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Entry
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- *602119 - CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2
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- OMIM
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<p>
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<span class="h4">*602119</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602119">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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 id="mimExternalLinksFold" class="collapse in">
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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=ENSG00000173575;t=ENST00000394196" 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=1106" 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=602119" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000173575;t=ENST00000394196" 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_001042572,NM_001271" 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_001271" 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=602119" 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=03669&isoform_id=03669_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/CHD2" 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/2645431,13938416,21594300,30582939,73810006,73810008,110611184,118421089,119370320,119622565,119622566,119622567,119622568,119622569,119622570,158259161,221041086,239740390" 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/O14647" 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=1106" 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=ENSG00000173575;t=ENST00000394196" 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=CHD2" 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=CHD2" 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+1106" 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/CHD2" 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:1106" 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/1106" 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=chr15&hgg_gene=ENST00000394196.9&hgg_start=92900324&hgg_end=93027996&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 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:1917" 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:1917" 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/chd2" 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=602119[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=602119[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/CHD2/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/ENSG00000173575" 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=CHD2" 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=CHD2" 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=CHD2" 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=CHD2&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/PA26453" 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:1917" 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://flybase.org/reports/FBgn0250786.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2448567" 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/CHD2#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:2448567" 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/1106/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=1106" 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://wormbase.org/db/gene/gene?name=WBGene00010369;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050419-256" 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://reactome.org/content/query?q=CHD2&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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</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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602119
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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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CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CHD2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CHD2</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/15/532?start=-3&limit=10&highlight=532">15q26.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:92900324-93027996&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'})">15:92,900,324-93,027,996</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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</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="1">
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<span class="mim-font">
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<a href="/geneMap/15/532?start=-3&limit=10&highlight=532">
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15q26.1
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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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Developmental and epileptic encephalopathy 94
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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/615369"> 615369 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/602119" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/602119" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>The CHD2 gene encodes a member of the chromodomain helicase DNA-binding (CHD) family of proteins, which are characterized by a chromatin-remodeling domain, termed the chromodomain, and an SNF2-related helicase/ATPase domain. These domains suggest that these proteins function as chromatin remodelers (summary by <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" 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>See CHD1 (<a href="/entry/602118">602118</a>) for a description of this gene family.</p>
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<p><a href="#7" class="mim-tip-reference" title="Woodage, T., Basrai, M. A., Baxevanis, A. D., Hieter, P., Collins, F. S. <strong>Characterization of the CHD family of proteins.</strong> Proc. Nat. Acad. Sci. 94: 11472-11477, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326634</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9326634[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/10.1073/pnas.94.21.11472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326634">Woodage et al. (1997)</a> characterized the human CHD2 gene. The predicted 1,739-amino acid polypeptide shares 58.6% identity and 69.5% similarity overall with the mouse Chd1 gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Kulkarni, S., Nagarajan, P., Wall, J., Donovan, D. J., Donell, R. L., Ligon, A. H., Venkatachalam, S., Quade, B. J. <strong>Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.</strong> Am. J. Med. Genet. 146A: 1117-1127, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18386809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18386809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18386809[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/10.1002/ajmg.a.32178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18386809">Kulkarni et al. (2008)</a> showed that murine Chd2 was expressed in the heart, forebrain, extremities, facial and dorsal regions during specific times of embryonic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18386809" 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>Using immunofluorescence analysis, <a href="#2" class="mim-tip-reference" title="Kim, Y., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., Hunt, R. F. <strong>Chd2 is necessary for neural circuit development and long-term memory.</strong> Neuron 100: 1180-1193, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30344048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30344048</a>] [<a href="https://doi.org/10.1016/j.neuron.2018.09.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30344048">Kim et al. (2018)</a> found that Chd2 was widely expressed throughout young adult mouse brain, with strong expression in olfactory bulb, neocortex, hippocampus, and cerebellum. Chd2 expression was limited to mature neurons, interneurons, and oligodendrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30344048" 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="#7" class="mim-tip-reference" title="Woodage, T., Basrai, M. A., Baxevanis, A. D., Hieter, P., Collins, F. S. <strong>Characterization of the CHD family of proteins.</strong> Proc. Nat. Acad. Sci. 94: 11472-11477, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326634</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9326634[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/10.1073/pnas.94.21.11472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326634">Woodage et al. (1997)</a> mapped the CHD2 gene to chromosome 15q26 by PCR screening of the Genebridge 4 radiation hybrid mapping panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Kulkarni, S., Nagarajan, P., Wall, J., Donovan, D. J., Donell, R. L., Ligon, A. H., Venkatachalam, S., Quade, B. J. <strong>Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.</strong> Am. J. Med. Genet. 146A: 1117-1127, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18386809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18386809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18386809[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/10.1002/ajmg.a.32178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18386809">Kulkarni et al. (2008)</a> reported a 17-year-old girl with a balanced de novo translocation, t(X;15)(p22.2;q26.1) that disrupted the CHD2 gene. No known or predicted genes were disrupted by the Xp22.2 breakpoint. Clinical features included scoliosis, hirsutism, learning problems, and developmental delay. She also had a high-arched palate, 2-3 syndactyly of the toes, masculinized face, low voice, and mildly elevated serum testosterone. <a href="#3" class="mim-tip-reference" title="Kulkarni, S., Nagarajan, P., Wall, J., Donovan, D. J., Donell, R. L., Ligon, A. H., Venkatachalam, S., Quade, B. J. <strong>Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.</strong> Am. J. Med. Genet. 146A: 1117-1127, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18386809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18386809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18386809[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/10.1002/ajmg.a.32178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18386809">Kulkarni et al. (2008)</a> suggested that haploinsufficiency of CHD2 could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome (<a href="/entry/214800">214800</a>), which is caused by mutations in the CHD7 gene (<a href="/entry/608892">608892</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18386809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a German girl (MS134) with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#5" class="mim-tip-reference" title="Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., and 27 others. <strong>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.</strong> Lancet 380: 1674-1682, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23020937</a>] [<a href="https://doi.org/10.1016/S0140-6736(12)61480-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23020937">Rauch et al. (2012)</a> identified a de novo heterozygous truncating mutation in the CHD2 gene (<a href="#0001">602119.0001</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in either parent. The patient had delayed psychomotor development with an IQ of 50-69 and onset of absence seizures at age 5 years. She was ascertained from a large cohort of 51 patients with intellectual disability who underwent exome sequencing. <a href="#5" class="mim-tip-reference" title="Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., and 27 others. <strong>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.</strong> Lancet 380: 1674-1682, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23020937</a>] [<a href="https://doi.org/10.1016/S0140-6736(12)61480-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23020937">Rauch et al. (2012)</a> postulated haploinsufficiency as the disease mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23020937" 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 6 unrelated patients with DEE94, <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> identified 6 different de novo heterozygous mutations in the CHD2 gene (see, e.g., <a href="#0002">602119.0002</a>-<a href="#0006">602119.0006</a>). Four of the mutations were truncating, and 2 were missense substitutions at highly conserved residues. The mutations were found by targeted sequencing of known or candidate genes in 500 individuals with epileptic encephalopathies, and thus accounted for 1.2% of cases. The median age of seizure onset was 18 months (range, 1-3 years), and all patients had myoclonic seizures in addition to variable seizure types, including absence, atonic, tonic, tonic-clonic, febrile, and status epilepticus. Four patients had developmental delay before the onset of seizures, 5 showed developmental regression after the onset of seizures, 3 had photosensitivity, and all had moderate to severe intellectual disability. EEG studies showed multiple abnormalities. At the time of the report, the patients ranged in age from 2.5 to 29 years. There were no apparent genotype/phenotype correlations. <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> postulated haploinsufficiency as the disease mechanism. They noted that mutations in the related CHD7 gene (<a href="/entry/608892">608892</a>) cause developmental abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with DEE94, <a href="#6" class="mim-tip-reference" title="Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others. <strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong> Am. J. Hum. Genet. 93: 967-975, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24207121">Suls et al. (2013)</a> identified 3 different de novo heterozygous mutations in the CHD2 gene (<a href="#0007">602119.0007</a>-<a href="#0009">602119.0009</a>). The mutations in the first 2 patients were found by whole-exome sequencing of 9 probands with a similar disorder. The third patient was identified by sequencing of the CHD2 gene in 150 probands with epileptic encephalopathy. The patients had onset of seizures associated with fever between the ages of 14 months and 3.5 years. All subsequently developed multiple seizure types, mostly therapy-resistant, that were associated with EEG abnormalities. Two had normal development before the onset of seizures, whereas 1 patient had mildly delayed development before the onset of seizures. All had mild but persistent intellectual and neurologic impairment. <a href="#6" class="mim-tip-reference" title="Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others. <strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong> Am. J. Hum. Genet. 93: 967-975, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24207121">Suls et al. (2013)</a> postulated that haploinsufficiency for CHD2 was responsible for the phenotype, and suggested that helicase dysfunction in humans may result in neuronal hyperexcitability in the absence of dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24207121" 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 5-year-old proband with DEE94 and her mildly affected mother, <a href="#4" class="mim-tip-reference" title="Petersen, A. K., Streff, H., Tokita, M., Bostwick, B. L. <strong>The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.</strong> Am. J. Med. Genet. 176A: 1667-1669, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29740950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29740950</a>] [<a href="https://doi.org/10.1002/ajmg.a.38835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29740950">Petersen et al. (2018)</a> identified a heterozygous nonsense mutation in the CHD2 gene (E210X; <a href="#0010">602119.0010</a>). The authors noted that this was the first known case of an inherited autosomal dominant pathogenic CHD2 variant in a clinically affected mother and daughter, and emphasized the importance of parental testing before providing recurrence risk estimates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29740950" 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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Chd2 +/- mice showed pronounced lordosis, kyphosis, reduced body fat, postnatal runting, and growth retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18386809" 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="Kim, Y., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., Hunt, R. F. <strong>Chd2 is necessary for neural circuit development and long-term memory.</strong> Neuron 100: 1180-1193, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30344048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30344048</a>] [<a href="https://doi.org/10.1016/j.neuron.2018.09.049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30344048">Kim et al. (2018)</a> found that Chd2 +/- mice were viable and fertile, but that they had reduced body weight compared with wildtype. Chd2 +/- mice expressed half of the amount of Chd2 protein in brain compared with wildtype and exhibited mild lordokyphosis, but no substantial disruption in cortical cytoarchitecture. Chd2 +/- mice had reduced numbers of GABAergic interneurons, and further analysis demonstrated a role for Chd2 in cell proliferation, terminal differentiation, and maturation of cortical principal neurons and GABAergic interneurons. Chd2 haploinsufficiency disrupted cell proliferation and neurogenesis in developing forebrain and led to broad dysregulation of genes involved in disease-related pathways, neurogenesis, and synapse organization. Chd2 +/- mice had disrupted excitatory and inhibitory synaptic functions in hippocampus and exhibited changes in cortical rhythmogenesis. In addition, Chd2 +/- mice displayed severe deficits in long-term spatial and recognition memory. However, increasing the number of inhibitory interneurons by transplantation in Chd2 +/- mice rescued the deficits in long-term spatial memory, but recognition memory remained impaired. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30344048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others. <strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong> Am. J. Hum. Genet. 93: 967-975, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24207121">Suls et al. (2013)</a> found that morpholino knockdown of Chd2 in zebrafish resulted in multiple developmental abnormalities, including pericardial edema, microcephaly, body curvature, absent swim bladder, and stunted growth. Mutant zebrafish larvae also showed abnormal movement patterns, such as twitching and trembling, associated with epileptiform discharges. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24207121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a German girl (MS134) with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#5" class="mim-tip-reference" title="Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., and 27 others. <strong>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.</strong> Lancet 380: 1674-1682, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23020937</a>] [<a href="https://doi.org/10.1016/S0140-6736(12)61480-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23020937">Rauch et al. (2012)</a> identified a de novo heterozygous 1-bp deletion (c.1809delG) in the CHD2 gene, resulting in a frameshift and premature termination (Thr604LeufsTer19). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in either parent. The patient had delayed psychomotor development with an IQ of 50-69 and onset of absence seizures at age 5 years. She was ascertained from a large cohort of 51 patients with intellectual disability who underwent exome sequencing. <a href="#5" class="mim-tip-reference" title="Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., and 27 others. <strong>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.</strong> Lancet 380: 1674-1682, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23020937</a>] [<a href="https://doi.org/10.1016/S0140-6736(12)61480-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23020937">Rauch et al. (2012)</a> postulated haploinsufficiency as the disease mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23020937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 17-year-old boy with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Glu1412GlyfsTer64) and likely resulting in haploinsufficiency. The patient had onset of atonic seizures at age 1 year and later developed absence seizures, febrile seizures, myoclonic-atonic jerks, and tonic-clonic seizures associated with generalized 3.8-Hz spike-wave abnormalities on EEG. He had mildly delayed development before the onset of seizures, and moderate intellectual disability and autism spectrum disorder later. The clinical diagnosis was 'myoclonic atonic epilepsy.' The mutation was identified by targeted sequencing of candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054509 OR RCV003162428" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054509, RCV003162428" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054509...</a>
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<p>In a 12-year-old girl with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> identified a de novo heterozygous arg121-to-ter (R121X) substitution in the CHD2 gene, likely resulting in haploinsufficiency. The patient had normal development until 1 year of age, when she developed multiple seizure types, including myoclonic jerks, tonic and tonic-clonic seizures, myoclonic absence seizures, and status epilepticus. She showed cognitive regression and severe intellectual disability. EEG showed multiple abnormalities. The mutation was identified by targeted sequencing of candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" 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 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054510" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054510" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054510</a>
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<p>In a 29-year-old woman with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Gly491ValfsTer13) and likely resulting in haploinsufficiency. The patient had delayed development and onset of multiple seizure types at age 1 year, including atypical absence, atonic, myoclonic jerks, tonic and tonic-clonic seizures, and status epilepticus associated with multiple EEG abnormalities. She had developmental regression and severe intellectual disability. The mutation was identified by targeted sequencing of candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, ARG1644LYSFSTER22
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054511</a>
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<p>In a 12-year-old boy with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Arg1644LyfsTer22) and likely resulting in haploinsufficiency. The patient had normal development until onset of atonic seizures at age 2 years. Other seizure types included myoclonic jerks, tonic-clonic seizures, and status epilepticus associated with multiple EEG abnormalities. Thereafter, he showed developmental regression and had severe intellectual disability. The clinical diagnosis was 'myoclonic atonic epilepsy.' The mutation was identified by targeted sequencing of candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" 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>.0006 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, TRP548ARG
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054512" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054512" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054512</a>
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<p>In a 15-year-old boy with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#1" class="mim-tip-reference" title="Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others. <strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong> Nature Genet. 45: 825-830, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[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/ng.2646" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23708187">Carvill et al. (2013)</a> identified a de novo heterozygous trp548-to-arg (W548R) substitution at a highly conserved residue in the SNF2-related helicase domain of CHD2. The patient had delayed development and onset of tonic-clonic seizures at age 3 years. Other seizure types included focal dyscognitive seizures, hemiclonic seizures, and myoclonic jerks associated with multiple EEG abnormalities. He showed developmental regression and moderate intellectual disability. The mutation was identified by targeted sequencing of candidate genes. Functional studies on this missense mutation were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" 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>.0007 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, TRP1657TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122998 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122998;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=rs398122998" 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=rs398122998" 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=RCV000077771 OR RCV000623164 OR RCV000995435" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077771, RCV000623164, RCV000995435" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077771...</a>
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<p>In a patient with developmental and epileptic encephalopathy (DEE94; <a href="/entry/615369">615369</a>), <a href="#6" class="mim-tip-reference" title="Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others. <strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong> Am. J. Hum. Genet. 93: 967-975, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24207121">Suls et al. (2013)</a> identified a de novo heterozygous c.4971G-A transition in exon 38 of the CHD2 gene, resulting in a trp1657-to-ter (W1657X) substitution. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the 1000 Genomes Project, Exome Variant Server, or dbSNP (build 137) databases. Studies of patient cells showed that the mutant transcript was not subject to nonsense-mediated mRNA decay. The patient had normal development until the onset of febrile seizures at age 2 years. She later developed treatment-resistant myoclonic and generalized seizures associated with spike-wave complexes and polyspikes on EEG. She had mild to moderate intellectual disability at age 24 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24207121" 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 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, IVS15AS, A-C, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122999 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122999;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=rs398122999" 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=rs398122999" 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=RCV000077772" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077772" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077772</a>
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<span class="mim-text-font">
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<p>In a patient with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#6" class="mim-tip-reference" title="Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others. <strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong> Am. J. Hum. Genet. 93: 967-975, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24207121">Suls et al. (2013)</a> identified a de novo heterozygous A-to-C transversion in the splice acceptor site of exon 16 (c.1810-2A-C). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the 1000 Genomes Project, Exome Variant Server, or dbSNP (build 137) databases. Studies of patient cells showed that the mutant transcript was not subject to nonsense-mediated mRNA decay, but resulted in complex alternative splicing events. The patient showed normal development until the onset of febrile seizures at age 14 months. This was followed by treatment-resistant myoclonic seizures, atypical absence seizures, and generalized tonic-clonic seizures with status epilepticus. At age 6 years, he had mild to moderate intellectual disability, dysarthria, and ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24207121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, ARG466TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398123000 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123000;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=rs398123000" 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=rs398123000" 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=RCV000077773 OR RCV000260224" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077773, RCV000260224" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077773...</a>
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<p>In a patient with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>), <a href="#6" class="mim-tip-reference" title="Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others. <strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong> Am. J. Hum. Genet. 93: 967-975, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24207121">Suls et al. (2013)</a> identified a de novo heterozygous c.1396C-T transition in exon 13 of the CHD2 gene, resulting in an arg466-to-ter (R466X) substitution. The mutation was found by sequencing the CHD2 gene in a cohort of 150 patients with epileptic encephalopathy. The mutation was not present in the 1000 Genomes Project, Exome Variant Server, or dbSNP (build 137) databases. Studies of patient cells showed that the mutant transcript was not subject to nonsense-mediated mRNA decay. The patient had slightly delayed psychomotor development before the onset of febrile seizures at age 3.5 years. He later developed multiple seizure types and had mild intellectual disability, autism spectrum disorder, attention deficit-hyperactivity disorder, and mild ataxia. Brain MRI showed atrophic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24207121" 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 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, GLU210TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1567133726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1567133726;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=rs1567133726" 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=rs1567133726" 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=RCV000679947" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000679947" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000679947</a>
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<p>In a 5-year-old proband with developmental and epileptic encephalopathy-94 (DEE94; <a href="/entry/615369">615369</a>) and her mildly affected mother, <a href="#4" class="mim-tip-reference" title="Petersen, A. K., Streff, H., Tokita, M., Bostwick, B. L. <strong>The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.</strong> Am. J. Med. Genet. 176A: 1667-1669, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29740950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29740950</a>] [<a href="https://doi.org/10.1002/ajmg.a.38835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29740950">Petersen et al. (2018)</a> identified a heterozygous c.628G-T transversion (c.628G-T, NM_001271) in exon 7 of the CHD2 gene, resulting in a glu210-to-ter (E210X) substitution. The daughter had global developmental delay, first noted at age 12 months, and onset of medically refractory generalized epilepsy at age 13 months. Her mother had generalized tonic-clonic epilepsy with seizure onset at age 5 years, which was well-controlled with medications, and completed high school in mainstream classes without difficulty. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29740950" 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="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Carvill2013" class="mim-anchor"></a>
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Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others.
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<strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong>
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Nature Genet. 45: 825-830, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23708187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23708187</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23708187[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23708187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2646" target="_blank">Full Text</a>]
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Kim, Y., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., Hunt, R. F.
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<strong>Chd2 is necessary for neural circuit development and long-term memory.</strong>
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Neuron 100: 1180-1193, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30344048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30344048</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30344048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.neuron.2018.09.049" target="_blank">Full Text</a>]
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<a id="Kulkarni2008" class="mim-anchor"></a>
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Kulkarni, S., Nagarajan, P., Wall, J., Donovan, D. J., Donell, R. L., Ligon, A. H., Venkatachalam, S., Quade, B. J.
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<strong>Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.</strong>
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Am. J. Med. Genet. 146A: 1117-1127, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18386809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18386809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18386809[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18386809" 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.32178" target="_blank">Full Text</a>]
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Petersen, A. K., Streff, H., Tokita, M., Bostwick, B. L.
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<strong>The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.</strong>
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Am. J. Med. Genet. 176A: 1667-1669, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29740950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29740950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29740950" 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.38835" target="_blank">Full Text</a>]
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<a id="Rauch2012" class="mim-anchor"></a>
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Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., and 27 others.
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<strong>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.</strong>
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Lancet 380: 1674-1682, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23020937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23020937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(12)61480-9" target="_blank">Full Text</a>]
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Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others.
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<strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong>
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Am. J. Hum. Genet. 93: 967-975, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24207121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24207121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24207121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24207121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.09.017" target="_blank">Full Text</a>]
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Woodage, T., Basrai, M. A., Baxevanis, A. D., Hieter, P., Collins, F. S.
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<strong>Characterization of the CHD family of proteins.</strong>
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Proc. Nat. Acad. Sci. 94: 11472-11477, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326634</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9326634[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326634" 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/10.1073/pnas.94.21.11472" target="_blank">Full Text</a>]
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Bao Lige - updated : 02/12/2019
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Sonja A. Rasmussen - updated : 01/07/2019<br>Cassandra L. Kniffin - updated : 12/30/2013<br>Cassandra L. Kniffin - updated : 8/15/2013<br>Cassandra L. Kniffin - updated : 8/20/2008
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Victor A. McKusick : 11/13/1997
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mgross : 02/13/2019<br>mgross : 02/12/2019<br>carol : 01/07/2019<br>joanna : 08/31/2015<br>carol : 1/2/2014<br>mcolton : 12/30/2013<br>ckniffin : 12/30/2013<br>carol : 9/9/2013<br>carol : 8/19/2013<br>ckniffin : 8/15/2013<br>wwang : 8/27/2008<br>ckniffin : 8/20/2008<br>joanna : 8/15/2008<br>dkim : 12/8/1998<br>psherman : 11/6/1998<br>mark : 11/13/1997<br>mark : 11/13/1997
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<span class="mim-font">
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<strong>*</strong> 602119
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</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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CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: CHD2</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>
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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: 15q26.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:92,900,324-93,027,996 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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15q26.1
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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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Developmental and epileptic encephalopathy 94
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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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615369
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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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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<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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The CHD2 gene encodes a member of the chromodomain helicase DNA-binding (CHD) family of proteins, which are characterized by a chromatin-remodeling domain, termed the chromodomain, and an SNF2-related helicase/ATPase domain. These domains suggest that these proteins function as chromatin remodelers (summary by Carvill et al., 2013). </p><p>See CHD1 (602118) for a description of this gene family.</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>Cloning and Expression</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>Woodage et al. (1997) characterized the human CHD2 gene. The predicted 1,739-amino acid polypeptide shares 58.6% identity and 69.5% similarity overall with the mouse Chd1 gene product. </p><p>Kulkarni et al. (2008) showed that murine Chd2 was expressed in the heart, forebrain, extremities, facial and dorsal regions during specific times of embryonic development. </p><p>Using immunofluorescence analysis, Kim et al. (2018) found that Chd2 was widely expressed throughout young adult mouse brain, with strong expression in olfactory bulb, neocortex, hippocampus, and cerebellum. Chd2 expression was limited to mature neurons, interneurons, and oligodendrocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Woodage et al. (1997) mapped the CHD2 gene to chromosome 15q26 by PCR screening of the Genebridge 4 radiation hybrid mapping panel. </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>Cytogenetics</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>Kulkarni et al. (2008) reported a 17-year-old girl with a balanced de novo translocation, t(X;15)(p22.2;q26.1) that disrupted the CHD2 gene. No known or predicted genes were disrupted by the Xp22.2 breakpoint. Clinical features included scoliosis, hirsutism, learning problems, and developmental delay. She also had a high-arched palate, 2-3 syndactyly of the toes, masculinized face, low voice, and mildly elevated serum testosterone. Kulkarni et al. (2008) suggested that haploinsufficiency of CHD2 could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome (214800), which is caused by mutations in the CHD7 gene (608892). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a German girl (MS134) with developmental and epileptic encephalopathy-94 (DEE94; 615369), Rauch et al. (2012) identified a de novo heterozygous truncating mutation in the CHD2 gene (602119.0001). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in either parent. The patient had delayed psychomotor development with an IQ of 50-69 and onset of absence seizures at age 5 years. She was ascertained from a large cohort of 51 patients with intellectual disability who underwent exome sequencing. Rauch et al. (2012) postulated haploinsufficiency as the disease mechanism. </p><p>In 6 unrelated patients with DEE94, Carvill et al. (2013) identified 6 different de novo heterozygous mutations in the CHD2 gene (see, e.g., 602119.0002-602119.0006). Four of the mutations were truncating, and 2 were missense substitutions at highly conserved residues. The mutations were found by targeted sequencing of known or candidate genes in 500 individuals with epileptic encephalopathies, and thus accounted for 1.2% of cases. The median age of seizure onset was 18 months (range, 1-3 years), and all patients had myoclonic seizures in addition to variable seizure types, including absence, atonic, tonic, tonic-clonic, febrile, and status epilepticus. Four patients had developmental delay before the onset of seizures, 5 showed developmental regression after the onset of seizures, 3 had photosensitivity, and all had moderate to severe intellectual disability. EEG studies showed multiple abnormalities. At the time of the report, the patients ranged in age from 2.5 to 29 years. There were no apparent genotype/phenotype correlations. Carvill et al. (2013) postulated haploinsufficiency as the disease mechanism. They noted that mutations in the related CHD7 gene (608892) cause developmental abnormalities. </p><p>In 3 unrelated patients with DEE94, Suls et al. (2013) identified 3 different de novo heterozygous mutations in the CHD2 gene (602119.0007-602119.0009). The mutations in the first 2 patients were found by whole-exome sequencing of 9 probands with a similar disorder. The third patient was identified by sequencing of the CHD2 gene in 150 probands with epileptic encephalopathy. The patients had onset of seizures associated with fever between the ages of 14 months and 3.5 years. All subsequently developed multiple seizure types, mostly therapy-resistant, that were associated with EEG abnormalities. Two had normal development before the onset of seizures, whereas 1 patient had mildly delayed development before the onset of seizures. All had mild but persistent intellectual and neurologic impairment. Suls et al. (2013) postulated that haploinsufficiency for CHD2 was responsible for the phenotype, and suggested that helicase dysfunction in humans may result in neuronal hyperexcitability in the absence of dysmorphic features. </p><p>In a 5-year-old proband with DEE94 and her mildly affected mother, Petersen et al. (2018) identified a heterozygous nonsense mutation in the CHD2 gene (E210X; 602119.0010). The authors noted that this was the first known case of an inherited autosomal dominant pathogenic CHD2 variant in a clinically affected mother and daughter, and emphasized the importance of parental testing before providing recurrence risk estimates. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Kulkarni et al. (2008) found that a mutant mouse with complete Chd2 disruption showed embryonic and perinatal lethality. Chd2 +/- mice showed pronounced lordosis, kyphosis, reduced body fat, postnatal runting, and growth retardation. </p><p>Kim et al. (2018) found that Chd2 +/- mice were viable and fertile, but that they had reduced body weight compared with wildtype. Chd2 +/- mice expressed half of the amount of Chd2 protein in brain compared with wildtype and exhibited mild lordokyphosis, but no substantial disruption in cortical cytoarchitecture. Chd2 +/- mice had reduced numbers of GABAergic interneurons, and further analysis demonstrated a role for Chd2 in cell proliferation, terminal differentiation, and maturation of cortical principal neurons and GABAergic interneurons. Chd2 haploinsufficiency disrupted cell proliferation and neurogenesis in developing forebrain and led to broad dysregulation of genes involved in disease-related pathways, neurogenesis, and synapse organization. Chd2 +/- mice had disrupted excitatory and inhibitory synaptic functions in hippocampus and exhibited changes in cortical rhythmogenesis. In addition, Chd2 +/- mice displayed severe deficits in long-term spatial and recognition memory. However, increasing the number of inhibitory interneurons by transplantation in Chd2 +/- mice rescued the deficits in long-term spatial memory, but recognition memory remained impaired. </p><p>Suls et al. (2013) found that morpholino knockdown of Chd2 in zebrafish resulted in multiple developmental abnormalities, including pericardial edema, microcephaly, body curvature, absent swim bladder, and stunted growth. Mutant zebrafish larvae also showed abnormal movement patterns, such as twitching and trembling, associated with epileptiform discharges. </p>
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|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
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|
|
CHD2, 1-BP DEL, 1809G
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|
|
<br />
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|
|
SNP: rs397514739,
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|
|
|
|
|
ClinVar: RCV000054507
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German girl (MS134) with developmental and epileptic encephalopathy-94 (DEE94; 615369), Rauch et al. (2012) identified a de novo heterozygous 1-bp deletion (c.1809delG) in the CHD2 gene, resulting in a frameshift and premature termination (Thr604LeufsTer19). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in either parent. The patient had delayed psychomotor development with an IQ of 50-69 and onset of absence seizures at age 5 years. She was ascertained from a large cohort of 51 patients with intellectual disability who underwent exome sequencing. Rauch et al. (2012) postulated haploinsufficiency as the disease mechanism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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<div>
|
|
<br />
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</div>
|
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|
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</div>
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CHD2, GLU1412GLYFSTER64
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|
|
<br />
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|
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|
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ClinVar: RCV000054508
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|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old boy with developmental and epileptic encephalopathy-94 (DEE94; 615369), Carvill et al. (2013) identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Glu1412GlyfsTer64) and likely resulting in haploinsufficiency. The patient had onset of atonic seizures at age 1 year and later developed absence seizures, febrile seizures, myoclonic-atonic jerks, and tonic-clonic seizures associated with generalized 3.8-Hz spike-wave abnormalities on EEG. He had mildly delayed development before the onset of seizures, and moderate intellectual disability and autism spectrum disorder later. The clinical diagnosis was 'myoclonic atonic epilepsy.' The mutation was identified by targeted sequencing of candidate genes. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</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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CHD2, ARG121TER
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<br />
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|
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SNP: rs397514740,
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|
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ClinVar: RCV000054509, RCV003162428
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old girl with developmental and epileptic encephalopathy-94 (DEE94; 615369), Carvill et al. (2013) identified a de novo heterozygous arg121-to-ter (R121X) substitution in the CHD2 gene, likely resulting in haploinsufficiency. The patient had normal development until 1 year of age, when she developed multiple seizure types, including myoclonic jerks, tonic and tonic-clonic seizures, myoclonic absence seizures, and status epilepticus. She showed cognitive regression and severe intellectual disability. EEG showed multiple abnormalities. The mutation was identified by targeted sequencing of candidate genes. </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>.0004 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</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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CHD2, GLY491VALFSTER13
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<br />
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ClinVar: RCV000054510
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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 29-year-old woman with developmental and epileptic encephalopathy-94 (DEE94; 615369), Carvill et al. (2013) identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Gly491ValfsTer13) and likely resulting in haploinsufficiency. The patient had delayed development and onset of multiple seizure types at age 1 year, including atypical absence, atonic, myoclonic jerks, tonic and tonic-clonic seizures, and status epilepticus associated with multiple EEG abnormalities. She had developmental regression and severe intellectual disability. The mutation was identified by targeted sequencing of candidate genes. </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>.0005 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</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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CHD2, ARG1644LYSFSTER22
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<br />
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ClinVar: RCV000054511
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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 12-year-old boy with developmental and epileptic encephalopathy-94 (DEE94; 615369), Carvill et al. (2013) identified a de novo heterozygous frameshift mutation in the CHD2 gene, resulting in premature termination (Arg1644LyfsTer22) and likely resulting in haploinsufficiency. The patient had normal development until onset of atonic seizures at age 2 years. Other seizure types included myoclonic jerks, tonic-clonic seizures, and status epilepticus associated with multiple EEG abnormalities. Thereafter, he showed developmental regression and had severe intellectual disability. The clinical diagnosis was 'myoclonic atonic epilepsy.' The mutation was identified by targeted sequencing of candidate genes. </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 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</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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CHD2, TRP548ARG
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<br />
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ClinVar: RCV000054512
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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 15-year-old boy with developmental and epileptic encephalopathy-94 (DEE94; 615369), Carvill et al. (2013) identified a de novo heterozygous trp548-to-arg (W548R) substitution at a highly conserved residue in the SNF2-related helicase domain of CHD2. The patient had delayed development and onset of tonic-clonic seizures at age 3 years. Other seizure types included focal dyscognitive seizures, hemiclonic seizures, and myoclonic jerks associated with multiple EEG abnormalities. He showed developmental regression and moderate intellectual disability. The mutation was identified by targeted sequencing of candidate genes. Functional studies on this missense mutation were not performed. </p>
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<strong>.0007 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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CHD2, TRP1657TER
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<br />
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SNP: rs398122998,
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ClinVar: RCV000077771, RCV000623164, RCV000995435
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<p>In a patient with developmental and epileptic encephalopathy (DEE94; 615369), Suls et al. (2013) identified a de novo heterozygous c.4971G-A transition in exon 38 of the CHD2 gene, resulting in a trp1657-to-ter (W1657X) substitution. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the 1000 Genomes Project, Exome Variant Server, or dbSNP (build 137) databases. Studies of patient cells showed that the mutant transcript was not subject to nonsense-mediated mRNA decay. The patient had normal development until the onset of febrile seizures at age 2 years. She later developed treatment-resistant myoclonic and generalized seizures associated with spike-wave complexes and polyspikes on EEG. She had mild to moderate intellectual disability at age 24 years. </p>
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<strong>.0008 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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</span>
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CHD2, IVS15AS, A-C, -2
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<br />
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SNP: rs398122999,
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ClinVar: RCV000077772
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<p>In a patient with developmental and epileptic encephalopathy-94 (DEE94; 615369), Suls et al. (2013) identified a de novo heterozygous A-to-C transversion in the splice acceptor site of exon 16 (c.1810-2A-C). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the 1000 Genomes Project, Exome Variant Server, or dbSNP (build 137) databases. Studies of patient cells showed that the mutant transcript was not subject to nonsense-mediated mRNA decay, but resulted in complex alternative splicing events. The patient showed normal development until the onset of febrile seizures at age 14 months. This was followed by treatment-resistant myoclonic seizures, atypical absence seizures, and generalized tonic-clonic seizures with status epilepticus. At age 6 years, he had mild to moderate intellectual disability, dysarthria, and ataxia. </p>
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<span class="mim-font">
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<strong>.0009 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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</span>
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CHD2, ARG466TER
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<br />
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SNP: rs398123000,
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ClinVar: RCV000077773, RCV000260224
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<p>In a patient with developmental and epileptic encephalopathy-94 (DEE94; 615369), Suls et al. (2013) identified a de novo heterozygous c.1396C-T transition in exon 13 of the CHD2 gene, resulting in an arg466-to-ter (R466X) substitution. The mutation was found by sequencing the CHD2 gene in a cohort of 150 patients with epileptic encephalopathy. The mutation was not present in the 1000 Genomes Project, Exome Variant Server, or dbSNP (build 137) databases. Studies of patient cells showed that the mutant transcript was not subject to nonsense-mediated mRNA decay. The patient had slightly delayed psychomotor development before the onset of febrile seizures at age 3.5 years. He later developed multiple seizure types and had mild intellectual disability, autism spectrum disorder, attention deficit-hyperactivity disorder, and mild ataxia. Brain MRI showed atrophic changes. </p>
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<span class="mim-font">
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<strong>.0010 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94</strong>
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</span>
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</h4>
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CHD2, GLU210TER
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SNP: rs1567133726,
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ClinVar: RCV000679947
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<p>In a 5-year-old proband with developmental and epileptic encephalopathy-94 (DEE94; 615369) and her mildly affected mother, Petersen et al. (2018) identified a heterozygous c.628G-T transversion (c.628G-T, NM_001271) in exon 7 of the CHD2 gene, resulting in a glu210-to-ter (E210X) substitution. The daughter had global developmental delay, first noted at age 12 months, and onset of medically refractory generalized epilepsy at age 13 months. Her mother had generalized tonic-clonic epilepsy with seizure onset at age 5 years, which was well-controlled with medications, and completed high school in mainstream classes without difficulty. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., and 22 others.
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<strong>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.</strong>
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Nature Genet. 45: 825-830, 2013.
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[PubMed: 23708187]
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[Full Text: https://doi.org/10.1038/ng.2646]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kim, Y., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., Hunt, R. F.
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<strong>Chd2 is necessary for neural circuit development and long-term memory.</strong>
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Neuron 100: 1180-1193, 2018.
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[PubMed: 30344048]
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[Full Text: https://doi.org/10.1016/j.neuron.2018.09.049]
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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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Kulkarni, S., Nagarajan, P., Wall, J., Donovan, D. J., Donell, R. L., Ligon, A. H., Venkatachalam, S., Quade, B. J.
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<strong>Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.</strong>
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Am. J. Med. Genet. 146A: 1117-1127, 2008.
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[PubMed: 18386809]
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[Full Text: https://doi.org/10.1002/ajmg.a.32178]
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</li>
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<li>
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<p class="mim-text-font">
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Petersen, A. K., Streff, H., Tokita, M., Bostwick, B. L.
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<strong>The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.</strong>
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Am. J. Med. Genet. 176A: 1667-1669, 2018.
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[PubMed: 29740950]
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[Full Text: https://doi.org/10.1002/ajmg.a.38835]
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</p>
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<li>
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<p class="mim-text-font">
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Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., and 27 others.
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<strong>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.</strong>
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Lancet 380: 1674-1682, 2012.
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[PubMed: 23020937]
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[Full Text: https://doi.org/10.1016/S0140-6736(12)61480-9]
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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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Suls, A., Jaehn, J. A., Kecskes, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djemie, T., Afrikanova, T., Gormley, P., von Spiczak, S., Kluger, G., and 32 others.
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<strong>De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.</strong>
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Am. J. Hum. Genet. 93: 967-975, 2013.
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[PubMed: 24207121]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.09.017]
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<p class="mim-text-font">
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Woodage, T., Basrai, M. A., Baxevanis, A. D., Hieter, P., Collins, F. S.
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<strong>Characterization of the CHD family of proteins.</strong>
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Proc. Nat. Acad. Sci. 94: 11472-11477, 1997.
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[PubMed: 9326634]
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[Full Text: https://doi.org/10.1073/pnas.94.21.11472]
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Bao Lige - updated : 02/12/2019<br>Sonja A. Rasmussen - updated : 01/07/2019<br>Cassandra L. Kniffin - updated : 12/30/2013<br>Cassandra L. Kniffin - updated : 8/15/2013<br>Cassandra L. Kniffin - updated : 8/20/2008
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Victor A. McKusick : 11/13/1997
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carol : 04/14/2021<br>mgross : 02/13/2019<br>mgross : 02/12/2019<br>carol : 01/07/2019<br>joanna : 08/31/2015<br>carol : 1/2/2014<br>mcolton : 12/30/2013<br>ckniffin : 12/30/2013<br>carol : 9/9/2013<br>carol : 8/19/2013<br>ckniffin : 8/15/2013<br>wwang : 8/27/2008<br>ckniffin : 8/20/2008<br>joanna : 8/15/2008<br>dkim : 12/8/1998<br>psherman : 11/6/1998<br>mark : 11/13/1997<br>mark : 11/13/1997
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