed to arise in females secondary to the functional mosaicism of random X inactivation). Other causes of CDPX2 in males, such as 47,XXY karyotype and hypomorphic (leaky) mutation, were excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12503102" 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 REMOVED FROM DATABASE</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">rs1569479885 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569479885;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=rs1569479885" 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=rs1569479885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a case of familial chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) with spontaneous abortion at the age of 30 weeks, <a href="#5" class="mim-tip-reference" title="Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D. <strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong> Nature Genet. 22: 291-294, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391219</a>] [<a href="https://doi.org/10.1038/10357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391219">Braverman et al. (1999)</a> found a G-to-T transversion at the first nucleotide of intron 3 of the EBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391219" 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">rs1569479901 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569479901;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=rs1569479901" 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=rs1569479901" 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=RCV000012242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012242</a>
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<p>In an isolated case of chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>), <a href="#14" class="mim-tip-reference" title="Has, C., Bruckner-Tuderman, L., Muller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H. <strong>The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.</strong> Hum. Molec. Genet. 9: 1951-1955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942423</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942423">Has et al. (2000)</a> found a 1-bp deletion of A at position 390 in exon 4 of the EBP gene, generating a frameshift and a premature termination signal at codon 137. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942423" 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>.0008 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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">rs1569480016 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569480016;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=rs1569480016" 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=rs1569480016" 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=RCV000012243" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012243" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012243</a>
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<p>In an isolated case of chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>), <a href="#14" class="mim-tip-reference" title="Has, C., Bruckner-Tuderman, L., Muller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H. <strong>The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.</strong> Hum. Molec. Genet. 9: 1951-1955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942423</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942423">Has et al. (2000)</a> found a 1-bp insertion of A following base 586 in exon 5 of the EBP gene, generating a frameshift and a premature termination signal at codon 196. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942423" 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>.0009 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
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EBP, TRP129TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894792 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894792;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=rs104894792" 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=rs104894792" 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=RCV000012244" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012244" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012244</a>
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<p><a href="#18" class="mim-tip-reference" title="Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y. <strong>Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.</strong> Am. J. Med. Genet. 94: 300-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038443</a>] [<a href="https://doi.org/10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038443">Ikegawa et al. (2000)</a> reported an isolated Japanese case with typical chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) with a 497G-A nucleotide change in exon 4 of the EBP gene, predicted to cause a trp129-to-ter (W129X) alteration in the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038443" 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>.0010 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
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EBP, GLN175TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894793 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894793;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=rs104894793" 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=rs104894793" 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=RCV000012245" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012245" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012245</a>
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<p><a href="#18" class="mim-tip-reference" title="Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y. <strong>Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.</strong> Am. J. Med. Genet. 94: 300-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038443</a>] [<a href="https://doi.org/10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038443">Ikegawa et al. (2000)</a> reported an isolated Japanese case with typical chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) with a 634C-T nucleotide change in exon 5 of the EBP gene, predicted to cause a gln175-to-ter (Q175X) alteration in the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038443" 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>.0011 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
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EBP, TRP196TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894794 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894794;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=rs104894794" 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=rs104894794" 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=RCV000012246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012246</a>
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<p><a href="#18" class="mim-tip-reference" title="Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y. <strong>Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.</strong> Am. J. Med. Genet. 94: 300-305, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038443</a>] [<a href="https://doi.org/10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038443">Ikegawa et al. (2000)</a> reported an isolated Japanese case with typical chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) with a 698G-A nucleotide change in exon 5 of the EBP gene, predicted to cause a trp196-to-ter (W196X) alteration in the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11038443" 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>.0012 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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> rs28935174 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28935174;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/rs28935174?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=rs28935174" 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=rs28935174" 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=RCV000012247 OR RCV003329229 OR RCV004795393" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012247, RCV003329229, RCV004795393" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012247...</a>
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<p><a href="#14" class="mim-tip-reference" title="Has, C., Bruckner-Tuderman, L., Muller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H. <strong>The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.</strong> Hum. Molec. Genet. 9: 1951-1955, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942423</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942423">Has et al. (2000)</a> described a family in which 2 children with chondrodysplasia punctata (CDPX2; <a href="/entry/302960">302960</a>) had an arg147-to-his (R147H) mutation of the EBP gene but showed differing severity of the disease. <a href="#26" class="mim-tip-reference" title="Shirahama, S., Miyahara, A., Kitoh, H., Honda, A., Kawase, A., Yamada, K., Mabuchi, A., Kura, H., Yokoyama, Y., Tsutsumi, M., Ikeda, T., Tanaka, N., Nishimura, G., Ohashi, H., Ikegawa, S. <strong>Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.</strong> Hum. Genet. 112: 78-83, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12483303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12483303</a>] [<a href="https://doi.org/10.1007/s00439-002-0844-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12483303">Shirahama et al. (2003)</a> described a patient with the same mutation, caused by a 440G-A transition in exon 4, which was also found in her clinically unaffected mother. Expression analysis demonstrated that the mutant allele was predominantly expressed in the patient, while both alleles were expressed in her mother. Methylation analysis revealed that the wildtype allele was predominantly inactivated in the patient, while the mutated allele was predominantly inactivated in her mother. Thus, differences in expression of the mutated allele caused by skewed X-chromosome inactivation produced the diverse phenotypes within this family. <a href="#26" class="mim-tip-reference" title="Shirahama, S., Miyahara, A., Kitoh, H., Honda, A., Kawase, A., Yamada, K., Mabuchi, A., Kura, H., Yokoyama, Y., Tsutsumi, M., Ikeda, T., Tanaka, N., Nishimura, G., Ohashi, H., Ikegawa, S. <strong>Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.</strong> Hum. Genet. 112: 78-83, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12483303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12483303</a>] [<a href="https://doi.org/10.1007/s00439-002-0844-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12483303">Shirahama et al. (2003)</a> noted that anticipation was a striking clinical feature of CDPX2 in the studies of <a href="#28" class="mim-tip-reference" title="Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E. <strong>XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong> Am. J. Med. Genet. 57: 489-492, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7677157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7677157</a>] [<a href="https://doi.org/10.1002/ajmg.1320570326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7677157">Sutphen et al. (1995)</a> and <a href="#29" class="mim-tip-reference" title="Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H. <strong>Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.</strong> Hum. Genet. 89: 659-665, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355069</a>] [<a href="https://doi.org/10.1007/BF00221958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355069">Traupe et al. (1992)</a> and suggested that skewed methylation may have a role in this phenomenon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12483303+1355069+10942423+7677157" 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">rs104894795 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894795;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=rs104894795" 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=rs104894795" 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=RCV000012248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012248</a>
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<p><a href="#24" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Metzenberg, A. B. <strong>Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.</strong> Am. J. Med. Genet. 116A: 249-254, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503101</a>] [<a href="https://doi.org/10.1002/ajmg.a.10849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12503101">Milunsky et al. (2003)</a> described a hemizygous nonmosaic leu18-to-pro (L18P) mutation in exon 2 of the EBP gene in a 2.5-year-old Caucasian male with developmental delay, hypotonia, seizures, and patchy hypopigmentation of the skin (MEND; <a href="/entry/300960">300960</a>). Although the patient had several typical findings of CDPX2 (<a href="/entry/302960">302960</a>), no skeletal asymmetry or chondrodysplasia punctata was noted on skeletal survey at 6 weeks and 13 months of age. The levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma and in cultured fibroblasts; this prompted molecular analysis of EBP, which revealed the L18P mutation. The patient's mother, who was adopted, also had the L18P mutation. She had normal stature, no asymmetry, no cataracts, and a patch of hyperpigmentation on her chest, best visualized on Woods lamp examination, characteristic of CDPX2. <a href="#12" class="mim-tip-reference" title="Happle, R. <strong>Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndrome. (Letter)</strong> Am. J. Med. Genet. 122A: 279 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966533</a>] [<a href="https://doi.org/10.1002/ajmg.a.20324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966533">Happle (2003)</a> and <a href="#19" class="mim-tip-reference" title="Ikegawa, S. <strong>Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndrome. (Letter)</strong> Am. J. Med. Genet. 130A: 106 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368506</a>] [<a href="https://doi.org/10.1002/ajmg.a.30182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368506">Ikegawa (2004)</a> commented on the report of <a href="#24" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Metzenberg, A. B. <strong>Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.</strong> Am. J. Med. Genet. 116A: 249-254, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503101</a>] [<a href="https://doi.org/10.1002/ajmg.a.10849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12503101">Milunsky et al. (2003)</a>; <a href="#12" class="mim-tip-reference" title="Happle, R. <strong>Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndrome. (Letter)</strong> Am. J. Med. Genet. 122A: 279 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966533</a>] [<a href="https://doi.org/10.1002/ajmg.a.20324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966533">Happle (2003)</a> considered this patient to have an entity distinct from CDPX2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15368506+12503101+12966533" 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">rs587783599 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587783599;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=rs587783599" 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=rs587783599" 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=RCV000145922 OR RCV000190980" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000145922, RCV000190980" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000145922...</a>
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<p>In 2 unrelated boys with MEND syndrome (MEND; <a href="/entry/300960">300960</a>), <a href="#9" class="mim-tip-reference" title="Furtado, L. V, Bayrak-Toydemir, P., Hulinsky, B., Damjanovich, K., Carey, J. C., Rope, A. F. <strong>A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.</strong> Am. J. Med. Genet. 152A: 2838-2844, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20949533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20949533</a>] [<a href="https://doi.org/10.1002/ajmg.a.33674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20949533">Furtado et al. (2010)</a> identified a hemizygous c.141G-T transversion in exon 2 of the EBP gene, resulting in a trp47-to-cys (W47C) substitution at a highly conserved residue in transmembrane domain-1. Functional studies of the variant were not performed, but both patients had increased plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. The mutation was inherited from an unaffected mother in both cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20949533" 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>.0015 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL</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">rs878854358 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878854358;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=rs878854358" 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=rs878854358" 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=RCV000190981" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190981" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190981</a>
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<p>In a 7-year-old boy with an atypical form of X-linked dominant chondrodysplasia punctata-2 (CDPX2; <a href="/entry/302960">302960</a>), <a href="#1" class="mim-tip-reference" title="Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. <strong>Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).</strong> Brit. J. Derm. 166: 1309-1313, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22229330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22229330</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2012.10808.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22229330">Arnold et al. (2012)</a> identified a de novo hemizygous c.33C-A transversion in the EBP gene, resulting in a tyr11-to-ter (Y11X) substitution. The karyotype of the patient was 46,XY, and <a href="#1" class="mim-tip-reference" title="Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. <strong>Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).</strong> Brit. J. Derm. 166: 1309-1313, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22229330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22229330</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2012.10808.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22229330">Arnold et al. (2012)</a> suggested that postzygotic mosaicism had occurred in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22229330" 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">rs797045153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045153;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=rs797045153" 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=rs797045153" 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=RCV000190982" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190982" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190982</a>
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<p>In affected members of a Mexican family with MEND syndrome (MEND; <a href="/entry/300960">300960</a>), originally reported by <a href="#3" class="mim-tip-reference" title="Barboza-Cerda, M. C., Campos-Acevedo, L. D., Rangel, R., Martinez-de-Villareal, L. E., Dector, M. A. <strong>A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.</strong> Am. J. Med. Genet. 161A: 237-243, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23307567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23307567</a>] [<a href="https://doi.org/10.1002/ajmg.a.35743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23307567">Barboza-Cerda et al. (2013)</a>, <a href="#4" class="mim-tip-reference" title="Barboza-Cerda, M. C., Wong, L.-J., Martinez-de-Villareal, L. E., Zhang, V. W., Dector, M. A. <strong>A novel EBP c.224T-A mutation supports the existence of a male-specific disorder independent of CDPX2.</strong> Am. J. Med. Genet. 164A: 1642-1647, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700572</a>] [<a href="https://doi.org/10.1002/ajmg.a.36508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700572">Barboza-Cerda et al. (2014)</a> identified a hemizygous c.224T-A transversion in the EBP gene, resulting in an ile75-to-asn (I75N) substitution at a highly conserved residue in transmembrane domain-2. The mutation, which was found by X-chromosome exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, or Exome Sequencing Project databases. It was present in 2 affected males tested and in the unaffected mother; there was no evidence of mosaicism for the mutation in the affected males. Functional studies of the variant were not performed, but the mutation carriers had increased levels of plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. <a href="#4" class="mim-tip-reference" title="Barboza-Cerda, M. C., Wong, L.-J., Martinez-de-Villareal, L. E., Zhang, V. W., Dector, M. A. <strong>A novel EBP c.224T-A mutation supports the existence of a male-specific disorder independent of CDPX2.</strong> Am. J. Med. Genet. 164A: 1642-1647, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700572</a>] [<a href="https://doi.org/10.1002/ajmg.a.36508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700572">Barboza-Cerda et al. (2014)</a> concluded that this was a hypomorphic mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24700572+23307567" 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>.0017 MEND SYNDROME</strong>
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EBP, TRP47ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs878854359 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878854359;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=rs878854359" 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=rs878854359" 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=RCV000190983" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190983" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190983</a>
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<p>In 4 affected males from a family with MEND syndrome (MEND; <a href="/entry/300960">300960</a>), <a href="#13" class="mim-tip-reference" title="Hartill, V. L., Tysoe, C., Manning, N., Dobbie, A., Santra, S., Walter, J., Caswell, R., Koster, J., Waterham, H., Hobson, E. <strong>An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.</strong> Am. J. Med. Genet. 164A: 907-914, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459067</a>] [<a href="https://doi.org/10.1002/ajmg.a.36368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459067">Hartill et al. (2014)</a> identified a hemizygous c.139T-C transition in the EBP gene, resulting in a trp47-to-arg (W47R) substitution at a highly conserved residue in the first transmembrane domain near the cytoplasmic surface of the endoplasmic reticulum membrane. The mutation was not found in the dbSNP database. Functional studies of the variant were not performed, but patients had increased 8-dehydrocholesterol and 8(9)-cholestenol. <a href="#13" class="mim-tip-reference" title="Hartill, V. L., Tysoe, C., Manning, N., Dobbie, A., Santra, S., Walter, J., Caswell, R., Koster, J., Waterham, H., Hobson, E. <strong>An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.</strong> Am. J. Med. Genet. 164A: 907-914, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459067</a>] [<a href="https://doi.org/10.1002/ajmg.a.36368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459067">Hartill et al. (2014)</a> postulated that the mutant protein is hypomorphic. The main features in this family included intellectual disability and behavioral difficulties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24459067" 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>REFERENCES</strong>
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<a id="Arnold2012" class="mim-anchor"></a>
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Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R.
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<strong>Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).</strong>
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Brit. J. Derm. 166: 1309-1313, 2012.
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[<a href="https://doi.org/10.1111/j.1365-2133.2012.10808.x" target="_blank">Full Text</a>]
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Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M.
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<strong>X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12503102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12503102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12503102" 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.10852" target="_blank">Full Text</a>]
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Barboza-Cerda, M. C., Campos-Acevedo, L. D., Rangel, R., Martinez-de-Villareal, L. E., Dector, M. A.
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<strong>A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.</strong>
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Am. J. Med. Genet. 161A: 237-243, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23307567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23307567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23307567" 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.35743" target="_blank">Full Text</a>]
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Barboza-Cerda, M. C., Wong, L.-J., Martinez-de-Villareal, L. E., Zhang, V. W., Dector, M. A.
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<strong>A novel EBP c.224T-A mutation supports the existence of a male-specific disorder independent of CDPX2.</strong>
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Am. J. Med. Genet. 164A: 1642-1647, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700572" 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.36508" target="_blank">Full Text</a>]
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Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D.
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<strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong>
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Nature Genet. 22: 291-294, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391219" 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/10.1038/10357" target="_blank">Full Text</a>]
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Cho, S. Y., Kim, J. H., Paik, Y. K.
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<strong>Cholesterol biosynthesis from lanosterol: differential inhibition of sterol delta 8-isomerase and other lanosterol-converting enzymes by tamoxifen.</strong>
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Molec. Cells 8: 233-239, 1998.
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Clayton, P. T., Kalter, D. C., Atherton, D. J., Besley, G. T., Broadhead, D. M.
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[<a href="https://doi.org/10.1007/BF03335422" target="_blank">Full Text</a>]
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Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391218" 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/10.1038/10350" target="_blank">Full Text</a>]
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Furtado, L. V, Bayrak-Toydemir, P., Hulinsky, B., Damjanovich, K., Carey, J. C., Rope, A. F.
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<strong>A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20949533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20949533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20949533" 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.33674" target="_blank">Full Text</a>]
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Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I.
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<strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8,delta-7-isomerase.</strong>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20324" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36368" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12483303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12483303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12483303" 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/s00439-002-0844-x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Silve1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Silve, S., Dupuy, P. H., Labit-Lebouteiller, C., Kaghad, M., Chalon, P., Rahier, A., Taton, M., Lupker, J., Shire, D., Loison, G.
|
|
<strong>Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta(8)-delta(7) sterol isomerase activity in yeast.</strong>
|
|
J. Biol. Chem. 271: 22434-22440, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798407" 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/10.1074/jbc.271.37.22434" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Sutphen1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sutphen, R., Amar, M. J., Kousseff, B. G., Toomey, K. E.
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|
<strong>XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
|
|
Am. J. Med. Genet. 57: 489-492, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7677157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7677157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7677157" 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.1320570326" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Traupe1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Traupe, H., Muller, D., Atherton, D., Kalter, D. C., Cremers, F. P. M., van Oost, B. A., Ropers, H.-H.
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<strong>Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.</strong>
|
|
Hum. Genet. 89: 659-665, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355069" 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/BF00221958" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/20/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/16/2015<br>Victor A. McKusick - updated : 12/1/2004<br>Ada Hamosh - updated : 3/4/2003<br>Victor A. McKusick - updated : 2/4/2003<br>Victor A. McKusick - updated : 12/30/2002<br>Anne M. Stumpf - updated : 4/5/2002<br>Sonja A. Rasmussen - updated : 12/11/2000<br>George E. Tiller - updated : 10/25/2000<br>Sonja A. Rasmussen - updated : 4/24/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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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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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/24/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/06/2023
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 11/20/2019<br>alopez : 09/20/2018<br>joanna : 07/01/2016<br>carol : 9/22/2015<br>carol : 9/21/2015<br>ckniffin : 9/16/2015<br>terry : 4/4/2013<br>carol : 3/25/2013<br>tkritzer : 12/2/2004<br>terry : 12/1/2004<br>carol : 8/8/2003<br>cwells : 3/4/2003<br>carol : 2/28/2003<br>tkritzer : 2/19/2003<br>terry : 2/4/2003<br>carol : 1/30/2003<br>tkritzer : 1/3/2003<br>terry : 12/30/2002<br>terry : 6/27/2002<br>alopez : 4/5/2002<br>mcapotos : 12/11/2000<br>mcapotos : 11/1/2000<br>carol : 10/30/2000<br>mcapotos : 10/25/2000<br>terry : 4/24/2000<br>terry : 4/21/2000<br>terry : 4/21/2000<br>alopez : 2/21/2000<br>alopez : 11/16/1999<br>alopez : 8/24/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>*</strong> 300205
|
|
</span>
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
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|
|
EMOPAMIL-BINDING PROTEIN; EBP
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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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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
3-BETA-HYDROXYSTEROID-DELTA-8,DELTA-7 ISOMERASE
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: EBP</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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<p>
|
|
<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 398719004, 398958000;
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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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<p>
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xp11.23
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:48,521,808-48,528,716 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
Xp11.23
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Chondrodysplasia punctata, X-linked dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
302960
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
MEND syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300960
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<span class="mim-text-font">
|
|
<p>The EBP gene encodes an integral membrane protein located mainly in the endoplasmic reticulum that functions as a key enzyme in the final steps of the sterol biosynthesis pathway (summary by Hartill et al., 2014). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>EBP was originally cloned as a delta-receptor binding target for the phenylalkylamine calcium-ion antagonist emopamil, an antiischemic drug in animal models of stroke (Hanner et al., 1995). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>EBP was shown to bind a number of structurally diverse molecules, including the immunosuppressant SR31747A (Labit-Le Bouteiller et al., 1998) and the chemotherapeutic agent tamoxifen (Cho et al., 1998). EBP was shown to function as a delta(8)-delta(7) sterol isomerase by complementation of a yeast erg2 mutant (Silve et al., 1996). </p><p>High-throughput chemical screening approaches have identified small molecules that stimulate the formation of oligodendrocytes from oligodendrocyte progenitor cells and functionally enhance remyelination in vivo. Hubler et al. (2018) showed that a wide range of these promyelinating small molecules function not through their canonical targets but by directly inhibiting CYP51 (601637), TM7SF2 (603414), or EBP, a narrow range of enzymes within the cholesterol biosynthesis pathway. Subsequent accumulation of the 8,9-unsaturated sterol substrates of these enzymes is a key mechanistic node that promotes oligodendrocyte formation, as 8,9-unsaturated sterols are effective when supplied to oligodendrocyte progenitor cells in purified form whereas analogous sterols that lack this structural feature have no effect. Hubler et al. (2018) concluded that their results defined a unifying sterol-based mechanism of action for most known small molecule enhancers of oligodendrocyte formation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hanner et al. (1995) and Schindelhauer et al. (1996) mapped the EBP gene to Xp11.23-p11.22 by radiation hybrid and FISH analysis. Obviously an earlier assignment of CDPX2 to Xq28 was an error. Traupe et al. (1992) had claimed exclusion of Xp11 as the site of the mutation in X-linked dominant chondrodysplasia punctata (CDPX2; 302960); molecular studies in this family by Derry et al. (1999) demonstrated that Xp11 is, in fact, not excluded. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Derry et al. (1999) suggested that the loss of males in utero may be related to the presence of toxic sterol intermediates. The fact that mutations in the gene encoding 7-dehydrocholesterol reductase (DHCR7; 602858), the final enzyme of cholesterol biosynthesis, cause Smith-Lemli-Opitz syndrome (SLOS; 270400), suggests a direct involvement for abnormal cholesterol biosynthesis in some features of the Td/CDPX2 phenotype. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>X-linked Dominant Chondrodysplasia Punctata 2</em></strong></p><p>
|
|
Derry et al. (1999) identified heterozygous mutations in the EBP gene (see, e.g., 300205.0001-300205.0002) in 7 of 8 female patients with X-linked dominant chondrodysplasia punctata-2 CDPX2 (302960). Of the 7, 5 mutations were predicted to be complete null alleles (4 nonsense single-base substitutions and 1 intragenic deletion producing a frameshift and truncated protein). An in-frame 3-bp deletion and 2 identical nonsense mutations (R63X) involved the same potential methylated CpG dinucleotide, which may represent a 'hotspot' for mutations. The single missense mutation R110Q, like Td, altered a conserved amino acid; it was positioned only 3 amino acids distal to the Td substitution in the same cytoplasmic domain of the isomerase protein. One of the families with CDPX2 investigated by Derry et al. (1999) had been reported by Traupe et al. (1992) and by Clayton et al. (1989); another family had been reported by Holmes et al. (1987). </p><p>Simultaneously and independently, Braverman et al. (1999) used SSCP analysis and sequencing of genomic DNA to find heterozygous EBP mutations in all 7 cases of CDPX2 studied. They confirmed the functional significance of 2 missense alleles by expressing them in a sterol-delta(8)-isomerase-deficient yeast strain. </p><p>Because of the clinical similarities between X-linked dominant chondrodysplasia punctata-2 and CHILD syndrome (308050), Grange et al. (2000) analyzed plasma sterols in a patient with typical CHILD syndrome. The levels of 8-dehydrocholesterol and 8(9)-cholestenol were increased in this patient to the same degree as in CDPX2 patients. The authors subsequently identified a nonsense mutation in exon 3 of the patient's 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase gene. The authors suggested that at least some cases of CHILD syndrome are caused by 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase deficiency and are allelic to CDPX2, although the almost exclusively unilateral distribution of abnormalities in CHILD syndrome versus the bilateral disease of CDPX2 remained to be explained. Konig et al. (2002) stated that the association of CHILD syndrome with mutation in the EBP gene by Grange et al. (2000) was erroneous and was in fact a case of CDPX2 with predominantly unilateral involvement. Konig et al. (2002) pointed out that an X-linked dominant disorder usually showing an asymmetric involvement such as CDPX2 may give rise by way of exception to extreme lateralization, whereas the CHILD syndrome usually shows extreme lateralization but may exceptionally manifest itself in almost symmetrically arranged skin lesions. </p><p>Has et al. (2000) analyzed the EBP gene in 7 independent families. They found 3 nonsense mutations and 2 frameshift mutations (1 deletion and 1 insertion). In 2 families, known mutations were identified. The authors found no mutations in a grandmother exhibiting minor disease symptoms (such as sectorial cataract) or in healthy parents with 2 affected girls. They hypothesized that these unrelated families may exemplify somatic and gonadal mosaicism. </p><p>Herman et al. (2002) searched for mutations in 26 females with suspected X-linked dominant chondrodysplasia punctata. Mutations in the EBP gene were identified in 22 of the 26 females studied, including 20 of the 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations were novel. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female. </p><p><strong><em>MEND Syndrome</em></strong></p><p>
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Milunsky et al. (2003) described a hemizygous nonmosaic missense mutation in the EBP gene (L18P; 300205.0013) in a 2.5-year-old Caucasian male with developmental delay, hypotonia, seizures, and patchy hypopigmentation of the skin, consistent with MEND syndrome (MEND; 300960). </p><p>In 2 unrelated boys with MEND syndrome, Furtado et al. (2010) identified a hemizygous missense mutation in the EBP gene (W47C; 300205.0014). Functional studies of the variant were not performed, but both patients had increased levels of plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. The mutation was inherited from an unaffected mother in both cases. </p>
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</span>
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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>'Tattered' (Td) is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females. The phenotype of Td is similar to that seen in heterozygous human females with X-linked dominant chondrodysplasia punctata (CDPX2; 302960), as well as in another X-linked, semidominant mouse mutation, 'bare patches' (Bpa). The Bpa gene (NSDHL; 300275) was identified by Liu et al. (1999), who showed that it encodes a protein with homology to 3-beta-hydroxysteroid dehydrogenases that functions in one of the later steps of cholesterol biosynthesis. CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects. Derry et al. (1999) identified the defect in Td mice as a single amino acid substitution in the delta(8)-delta(7) sterol isomerase known as emopamil-binding protein (Ebp) and also identified alterations in human EBP in 7 unrelated CDPX2 patients. </p><p>Of the genes mapped to a 0.9-cM interval in the proximal region of the mouse X chromosome, Ebp emerged as a candidate (Derry et al. (1999)) based on the hypothesis that mutations in the phenotypically similar mutants Td and Bpa may involve proteins that act in the same metabolic pathway, and the observation that Ebp functions as a sterol isomerase (Silve et al., 1996). Derry et al. (1999) found that all Td mice showed a single nucleotide substitution at position 454, a G-to-A transition resulting in an amino acid substitution of arginine for glycine at amino acid position 107. Kelley et al. (1999) demonstrated increased amounts of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues of 5 patients with CDPX2 or severe idiopathic CDP, consistent with a defect in delta(8)-delta(7) isomerase function. Quantitatively and qualitatively very similar sterol profiles were found in female mice with the Td mutation. </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>17 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">
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<strong>.0001 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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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EBP, TRP29TER
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<br />
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SNP: rs104894798,
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ClinVar: RCV000012238
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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>In a sporadic case of X-linked dominant chondrodysplasia punctata-2 (CDPX2; 302960) manifested by asymmetric rhizomelia, epiphyseal stippling, and hemivertebrae, as well as cataracts, Derry et al. (1999) found a 198G-A nucleotide change in the EBP gene predicted to cause a trp29-to-ter (W29X) change in the protein. The patient had collodion skin at birth; alopecia and coarse hair were later features. The patient also had Dandy-Walker malformation with ventriculomegaly. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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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EBP, ARG63TER
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<br />
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SNP: rs104894799,
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ClinVar: RCV000012239, RCV001574479
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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>In a familial case of chondrodysplasia punctata (CDPX2; 302960) and in a sporadic case of CDPX, Derry et al. (1999) found a 298C-T nucleotide change in the EBP gene predicted to cause an arg63-to-ter (R63X) alteration in the protein. The familial case had asymmetric short stature, scoliosis, epiphyseal stippling, bilateral cataract, erythroderma, and patchy alopecia. In the sporadic case, asymmetric rhizomelia, postaxial polydactyly, scoliosis, bilateral clubfeet, erythroderma, and patchy alopecia were present, as well as hearing loss. Cataract was present in the right eye. </p><p>In a familial case of CDPX2 in which the diagnosis was made when the patient, of Hispanic extraction, was 13 years of age, Braverman et al. (1999) found the same R63X mutation; they cited the nucleotide change as a 187C-T transition in exon 2 of the EBP gene. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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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EBP, GLU80LYS
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<br />
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SNP: rs104894800,
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ClinVar: RCV000012240, RCV002276542, RCV002512979
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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>In a female of European extraction with chondrodysplasia punctata (CDPX2; 302960) in whom the diagnosis was made at age 7 years, Braverman et al. (1999) identified a 238G-A transition in exon 2 of the EBP gene, predicted to cause a glu80-to-lys (E80K) amino acid substitution in the protein. </p><p>Aughton et al. (2003) described this mutation in mosaic state in a boy with clinical features of CDPX2 (including those presumed to arise in females secondary to the functional mosaicism of random X inactivation). Other causes of CDPX2 in males, such as 47,XXY karyotype and hypomorphic (leaky) mutation, were excluded. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 REMOVED FROM DATABASE</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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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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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EBP, IVS3DS, G-T, +1
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<br />
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SNP: rs1569479885,
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ClinVar: RCV000012241
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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>In a case of familial chondrodysplasia punctata (CDPX2; 302960) with spontaneous abortion at the age of 30 weeks, Braverman et al. (1999) found a G-to-T transversion at the first nucleotide of intron 3 of the EBP gene. </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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</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>.0006 REMOVED FROM DATABASE</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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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
|
|
</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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EBP, 1-BP DEL, 390A
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<br />
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SNP: rs1569479901,
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ClinVar: RCV000012242
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an isolated case of chondrodysplasia punctata (CDPX2; 302960), Has et al. (2000) found a 1-bp deletion of A at position 390 in exon 4 of the EBP gene, generating a frameshift and a premature termination signal at codon 137. </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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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
|
|
</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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|
|
EBP, 1-BP INS, 586A
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|
<br />
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|
|
SNP: rs1569480016,
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|
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ClinVar: RCV000012243
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an isolated case of chondrodysplasia punctata (CDPX2; 302960), Has et al. (2000) found a 1-bp insertion of A following base 586 in exon 5 of the EBP gene, generating a frameshift and a premature termination signal at codon 196. </p>
|
|
</span>
|
|
</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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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
|
|
</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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|
EBP, TRP129TER
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<br />
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SNP: rs104894792,
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ClinVar: RCV000012244
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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>Ikegawa et al. (2000) reported an isolated Japanese case with typical chondrodysplasia punctata (CDPX2; 302960) with a 497G-A nucleotide change in exon 4 of the EBP gene, predicted to cause a trp129-to-ter (W129X) alteration in the protein. </p>
|
|
</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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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</strong>
|
|
</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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EBP, GLN175TER
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<br />
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SNP: rs104894793,
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ClinVar: RCV000012245
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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>Ikegawa et al. (2000) reported an isolated Japanese case with typical chondrodysplasia punctata (CDPX2; 302960) with a 634C-T nucleotide change in exon 5 of the EBP gene, predicted to cause a gln175-to-ter (Q175X) alteration in the protein. </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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</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>.0011 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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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EBP, TRP196TER
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<br />
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SNP: rs104894794,
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ClinVar: RCV000012246
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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>Ikegawa et al. (2000) reported an isolated Japanese case with typical chondrodysplasia punctata (CDPX2; 302960) with a 698G-A nucleotide change in exon 5 of the EBP gene, predicted to cause a trp196-to-ter (W196X) alteration in the protein. </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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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT</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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EBP, ARG147HIS
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<br />
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SNP: rs28935174,
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gnomAD: rs28935174,
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ClinVar: RCV000012247, RCV003329229, RCV004795393
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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>Has et al. (2000) described a family in which 2 children with chondrodysplasia punctata (CDPX2; 302960) had an arg147-to-his (R147H) mutation of the EBP gene but showed differing severity of the disease. Shirahama et al. (2003) described a patient with the same mutation, caused by a 440G-A transition in exon 4, which was also found in her clinically unaffected mother. Expression analysis demonstrated that the mutant allele was predominantly expressed in the patient, while both alleles were expressed in her mother. Methylation analysis revealed that the wildtype allele was predominantly inactivated in the patient, while the mutated allele was predominantly inactivated in her mother. Thus, differences in expression of the mutated allele caused by skewed X-chromosome inactivation produced the diverse phenotypes within this family. Shirahama et al. (2003) noted that anticipation was a striking clinical feature of CDPX2 in the studies of Sutphen et al. (1995) and Traupe et al. (1992) and suggested that skewed methylation may have a role in this phenomenon. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0013 MEND 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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EBP, LEU18PRO
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<br />
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SNP: rs104894795,
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ClinVar: RCV000012248
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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>Milunsky et al. (2003) described a hemizygous nonmosaic leu18-to-pro (L18P) mutation in exon 2 of the EBP gene in a 2.5-year-old Caucasian male with developmental delay, hypotonia, seizures, and patchy hypopigmentation of the skin (MEND; 300960). Although the patient had several typical findings of CDPX2 (302960), no skeletal asymmetry or chondrodysplasia punctata was noted on skeletal survey at 6 weeks and 13 months of age. The levels of 8(9)-cholestenol and 8-dehydrocholesterol were mildly increased in plasma and in cultured fibroblasts; this prompted molecular analysis of EBP, which revealed the L18P mutation. The patient's mother, who was adopted, also had the L18P mutation. She had normal stature, no asymmetry, no cataracts, and a patch of hyperpigmentation on her chest, best visualized on Woods lamp examination, characteristic of CDPX2. Happle (2003) and Ikegawa (2004) commented on the report of Milunsky et al. (2003); Happle (2003) considered this patient to have an entity distinct from CDPX2. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0014 MEND 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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EBP, TRP47CYS
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<br />
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SNP: rs587783599,
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ClinVar: RCV000145922, RCV000190980
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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>In 2 unrelated boys with MEND syndrome (MEND; 300960), Furtado et al. (2010) identified a hemizygous c.141G-T transversion in exon 2 of the EBP gene, resulting in a trp47-to-cys (W47C) substitution at a highly conserved residue in transmembrane domain-1. Functional studies of the variant were not performed, but both patients had increased plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. The mutation was inherited from an unaffected mother in both cases. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0015 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL</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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EBP, TYR11TER
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<br />
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SNP: rs878854358,
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ClinVar: RCV000190981
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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>In a 7-year-old boy with an atypical form of X-linked dominant chondrodysplasia punctata-2 (CDPX2; 302960), Arnold et al. (2012) identified a de novo hemizygous c.33C-A transversion in the EBP gene, resulting in a tyr11-to-ter (Y11X) substitution. The karyotype of the patient was 46,XY, and Arnold et al. (2012) suggested that postzygotic mosaicism had occurred in this patient. </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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0016 MEND 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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EBP, ILE75ASN
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<br />
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SNP: rs797045153,
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ClinVar: RCV000190982
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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>In affected members of a Mexican family with MEND syndrome (MEND; 300960), originally reported by Barboza-Cerda et al. (2013), Barboza-Cerda et al. (2014) identified a hemizygous c.224T-A transversion in the EBP gene, resulting in an ile75-to-asn (I75N) substitution at a highly conserved residue in transmembrane domain-2. The mutation, which was found by X-chromosome exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP, 1000 Genomes Project, or Exome Sequencing Project databases. It was present in 2 affected males tested and in the unaffected mother; there was no evidence of mosaicism for the mutation in the affected males. Functional studies of the variant were not performed, but the mutation carriers had increased levels of plasma 8(9)-cholestenol and 8-dehydrocholesterol, consistent with an enzymatic defect. Barboza-Cerda et al. (2014) concluded that this was a hypomorphic 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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</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>.0017 MEND 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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EBP, TRP47ARG
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<br />
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SNP: rs878854359,
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ClinVar: RCV000190983
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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>In 4 affected males from a family with MEND syndrome (MEND; 300960), Hartill et al. (2014) identified a hemizygous c.139T-C transition in the EBP gene, resulting in a trp47-to-arg (W47R) substitution at a highly conserved residue in the first transmembrane domain near the cytoplasmic surface of the endoplasmic reticulum membrane. The mutation was not found in the dbSNP database. Functional studies of the variant were not performed, but patients had increased 8-dehydrocholesterol and 8(9)-cholestenol. Hartill et al. (2014) postulated that the mutant protein is hypomorphic. The main features in this family included intellectual disability and behavioral difficulties. </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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</div>
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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|
</span>
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</h4>
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R.
|
|
<strong>Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects).</strong>
|
|
Brit. J. Derm. 166: 1309-1313, 2012.
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[PubMed: 22229330]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2012.10808.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Aughton, D. J., Kelley, R. I., Metzenberg, A., Pureza, V., Pauli, R. M.
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|
<strong>X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.</strong>
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|
Am. J. Med. Genet. 116A: 255-260, 2003.
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[PubMed: 12503102]
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[Full Text: https://doi.org/10.1002/ajmg.a.10852]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Barboza-Cerda, M. C., Campos-Acevedo, L. D., Rangel, R., Martinez-de-Villareal, L. E., Dector, M. A.
|
|
<strong>A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.</strong>
|
|
Am. J. Med. Genet. 161A: 237-243, 2013.
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[PubMed: 23307567]
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[Full Text: https://doi.org/10.1002/ajmg.a.35743]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Barboza-Cerda, M. C., Wong, L.-J., Martinez-de-Villareal, L. E., Zhang, V. W., Dector, M. A.
|
|
<strong>A novel EBP c.224T-A mutation supports the existence of a male-specific disorder independent of CDPX2.</strong>
|
|
Am. J. Med. Genet. 164A: 1642-1647, 2014.
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[PubMed: 24700572]
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[Full Text: https://doi.org/10.1002/ajmg.a.36508]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I., Valle, D.
|
|
<strong>Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.</strong>
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Nature Genet. 22: 291-294, 1999.
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[PubMed: 10391219]
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[Full Text: https://doi.org/10.1038/10357]
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<p class="mim-text-font">
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Cho, S. Y., Kim, J. H., Paik, Y. K.
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<strong>Cholesterol biosynthesis from lanosterol: differential inhibition of sterol delta 8-isomerase and other lanosterol-converting enzymes by tamoxifen.</strong>
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Molec. Cells 8: 233-239, 1998.
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[PubMed: 9638657]
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<li>
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<p class="mim-text-font">
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Clayton, P. T., Kalter, D. C., Atherton, D. J., Besley, G. T., Broadhead, D. M.
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<strong>Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome.</strong>
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J. Inherit. Metab. Dis. 12: 358-360, 1989.
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[PubMed: 2512444]
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[Full Text: https://doi.org/10.1007/BF03335422]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Derry, J. M. J., Gormally, E., Means, G. D., Zhao, W., Meindl, A., Kelley, R. I., Boyd, Y., Herman, G. E.
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<strong>Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.</strong>
|
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Nature Genet. 22: 286-290, 1999.
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[PubMed: 10391218]
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[Full Text: https://doi.org/10.1038/10350]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Furtado, L. V, Bayrak-Toydemir, P., Hulinsky, B., Damjanovich, K., Carey, J. C., Rope, A. F.
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<strong>A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.</strong>
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Am. J. Med. Genet. 152A: 2838-2844, 2010.
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[PubMed: 20949533]
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[Full Text: https://doi.org/10.1002/ajmg.a.33674]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Grange, D. K., Kratz, L. E., Braverman, N. E., Kelley, R. I.
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<strong>CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8,delta-7-isomerase.</strong>
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Am. J. Med. Genet. 90: 328-335, 2000.
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[PubMed: 10710233]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hanner, M., Moebius, F. F., Weber, F., Grabner, M., Striessnig, J., Glossmann, H.
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<strong>Phenylalkylamine Ca(2+) antagonist binding protein: molecular cloning, tissue distribution, and heterologous expression.</strong>
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J. Biol. Chem. 270: 7551-7557, 1995.
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[PubMed: 7706302]
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[Full Text: https://doi.org/10.1074/jbc.270.13.7551]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Happle, R.
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<strong>Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndrome. (Letter)</strong>
|
|
Am. J. Med. Genet. 122A: 279 only, 2003.
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[PubMed: 12966533]
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[Full Text: https://doi.org/10.1002/ajmg.a.20324]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hartill, V. L., Tysoe, C., Manning, N., Dobbie, A., Santra, S., Walter, J., Caswell, R., Koster, J., Waterham, H., Hobson, E.
|
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<strong>An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.</strong>
|
|
Am. J. Med. Genet. 164A: 907-914, 2014.
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[PubMed: 24459067]
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[Full Text: https://doi.org/10.1002/ajmg.a.36368]
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|
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</p>
|
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</li>
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|
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<li>
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<p class="mim-text-font">
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|
Has, C., Bruckner-Tuderman, L., Muller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H.
|
|
<strong>The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.</strong>
|
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Hum. Molec. Genet. 9: 1951-1955, 2000.
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[PubMed: 10942423]
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|
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[Full Text: https://doi.org/10.1093/hmg/9.13.1951]
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</p>
|
|
</li>
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<li>
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|
<p class="mim-text-font">
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|
Herman, G. E., Kelley, R. I., Pureza, V., Smith, D., Kopacz, K., Pitt, J., Sutphen, R., Sheffield, L. J., Metzenberg, A. B.
|
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<strong>Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
|
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Genet. Med. 4: 434-438, 2002.
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[PubMed: 12509714]
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[Full Text: https://doi.org/10.1097/00125817-200211000-00006]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Holmes, R. D., Wilson, G. N., Hajra, A. K.
|
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<strong>Peroxisomal enzyme deficiency in the Conradi-Hunerman (sic) form of chondrodysplasia punctata.</strong>
|
|
New Eng. J. Med. (Letter) 316: 1608 only, 1987.
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|
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|
|
|
[PubMed: 3587298]
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|
|
[Full Text: https://doi.org/10.1056/NEJM198706183162517]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hubler, Z., Allimuthu, D., Bederman, I., Elitt, M. S., Madhavan, M., Allan, K. C., Shick, H. E., Garrison, E., Karl, M. T., Factor, D. C., Nevin, Z. S., Sax, J. L.
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|
<strong>{and 12 others}: Accumulation of 8,9-unsaturated sterols drives oligodendrocyte formation and remyelination.</strong>
|
|
Nature 560: 372-376, 2018.
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|
[PubMed: 30046109]
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|
[Full Text: https://doi.org/10.1038/s41586-018-0360-3]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ikegawa, S., Ohashi, H., Ogata, T., Honda, A., Tsukahara, M., Kubo, T., Kimizuka, M., Shimode, M., Hasegawa, T., Nishimura, G., Nakamura, Y.
|
|
<strong>Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.</strong>
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<strong>Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.</strong>
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<strong>XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome).</strong>
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