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Entry
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- *611472 - METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
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- OMIM
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<p>
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<span class="h4">*611472</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611472">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000204406;t=ENST00000642680" 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=55777" 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=611472" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span 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=ENSG00000204406;t=ENST00000642680" 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_001378120,NM_018328,XM_011511470,XM_011511472,XM_024452988,XM_024452989,XM_024452990,XM_047445055,XM_047445056,XM_047445057,XM_047445058,XM_047445063,XM_047445068,XM_047445074,XM_047445077,XM_047445078,XM_047445079,XM_047445080,XM_047445081,XM_047445082,XM_047445083,XM_047445084,XM_047445085,XM_047445086,XM_047445087,XM_047445088,XM_047445089,XM_047445090,XM_047445091,XM_047445092,XM_047445093" 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_001378120" 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=611472" 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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<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=11295&isoform_id=11295_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/MBD5" 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/38202209,62822363,119631955,119631956,119631957,146289922,152013048,193786849,194385756,296439306,767918845,767918849,929654552,1370478221,1370478223,1370478226,1802776415,2217329487,2217329489,2217329491,2217329493,2217329495,2217329497,2217329499,2217329501,2217329503,2217329505,2217329508,2217329510,2217329512,2217329514,2217329516,2217329518,2217329522,2217329524,2217329526,2217329529,2217329531,2217329533,2217329535,2217329537,2462575129,2462575131,2462575133,2462575135,2462575137,2462575139,2462575141,2462575143,2462575145,2462575147,2462575149,2462575151,2462575153,2462575155,2462575157,2462575159,2462575161,2462575163,2462575165,2462575167,2462575169,2462575171,2462575173,2462575175,2462575177,2462575179,2462575181,2462575183,2462575185" 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/Q9P267" 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=55777" 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=ENSG00000204406;t=ENST00000642680" 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=MBD5" 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=MBD5" 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+55777" 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/MBD5" 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:55777" 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/55777" 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=chr2&hgg_gene=ENST00000642680.2&hgg_start=148020927&hgg_end=148516971&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20444" 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:20444" 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/mbd5" 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=611472[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=611472[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/MBD5/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/ENSG00000204406" 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=MBD5" 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=MBD5" 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=MBD5" 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=MBD5&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/PA134924244" 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:20444" 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/FBgn0016754.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:2138934" 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/MBD5#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:2138934" 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/55777/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=55777" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070209-125" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55777" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=MBD5&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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611472
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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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METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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KIAA1461
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MBD5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MBD5</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/2/679?start=-3&limit=10&highlight=679">2q23.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:148020927-148516971&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'})">2:148,020,927-148,516,971</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>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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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">
|
|
<a href="/geneMap/2/679?start=-3&limit=10&highlight=679">
|
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2q23.1
|
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</a>
|
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</span>
|
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</td>
|
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|
|
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<td>
|
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<span class="mim-font">
|
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Intellectual developmental disorder, autosomal dominant 1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/156200"> 156200 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p>MBD5 belongs to the methyl-CpG-binding domain (MBD) family and interacts with the Polycomb repressive deubiquitinase (PR-DUB) complex (see BAP1, <a href="/entry/603089">603089</a>) (<a href="#1" class="mim-tip-reference" title="Baymaz, H. I., Fournier, A., Laget, S., Ji, Z., Jansen, P. W. T. C., Smits, A. H., Ferry, L., Mensinga, A., Poser, I., Sharrocks, A., Defossez, P.-A., Vermeulen, M. <strong>MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.</strong> Proteomics 14: 2179-2189, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24634419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24634419</a>] [<a href="https://doi.org/10.1002/pmic.201400013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24634419">Baymaz et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24634419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 143-150, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>] [<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10819331">Nagase et al. (2000)</a> cloned MBD5, which they designated KIAA1461. The deduced protein contains 1,498 amino acids. RT-PCR ELISA detected moderate expression in whole adult brain, but no expression was detected in peripheral tissues. Expression was moderate in cerebellum, weak in all other specific brain regions examined, and very weak in spinal cord and fetal brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" 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="#4" class="mim-tip-reference" title="Laget, S., Joulie, M., Le Masson, F., Sasai, N., Christians, E., Pradhan, S., Roberts, R. J., Defossez, P.-A. <strong>The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.</strong> PLoS One 5: e11982, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20700456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20700456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20700456[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/10.1371/journal.pone.0011982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20700456">Laget et al. (2010)</a> reported that human MBD5 has 2 isoforms. The longer isoform (isoform-1) contains 1,448 amino acids and has an N-terminal MBD, a proline-rich segment, a proline-tryptophan-tryptophan-proline (PWWP) domain, and 2 nuclear localization signals (NLS). The shorter isoform (isoform-2) contains 851 amino acids and has an N-terminal MBD, a proline-rich segment, and an NLS. Western blot analysis confirmed that the 2 isoforms were expressed in cultured human cells. Quantitative RT-PCR revealed that Mbd5 isoform-1 was expressed in all mouse tissues tested, with lowest expression in embryo and highest expression in brain and testis. Expression of isoform-2 was relatively homogeneous in all mouse tissues tested, but it was high in oocytes. Expression of fluorescence-tagged MBD5 in NIH-3T3 mouse cells showed that both isoforms were nuclear proteins, with isoform-1 always found at chromocenters at methylated loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20700456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M. <strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong> Am. J. Hum. Genet. 81: 768-779, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847001">Wagenstaller et al. (2007)</a> determined that the MBD5 gene contains 5 noncoding exons at its 5-prime end, followed by 10 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17847001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 143-150, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>] [<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10819331">Nagase et al. (2000)</a> mapped the MBD5 gene to chromosome 2. <a href="#8" class="mim-tip-reference" title="Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M. <strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong> Am. J. Hum. Genet. 81: 768-779, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847001">Wagenstaller et al. (2007)</a> stated that the MBD5 gene maps to chromosome 2q23.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17847001+10819331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By mutation analysis, <a href="#4" class="mim-tip-reference" title="Laget, S., Joulie, M., Le Masson, F., Sasai, N., Christians, E., Pradhan, S., Roberts, R. J., Defossez, P.-A. <strong>The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.</strong> PLoS One 5: e11982, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20700456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20700456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20700456[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/10.1371/journal.pone.0011982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20700456">Laget et al. (2010)</a> showed that the MBD of MBD5 was required for its localization at chromocenters. Localization of MBD5 at chromocenters did not require the presence of methylated DNA, as MBD5 could bind DNA in cells that had lost methylation. In vitro analysis revealed that the MBD of MBD5 did not bind methylated DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20700456" 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 pull-down assays, <a href="#1" class="mim-tip-reference" title="Baymaz, H. I., Fournier, A., Laget, S., Ji, Z., Jansen, P. W. T. C., Smits, A. H., Ferry, L., Mensinga, A., Poser, I., Sharrocks, A., Defossez, P.-A., Vermeulen, M. <strong>MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.</strong> Proteomics 14: 2179-2189, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24634419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24634419</a>] [<a href="https://doi.org/10.1002/pmic.201400013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24634419">Baymaz et al. (2014)</a> showed that MBD5 and MBD6 (<a href="/entry/619458">619458</a>) interacted with human PR-DUB in a mutually exclusive manner. Mutation analysis revealed that interaction with the PR-DUB complex was through the highly homologous MBD of MBD5 and MBD6. Live-cell imaging showed that MBD6, but not MBD5, was recruited to sites of DNA damage, indicating that MBD5 and MBD6 had functional distinctions despite both binding to the PR-DUB complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24634419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M. <strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong> Am. J. Hum. Genet. 81: 768-779, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847001">Wagenstaller et al. (2007)</a> identified a 200-kb deletion that removed 1 noncoding exon and the first 7 coding exons of the MBD5 gene (<a href="#0001">611472.0001</a>) in a boy with intellectual developmental disorder (MRD1; <a href="/entry/156200">156200</a>). The deletion was absent in parental DNA, and the remaining allele had a normal coding region. <a href="#8" class="mim-tip-reference" title="Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M. <strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong> Am. J. Hum. Genet. 81: 768-779, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847001">Wagenstaller et al. (2007)</a> screened 415 DNAs from children with mental retardation and found 4 missense variants that were not present in 660 controls. No parental DNA was available to determine the origin of these mutations. <a href="#8" class="mim-tip-reference" title="Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M. <strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong> Am. J. Hum. Genet. 81: 768-779, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847001">Wagenstaller et al. (2007)</a> stated that confirmation of the pathogenicity of these variants awaited screening of a panel enriched for epileptic seizures for which parental DNA was available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17847001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From a large international multicenter collaboration, <a href="#7" class="mim-tip-reference" title="Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., and 23 others. <strong>Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.</strong> Am. J. Hum. Genet. 89: 551-563, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21981781[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.2011.09.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21981781">Talkowski et al. (2011)</a> ascertained 65 patients with heterozygous deletion (63 cases) or translocation (2 cases) involving chromosome 2q23.1 (see <a href="/entry/156200">156200</a>). The deletions ranged in size from 38 kb to greater than 19 Mb. The smallest region of overlap in all cases was confined to 1 gene, MBD5, and 14 (21.5%) of the 65 microdeletions and translocations were exclusively localized to MBD5, including several deletions that were restricted to noncoding regions and did not alter the protein sequence. The deletions or translocations were associated with haploinsufficiency of the MBD5 gene (22.5 to 55.4% of controls), as determined by mRNA expression analysis. <a href="#7" class="mim-tip-reference" title="Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., and 23 others. <strong>Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.</strong> Am. J. Hum. Genet. 89: 551-563, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21981781[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.2011.09.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21981781">Talkowski et al. (2011)</a> also identified MBD5 deletions in approximately 0.18% of patients with autism spectrum disorders (see <a href="/entry/156200">156200</a>) from 2 large cohorts (1,786 and 2,275 patients, respectively), whereas deletions at this locus were not found in 7,878 controls. Moreover, there was a significant association between a gly79-to-glu (G79E) missense variant in a highly conserved methyl-CpG-binding domain in 747 patients with autism spectrum disorder compared with 2,043 controls (odds ratio of 5.47, p = 0.012). <a href="#7" class="mim-tip-reference" title="Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., and 23 others. <strong>Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.</strong> Am. J. Hum. Genet. 89: 551-563, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21981781[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.2011.09.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21981781">Talkowski et al. (2011)</a> noted that the MBD5 gene belongs to a family of genes involved in DNA methylation and/or chromatin remodeling, like MECP2 (<a href="/entry/300005">300005</a>), which is mutant or deleted in Rett syndrome (RTT; <a href="/entry/312750">312750</a>), intellectual disabilities, and autism, providing further evidence that alterations of MBD5 may predispose to the risk of these neurodevelopmental disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21981781" 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="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 truncating mutation in the MBD5 gene (<a href="#0002">611472.0002</a>) in a 20-year-old woman with severe mental retardation and epileptic encephalopathy. <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 an 8-year-old Vietnamese boy with MRD1, <a href="#5" class="mim-tip-reference" title="Le, T. N. U., Ha, T. M. T. <strong>MBD5-related intellectual disability in a Vietnamese child.</strong> Am. J. Med. Genet. 185A: 1321-1323, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427406</a>] [<a href="https://doi.org/10.1002/ajmg.a.62077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33427406">Le and Ha (2021)</a> identified a heterozygous splice site mutation in the MBD5 gene (<a href="#0004">611472.0004</a>). The mutations was identified by next-generation sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427406" 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=611472[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a boy with autosomal dominant intellectual developmental disorder (MRD1; <a href="/entry/156200">156200</a>), <a href="#8" class="mim-tip-reference" title="Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M. <strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong> Am. J. Hum. Genet. 81: 768-779, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847001">Wagenstaller et al. (2007)</a> identified a 200-kb deletion that removed 1 noncoding exon and the first 7 coding exons of the MBD5 gene. The deletion region was present in parental DNA but provided no information with regard to the origin of the deletion. In addition to mental retardation, the boy had a sandal gap between the first and second toe, but no facial dysmorphic features. He showed retarded motor development and had febrile seizures at age 8 months and seizures without fever starting at age 16 months. The boy was hypoactive, and social interactions were limited. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17847001" 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 20-year-old woman (T1898) with autosomal dominant intellectual developmental disorder (MRD1; <a href="/entry/156200">156200</a>), <a href="#2" 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 MBD5 gene (NM_018328.4), resulting in premature termination (Thr157GlnfsTer4). The patient had delayed development and onset of tonic-clonic seizures at age 6 months. She later developed absence seizures, focal dyscognitive seizures, focal seizures, and tonic seizures associated with multiple EEG abnormalities, consistent with epileptic encephalopathy. The patient was part of a larger cohort of 500 patients with epileptic encephalopathies who underwent 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122412 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122412;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=rs398122412" 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=rs398122412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 16-year-old boy with autosomal dominant intellectual developmental disorder (MRD1; <a href="/entry/156200">156200</a>), <a href="#3" class="mim-tip-reference" title="Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W., Fenckova, M., van den Akker, W. M. R., Nadif Kasri, N., Nillesen, W. M., Prescott, T., and 10 others. <strong>Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.</strong> Am. J. Hum. Genet. 91: 73-82, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22726846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22726846</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22726846[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.2012.05.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22726846">Kleefstra et al. (2012)</a> identified a de novo heterozygous 1-bp deletion at position 150 of the MBD5 gene, resulting in a frameshift with premature termination 31 amino acids downstream (Thr52HisfsTer31). The patient had short stature, macrocephaly, mild intellectual disability, seizures, and sleep and behavioral problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22726846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1707171202 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1707171202;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=rs1707171202" 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=rs1707171202" 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=RCV001250386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001250386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001250386</a>
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<p>In an 8-year-old Vietnamese boy with autosomal dominant intellectual developmental disorder (MRD1; <a href="/entry/156200">156200</a>), <a href="#5" class="mim-tip-reference" title="Le, T. N. U., Ha, T. M. T. <strong>MBD5-related intellectual disability in a Vietnamese child.</strong> Am. J. Med. Genet. 185A: 1321-1323, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427406</a>] [<a href="https://doi.org/10.1002/ajmg.a.62077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33427406">Le and Ha (2021)</a> identified a heterozygous c.217-1G-C transition (c.217-1G-C, NM_001378120.1) in intron 6 of the MBD5 gene, predicted to result in a splicing abnormality. The mutation, which was identified by next-generation sequencing and confirmed by Sanger sequencing, disrupted the intron 6 splice acceptor site and was predicted to result in absent or disrupted protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Baymaz, H. I., Fournier, A., Laget, S., Ji, Z., Jansen, P. W. T. C., Smits, A. H., Ferry, L., Mensinga, A., Poser, I., Sharrocks, A., Defossez, P.-A., Vermeulen, M.
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<strong>MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.</strong>
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Proteomics 14: 2179-2189, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24634419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24634419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24634419" 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/pmic.201400013" target="_blank">Full Text</a>]
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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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<a id="Kleefstra2012" class="mim-anchor"></a>
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Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W., Fenckova, M., van den Akker, W. M. R., Nadif Kasri, N., Nillesen, W. M., Prescott, T., and 10 others.
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<strong>Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.</strong>
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Am. J. Hum. Genet. 91: 73-82, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22726846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22726846</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22726846[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=22726846" 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.2012.05.003" target="_blank">Full Text</a>]
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<a id="Laget2010" class="mim-anchor"></a>
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Laget, S., Joulie, M., Le Masson, F., Sasai, N., Christians, E., Pradhan, S., Roberts, R. J., Defossez, P.-A.
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<strong>The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.</strong>
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PLoS One 5: e11982, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20700456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20700456</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20700456[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=20700456" 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/10.1371/journal.pone.0011982" target="_blank">Full Text</a>]
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<a id="Le2021" class="mim-anchor"></a>
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Le, T. N. U., Ha, T. M. T.
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<strong>MBD5-related intellectual disability in a Vietnamese child.</strong>
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Am. J. Med. Genet. 185A: 1321-1323, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427406" 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.62077" target="_blank">Full Text</a>]
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<a id="Nagase2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 143-150, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank">Full Text</a>]
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<a id="Talkowski2011" class="mim-anchor"></a>
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Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., and 23 others.
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<strong>Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.</strong>
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Am. J. Hum. Genet. 89: 551-563, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981781</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21981781[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=21981781" 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.2011.09.011" target="_blank">Full Text</a>]
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<a id="Wagenstaller2007" class="mim-anchor"></a>
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Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M.
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<strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong>
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Am. J. Hum. Genet. 81: 768-779, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847001[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=17847001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/521274" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/28/2022
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<span class="mim-text-font">
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Bao Lige - updated : 07/23/2021<br>Ada Hamosh - updated : 11/26/2013<br>Cassandra L. Kniffin - updated : 8/15/2013<br>Cassandra L. Kniffin - updated : 10/24/2011<br>Victor A. McKusick - updated : 10/3/2007
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Patricia A. Hartz : 9/27/2007
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carol : 10/28/2022
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carol : 03/10/2022<br>carol : 11/09/2021<br>mgross : 07/23/2021<br>carol : 08/02/2016<br>alopez : 11/26/2013<br>carol : 8/19/2013<br>ckniffin : 8/15/2013<br>carol : 10/24/2011<br>ckniffin : 10/24/2011<br>alopez : 10/12/2007<br>alopez : 10/8/2007<br>terry : 10/3/2007<br>mgross : 9/27/2007<br>mgross : 9/27/2007
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<strong>*</strong> 611472
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METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
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<em>Alternative titles; symbols</em>
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KIAA1461
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<strong><em>HGNC Approved Gene Symbol: MBD5</em></strong>
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Cytogenetic location: 2q23.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:148,020,927-148,516,971 </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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<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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|
2q23.1
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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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Intellectual developmental disorder, autosomal dominant 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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156200
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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>MBD5 belongs to the methyl-CpG-binding domain (MBD) family and interacts with the Polycomb repressive deubiquitinase (PR-DUB) complex (see BAP1, 603089) (Baymaz et al., 2014). </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>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned MBD5, which they designated KIAA1461. The deduced protein contains 1,498 amino acids. RT-PCR ELISA detected moderate expression in whole adult brain, but no expression was detected in peripheral tissues. Expression was moderate in cerebellum, weak in all other specific brain regions examined, and very weak in spinal cord and fetal brain. </p><p>Laget et al. (2010) reported that human MBD5 has 2 isoforms. The longer isoform (isoform-1) contains 1,448 amino acids and has an N-terminal MBD, a proline-rich segment, a proline-tryptophan-tryptophan-proline (PWWP) domain, and 2 nuclear localization signals (NLS). The shorter isoform (isoform-2) contains 851 amino acids and has an N-terminal MBD, a proline-rich segment, and an NLS. Western blot analysis confirmed that the 2 isoforms were expressed in cultured human cells. Quantitative RT-PCR revealed that Mbd5 isoform-1 was expressed in all mouse tissues tested, with lowest expression in embryo and highest expression in brain and testis. Expression of isoform-2 was relatively homogeneous in all mouse tissues tested, but it was high in oocytes. Expression of fluorescence-tagged MBD5 in NIH-3T3 mouse cells showed that both isoforms were nuclear proteins, with isoform-1 always found at chromocenters at methylated loci. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
|
</div>
|
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<span class="mim-text-font">
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<p>Wagenstaller et al. (2007) determined that the MBD5 gene contains 5 noncoding exons at its 5-prime end, followed by 10 coding exons. </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">
|
|
<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
|
|
|
|
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<span class="mim-text-font">
|
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<p>By radiation hybrid analysis, Nagase et al. (2000) mapped the MBD5 gene to chromosome 2. Wagenstaller et al. (2007) stated that the MBD5 gene maps to chromosome 2q23.1. </p>
|
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</span>
|
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
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|
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<span class="mim-text-font">
|
|
<p>By mutation analysis, Laget et al. (2010) showed that the MBD of MBD5 was required for its localization at chromocenters. Localization of MBD5 at chromocenters did not require the presence of methylated DNA, as MBD5 could bind DNA in cells that had lost methylation. In vitro analysis revealed that the MBD of MBD5 did not bind methylated DNA. </p><p>Using pull-down assays, Baymaz et al. (2014) showed that MBD5 and MBD6 (619458) interacted with human PR-DUB in a mutually exclusive manner. Mutation analysis revealed that interaction with the PR-DUB complex was through the highly homologous MBD of MBD5 and MBD6. Live-cell imaging showed that MBD6, but not MBD5, was recruited to sites of DNA damage, indicating that MBD5 and MBD6 had functional distinctions despite both binding to the PR-DUB complex. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Wagenstaller et al. (2007) identified a 200-kb deletion that removed 1 noncoding exon and the first 7 coding exons of the MBD5 gene (611472.0001) in a boy with intellectual developmental disorder (MRD1; 156200). The deletion was absent in parental DNA, and the remaining allele had a normal coding region. Wagenstaller et al. (2007) screened 415 DNAs from children with mental retardation and found 4 missense variants that were not present in 660 controls. No parental DNA was available to determine the origin of these mutations. Wagenstaller et al. (2007) stated that confirmation of the pathogenicity of these variants awaited screening of a panel enriched for epileptic seizures for which parental DNA was available. </p><p>From a large international multicenter collaboration, Talkowski et al. (2011) ascertained 65 patients with heterozygous deletion (63 cases) or translocation (2 cases) involving chromosome 2q23.1 (see 156200). The deletions ranged in size from 38 kb to greater than 19 Mb. The smallest region of overlap in all cases was confined to 1 gene, MBD5, and 14 (21.5%) of the 65 microdeletions and translocations were exclusively localized to MBD5, including several deletions that were restricted to noncoding regions and did not alter the protein sequence. The deletions or translocations were associated with haploinsufficiency of the MBD5 gene (22.5 to 55.4% of controls), as determined by mRNA expression analysis. Talkowski et al. (2011) also identified MBD5 deletions in approximately 0.18% of patients with autism spectrum disorders (see 156200) from 2 large cohorts (1,786 and 2,275 patients, respectively), whereas deletions at this locus were not found in 7,878 controls. Moreover, there was a significant association between a gly79-to-glu (G79E) missense variant in a highly conserved methyl-CpG-binding domain in 747 patients with autism spectrum disorder compared with 2,043 controls (odds ratio of 5.47, p = 0.012). Talkowski et al. (2011) noted that the MBD5 gene belongs to a family of genes involved in DNA methylation and/or chromatin remodeling, like MECP2 (300005), which is mutant or deleted in Rett syndrome (RTT; 312750), intellectual disabilities, and autism, providing further evidence that alterations of MBD5 may predispose to the risk of these neurodevelopmental disorders. </p><p>Carvill et al. (2013) identified a de novo heterozygous truncating mutation in the MBD5 gene (611472.0002) in a 20-year-old woman with severe mental retardation and epileptic encephalopathy. </p><p>In an 8-year-old Vietnamese boy with MRD1, Le and Ha (2021) identified a heterozygous splice site mutation in the MBD5 gene (611472.0004). The mutations was identified by next-generation sequencing and confirmed by Sanger sequencing. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MBD5, 200-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000000969
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with autosomal dominant intellectual developmental disorder (MRD1; 156200), Wagenstaller et al. (2007) identified a 200-kb deletion that removed 1 noncoding exon and the first 7 coding exons of the MBD5 gene. The deletion region was present in parental DNA but provided no information with regard to the origin of the deletion. In addition to mental retardation, the boy had a sandal gap between the first and second toe, but no facial dysmorphic features. He showed retarded motor development and had febrile seizures at age 8 months and seizures without fever starting at age 16 months. The boy was hypoactive, and social interactions were limited. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MBD5, THR157GLNFSTER4
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000054515
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 20-year-old woman (T1898) with autosomal dominant intellectual developmental disorder (MRD1; 156200), Carvill et al. (2013) identified a de novo heterozygous frameshift mutation in the MBD5 gene (NM_018328.4), resulting in premature termination (Thr157GlnfsTer4). The patient had delayed development and onset of tonic-clonic seizures at age 6 months. She later developed absence seizures, focal dyscognitive seizures, focal seizures, and tonic seizures associated with multiple EEG abnormalities, consistent with epileptic encephalopathy. The patient was part of a larger cohort of 500 patients with epileptic encephalopathies who underwent targeted sequencing of candidate genes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MBD5, 1-BP DEL, 150A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398122412,
|
|
|
|
|
|
|
|
ClinVar: RCV000074465
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old boy with autosomal dominant intellectual developmental disorder (MRD1; 156200), Kleefstra et al. (2012) identified a de novo heterozygous 1-bp deletion at position 150 of the MBD5 gene, resulting in a frameshift with premature termination 31 amino acids downstream (Thr52HisfsTer31). The patient had short stature, macrocephaly, mild intellectual disability, seizures, and sleep and behavioral problems. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MBD5, IVS6, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1707171202,
|
|
|
|
|
|
|
|
ClinVar: RCV001250386
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old Vietnamese boy with autosomal dominant intellectual developmental disorder (MRD1; 156200), Le and Ha (2021) identified a heterozygous c.217-1G-C transition (c.217-1G-C, NM_001378120.1) in intron 6 of the MBD5 gene, predicted to result in a splicing abnormality. The mutation, which was identified by next-generation sequencing and confirmed by Sanger sequencing, disrupted the intron 6 splice acceptor site and was predicted to result in absent or disrupted protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Baymaz, H. I., Fournier, A., Laget, S., Ji, Z., Jansen, P. W. T. C., Smits, A. H., Ferry, L., Mensinga, A., Poser, I., Sharrocks, A., Defossez, P.-A., Vermeulen, M.
|
|
<strong>MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.</strong>
|
|
Proteomics 14: 2179-2189, 2014.
|
|
|
|
|
|
[PubMed: 24634419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/pmic.201400013]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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.
|
|
|
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|
|
[PubMed: 23708187]
|
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|
|
[Full Text: https://doi.org/10.1038/ng.2646]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W., Fenckova, M., van den Akker, W. M. R., Nadif Kasri, N., Nillesen, W. M., Prescott, T., and 10 others.
|
|
<strong>Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.</strong>
|
|
Am. J. Hum. Genet. 91: 73-82, 2012.
|
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|
|
[PubMed: 22726846]
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2012.05.003]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laget, S., Joulie, M., Le Masson, F., Sasai, N., Christians, E., Pradhan, S., Roberts, R. J., Defossez, P.-A.
|
|
<strong>The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.</strong>
|
|
PLoS One 5: e11982, 2010.
|
|
|
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|
|
[PubMed: 20700456]
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|
|
[Full Text: https://doi.org/10.1371/journal.pone.0011982]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Le, T. N. U., Ha, T. M. T.
|
|
<strong>MBD5-related intellectual disability in a Vietnamese child.</strong>
|
|
Am. J. Med. Genet. 185A: 1321-1323, 2021.
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|
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|
|
[PubMed: 33427406]
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.62077]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 143-150, 2000.
|
|
|
|
|
|
[PubMed: 10819331]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/dnares/7.2.143]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., and 23 others.
|
|
<strong>Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.</strong>
|
|
Am. J. Hum. Genet. 89: 551-563, 2011.
|
|
|
|
|
|
[PubMed: 21981781]
|
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2011.09.011]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
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Wagenstaller, J., Spranger, S., Lorenz-Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Glaser, D., Liebscher, V., Meitinger, T., Strom, T. M.
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<strong>Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.</strong>
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Am. J. Hum. Genet. 81: 768-779, 2007.
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[PubMed: 17847001]
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[Full Text: https://doi.org/10.1086/521274]
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Hilary J. Vernon - updated : 10/28/2022<br>Bao Lige - updated : 07/23/2021<br>Ada Hamosh - updated : 11/26/2013<br>Cassandra L. Kniffin - updated : 8/15/2013<br>Cassandra L. Kniffin - updated : 10/24/2011<br>Victor A. McKusick - updated : 10/3/2007
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