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Entry
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- *611192 - ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11
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- OMIM
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<p>
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<span class="h4">*611192</span>
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<br />
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<strong>Table of Contents</strong>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611192">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 style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<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=ENSG00000167522;t=ENST00000301030" 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=29123" 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=611192" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000167522;t=ENST00000301030" 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_001256182,NM_001256183,NM_013275,NR_045839" 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_013275" 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=611192" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=12456&isoform_id=12456_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/ANKRD11" 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/6690397,32492942,34783699,38638917,42767029,46362467,56676397,62087952,119587135,119587136,119587137,119587138,158255424,211828076,296439440,371874306,371874367,440575733,608785147,921012510,921012532,1441404438" 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/Q6UB99" 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=29123" 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=ENSG00000167522;t=ENST00000301030" 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=ANKRD11" 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=ANKRD11" 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+29123" 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/ANKRD11" 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:29123" 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/29123" 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=chr16&hgg_gene=ENST00000301030.10&hgg_start=89267630&hgg_end=89490561&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21316" 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:21316" 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/ankrd11" 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=611192[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 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=611192[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/ANKRD11/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/ENSG00000167522" 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=ANKRD11" 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=ANKRD11" 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=ANKRD11" 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=ANKRD11&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/PA134861925" 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:21316" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1924337" 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/ANKRD11#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:1924337" 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/29123/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=29123" 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-030131-3932" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ANKRD11&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 711156009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611192
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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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ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11
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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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ANKYRIN REPEAT-CONTAINING COFACTOR 1; ANCO1<br />
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NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY PROTEIN<br />
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T13<br />
|
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LZ16
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ANKRD11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ANKRD11</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/16/744?start=-3&limit=10&highlight=744">16q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:89267630-89490561&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'})">16:89,267,630-89,490,561</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/744?start=-3&limit=10&highlight=744">
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16q24.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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KBG syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/148050"> 148050 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/611192" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611192" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<p>ANKRD11 is a member of a family of ankyrin repeat-containing cofactors that interacts with p160 nuclear receptor coactivators (see NCOA1; <a href="/entry/602691">602691</a>) and inhibits ligand-dependent transcriptional activation (<a href="#8" class="mim-tip-reference" title="Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D. <strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong> J. Biol. Chem. 279: 33799-33805, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>] [<a href="https://doi.org/10.1074/jbc.M403997200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184363">Zhang et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184363" 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>Using yeast 2-hybrid analysis with the conserved N-terminal basic helix-loop-helix (bHLH) domain of p160 nuclear receptor coactivator RAC3 (NCOA3; <a href="/entry/601937">601937</a>) as bait, <a href="#8" class="mim-tip-reference" title="Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D. <strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong> J. Biol. Chem. 279: 33799-33805, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>] [<a href="https://doi.org/10.1074/jbc.M403997200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184363">Zhang et al. (2004)</a> cloned ANKRD11, which they called ANCO1. The deduced 2,663-amino acid protein had a calculated molecular mass of 298 kD and contained five 33-amino acid ankyrin repeats, a highly charged central region, and many putative nuclear localization signals. <a href="#8" class="mim-tip-reference" title="Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D. <strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong> J. Biol. Chem. 279: 33799-33805, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>] [<a href="https://doi.org/10.1074/jbc.M403997200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184363">Zhang et al. (2004)</a> found that ANCO1 is identical to the previously isolated nasopharyngeal carcinoma susceptibility protein LZ16. Northern blot analysis detected a 10-kb transcript in many human tissues and cancer cell lines, with highest expression in skeletal muscle and chronic myeloid leukemia K562 cells. Smaller transcripts of 3.5 and 7.5 kb were detected. Immunofluorescence studies localized ANCO1 to discrete nuclear foci that colocalized with histone deacetylases HDAC3 (<a href="/entry/605166">605166</a>), HDAC4 (<a href="/entry/605314">605314</a>), and HDAC5 (<a href="/entry/605315">605315</a>) specifically. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184363" 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 nonquantitative RT-PCR, <a href="#6" class="mim-tip-reference" title="Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M. <strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong> Am. J. Hum. Genet. 89: 289-294, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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.2011.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21782149">Sirmaci et al. (2011)</a> confirmed expression of ANKRD11 in the human adult brain. Examination of transfected mouse neonatal cerebral cortical primary cultures using fluorescence microscopy revealed that ANKRD11 localized mainly to the nuclei of neurons and glial cells and only a relatively small amount was localized in the cytoplasm. Depolarization of the cells significantly induced nuclear accumulation of ANKRD11 in discrete inclusions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21782149" 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 genomic sequence analysis, <a href="#8" class="mim-tip-reference" title="Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D. <strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong> J. Biol. Chem. 279: 33799-33805, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>] [<a href="https://doi.org/10.1074/jbc.M403997200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184363">Zhang et al. (2004)</a> mapped the ANKRD11 gene to chromosome 16q24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184363" 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>Using yeast 2-hybrid and GST pull-down studies, <a href="#8" class="mim-tip-reference" title="Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D. <strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong> J. Biol. Chem. 279: 33799-33805, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>] [<a href="https://doi.org/10.1074/jbc.M403997200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184363">Zhang et al. (2004)</a> demonstrated that the C-terminal amino acids of ANCO1 (2597-2663) bound p160 nuclear coactivators RAC3, TIF2 (NCOA2; <a href="/entry/601993">601993</a>), and SRC1 (NCOA1; <a href="/entry/602691">602691</a>). By GST pull-down assay and coimmunoprecipitation studies, the authors showed that ANCO1 bound histone deacetylases HDAC3, HDAC4, and HDAC5 via an HDAC binding domain distinct from the ANCO1 p160 coactivator binding domain. Overexpression of ANCO1 inhibited transcriptional activation by nuclear receptors, including the mineralocorticoid (NR3C2; <a href="/entry/600983">600983</a>), androgen (AR; <a href="/entry/313700">313700</a>), progesterone (PGR; <a href="/entry/607311">607311</a>), and glucocorticoid (GCCR; <a href="/entry/138040">138040</a>) receptors. The results of competition studies with ANCO1 and p160 coactivator TIF2 suggested to <a href="#8" class="mim-tip-reference" title="Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D. <strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong> J. Biol. Chem. 279: 33799-33805, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>] [<a href="https://doi.org/10.1074/jbc.M403997200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184363">Zhang et al. (2004)</a> that ANCO1 inhibits ligand-dependent transactivation by recruiting HDACs to the coactivator/nuclear receptor complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184363" 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 Turkish family with macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies (KBG syndrome, KBGS; <a href="/entry/148050">148050</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Tekin, M., Kavaz, A., Berberoglu, M., Fitoz, S., Ekim, M., Ocal, G., Akar, N. <strong>The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.</strong> Am. J. Med. Genet. 130A: 284-287, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378538</a>] [<a href="https://doi.org/10.1002/ajmg.a.30291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378538">Tekin et al. (2004)</a>, <a href="#6" class="mim-tip-reference" title="Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M. <strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong> Am. J. Hum. Genet. 89: 289-294, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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.2011.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21782149">Sirmaci et al. (2011)</a> performed whole-exome capture followed by next-generation sequencing and identified a heterozygous splice site variant in the ANKRD11 gene (<a href="#0001">611192.0001</a>) that segregated with disease and was not found in ethnically matched controls. Analysis of ANKRD11 in 9 additional KBGS probands revealed heterozygosity for truncating mutations in 4 of them (see, e.g., <a href="#0002">611192.0002</a> and <a href="#0003">611192.0003</a>). All 5 mutations involved the highly conserved C-terminal repression domain of ANKRD11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21782149+15378538" 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="#1" class="mim-tip-reference" title="Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, S., Hennekam, R. C. M., Lampe, A. K., and 63 others. <strong>Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.</strong> J. Med. Genet. 51: 659-668, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25125236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25125236</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25125236[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/10.1136/jmedgenet-2014-102573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25125236">Ansari et al. (2014)</a> identified 2 different de novo heterozygous truncating mutations in the ANKRD11 gene (see, e.g., <a href="#0004">611192.0004</a>) in 2 unrelated patients with KBG syndrome. A third unrelated patient had an intragenic deletion in the ANKRD11 gene. The patients were ascertained from a larger cohort of patients with features consistent with Cornelia de Lange syndrome (see, e.g., CDLS1, <a href="/entry/122470">122470</a>), thus showing phenotypic overlap between the 2 disorders. All had normal head circumference; detailed clinical features were not provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25125236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gnazzo, M., Lepri, F. R., Dentici, M. L., Capolino, R., Pisaneschi, E., Agolini, E., Rinelli, M., Alesi, V., Versacci, P., Genovese, S., Cesario, C., Sinibaldi, L., Baban, A., Bartuli, A., Marino, B., Cappa, M., Dallapiccola, B., Novelli, A., Digilio, M. C. <strong>KBG syndrome: Common and uncommon clinical features based on 31 new patients.</strong> Am. J. Med. Genet. 182A: 1073-1083, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32124548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32124548</a>] [<a href="https://doi.org/10.1002/ajmg.a.61524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32124548">Gnazzo et al. (2020)</a> reported 31 patients (18 females and 13 males) with a heterozygous pathogenic variant in the ANKRD11 gene (28 patients) or a 16q24 deletion encompassing the ANKRD11 gene (3 patients) seen at a single hospital in Italy. All mutations affected the C-terminal region at exon 9 of ANKRD11, including 17 frameshift and 11 nonsense mutations. Testing was done on both parents in 18 patients; 16 ANKRD11 variants were found to be de novo and 2 were inherited from affected mothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32124548" 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>By exome sequencing in a boy with features of KBG syndrome, <a href="#4" class="mim-tip-reference" title="Geckinli, B. B., Alavanda, C., Arslan Ates, E., Yildirim, O., Arman, A. <strong>Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.</strong> Clin. Dysmorph. 31: 153-156, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394473</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35394473">Geckinli et al. (2022)</a> identified a de novo heterozygous missense mutation in the AKRD11 gene (R1475S; <a href="#0005">611192.0005</a>). The mutation was not present in the proband's unaffected, first-cousin parents or in his sister, who had seizures but no other findings of KBG syndrome. The variant was not present in public variant databases, including ExAC, gnomAD, and 1000 Genomes Project. The authors stated that the variant was classified as a variant of unknown significance by ACMG criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394473" 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 study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#3" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human ANKRD11 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="/allelicVariants/611192" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611192[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863223319 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223319;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=rs863223319" 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=rs863223319" 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=RCV000023875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023875</a>
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<p>In a father and 2 sons from a Turkish family with KBG syndrome (KBGS; <a href="/entry/148050">148050</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Tekin, M., Kavaz, A., Berberoglu, M., Fitoz, S., Ekim, M., Ocal, G., Akar, N. <strong>The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.</strong> Am. J. Med. Genet. 130A: 284-287, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378538</a>] [<a href="https://doi.org/10.1002/ajmg.a.30291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378538">Tekin et al. (2004)</a>, <a href="#6" class="mim-tip-reference" title="Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M. <strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong> Am. J. Hum. Genet. 89: 289-294, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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.2011.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21782149">Sirmaci et al. (2011)</a> identified heterozygosity for a G-C transversion at the splice acceptor site (7570-1G-C) in intron 10 of the ANKRD11 gene, resulting in the deletion of 2 residues located in the highly conserved C-terminal repression domain (Glu2524_Lys2525del). The mutation was not found in the unaffected mother or in 339 Turkish controls. The 46-year-old father, who was the oldest affected individual studied by <a href="#6" class="mim-tip-reference" title="Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M. <strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong> Am. J. Hum. Genet. 89: 289-294, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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.2011.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21782149">Sirmaci et al. (2011)</a>, had developed moderate kyphosis and osteopenia with age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21782149+15378538" 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">rs863223320 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223320;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=rs863223320" 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=rs863223320" 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=RCV000023876" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023876" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023876</a>
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<p>In a 16-year-old Turkish boy with KBG syndrome (KBGS; <a href="/entry/148050">148050</a>), <a href="#6" class="mim-tip-reference" title="Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M. <strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong> Am. J. Hum. Genet. 89: 289-294, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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.2011.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21782149">Sirmaci et al. (2011)</a> identified heterozygosity for a de novo 1-bp deletion (2305delT) in exon 9 of the ANKRD11 gene, causing a frameshift predicted to result in a premature termination codon (Ser769GlnfsTer8). The mutation was not found in his unaffected parents or in 255 Turkish controls. Real-time PCR analysis of peripheral blood RNA from the patient demonstrated reduction of ANKRD11 expression compared to his father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21782149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 KBG SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863223321 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223321;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=rs863223321" 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=rs863223321" 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=RCV000023877" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023877" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023877</a>
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<p>In a 21-year-old Italian man with KBG syndrome (KBGS; <a href="/entry/148050">148050</a>), originally reported by <a href="#2" class="mim-tip-reference" title="Brancati, F., D'Avanzo, M. G., Digilio, M. C., Sarkozy, A., Biondi, M., De Brasi, D., Mingarelli, R., Dallapiccola, B. <strong>KBG syndrome in a cohort of Italian patients.</strong> Am. J. Med. Genet. 131A: 144-149, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523620</a>] [<a href="https://doi.org/10.1002/ajmg.a.30292" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523620">Brancati et al. (2004)</a>, <a href="#6" class="mim-tip-reference" title="Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M. <strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong> Am. J. Hum. Genet. 89: 289-294, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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.2011.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21782149">Sirmaci et al. (2011)</a> identified heterozygosity for a de novo 2-bp deletion (5953_5954delCA) in exon 9 of the ANKRD11 gene, causing a frameshift predicted to result in a premature termination codon (Gln1985GlufsTer46). The mutation was not found in his unaffected parents or in 40 Italian controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15523620+21782149" 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">rs863225257 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225257;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=rs863225257" 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=rs863225257" 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=RCV000201845" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201845" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201845</a>
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<p>In a girl with KBG syndrome (KBGS; <a href="/entry/148050">148050</a>), <a href="#1" class="mim-tip-reference" title="Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, S., Hennekam, R. C. M., Lampe, A. K., and 63 others. <strong>Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.</strong> J. Med. Genet. 51: 659-668, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25125236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25125236</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25125236[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/10.1136/jmedgenet-2014-102573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25125236">Ansari et al. (2014)</a> identified a de novo heterozygous 2-bp deletion (c.6210_6211del) in exon 7 of the ANKRD11 gene, resulting in a frameshift and premature termination (Lys2070AsnfsTer31). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The patient was ascertained from a larger cohort of patients with features consistent with Cornelia de Lange syndrome (see, e.g., CDLS1, <a href="/entry/122470">122470</a>), thus showing phenotypic overlap between the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25125236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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ANKRD11, ARG1475SER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002463379" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002463379" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002463379</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to KBG syndrome (KBGS; <a href="/entry/148050">148050</a>) has not been confirmed.</p><p>In a boy with KBG syndrome, <a href="#4" class="mim-tip-reference" title="Geckinli, B. B., Alavanda, C., Arslan Ates, E., Yildirim, O., Arman, A. <strong>Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.</strong> Clin. Dysmorph. 31: 153-156, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394473</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35394473">Geckinli et al. (2022)</a> identified a de novo heterozygous c.4425G-T transversion (c.4425G-T, NM_001256182) in exon 10 of the ANKRD11 gene, resulting in an arg1475-to-ser (R1475S) substitution. The variant was not found in public population databases, including ExAC, gnomAD, and 1000 Genomes Project. The variant was not present in the proband's unaffected, first-cousin parents or in his sister, who also had seizures but no other features of KBG syndrome. The authors stated that the variant was classified as a variant of unknown significance by ACMG criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Ansari2014" class="mim-anchor"></a>
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Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, S., Hennekam, R. C. M., Lampe, A. K., and 63 others.
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<strong>Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.</strong>
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J. Med. Genet. 51: 659-668, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25125236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25125236</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25125236[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=25125236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2014-102573" target="_blank">Full Text</a>]
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Brancati, F., D'Avanzo, M. G., Digilio, M. C., Sarkozy, A., Biondi, M., De Brasi, D., Mingarelli, R., Dallapiccola, B.
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<strong>KBG syndrome in a cohort of Italian patients.</strong>
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Am. J. Med. Genet. 131A: 144-149, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523620" 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.30292" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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=27626380" 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/nature19356" target="_blank">Full Text</a>]
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Geckinli, B. B., Alavanda, C., Arslan Ates, E., Yildirim, O., Arman, A.
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<strong>Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.</strong>
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Clin. Dysmorph. 31: 153-156, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35394473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35394473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35394473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0000000000000421" target="_blank">Full Text</a>]
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<a id="Gnazzo2020" class="mim-anchor"></a>
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Gnazzo, M., Lepri, F. R., Dentici, M. L., Capolino, R., Pisaneschi, E., Agolini, E., Rinelli, M., Alesi, V., Versacci, P., Genovese, S., Cesario, C., Sinibaldi, L., Baban, A., Bartuli, A., Marino, B., Cappa, M., Dallapiccola, B., Novelli, A., Digilio, M. C.
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<strong>KBG syndrome: Common and uncommon clinical features based on 31 new patients.</strong>
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Am. J. Med. Genet. 182A: 1073-1083, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32124548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32124548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32124548" 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.61524" target="_blank">Full Text</a>]
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Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M.
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<strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong>
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Am. J. Hum. Genet. 89: 289-294, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21782149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21782149</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21782149[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=21782149" 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.2011.06.007" target="_blank">Full Text</a>]
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Tekin, M., Kavaz, A., Berberoglu, M., Fitoz, S., Ekim, M., Ocal, G., Akar, N.
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<strong>The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.</strong>
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Am. J. Med. Genet. 130A: 284-287, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378538" 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.30291" target="_blank">Full Text</a>]
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Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D.
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<strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong>
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J. Biol. Chem. 279: 33799-33805, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sonja A. Rasmussen - updated : 11/29/2022
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Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 11/3/2015<br>Marla J. F. O'Neill - updated : 9/12/2011
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carol : 02/06/2018<br>alopez : 02/16/2017<br>carol : 11/09/2015<br>ckniffin : 11/3/2015<br>carol : 9/13/2011<br>terry : 9/12/2011<br>alopez : 7/10/2007
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611192
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11
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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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<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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ANKYRIN REPEAT-CONTAINING COFACTOR 1; ANCO1<br />
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NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY PROTEIN<br />
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T13<br />
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LZ16
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ANKRD11</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 711156009;
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</span>
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</p>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:89,267,630-89,490,561 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16q24.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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KBG syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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148050
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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>ANKRD11 is a member of a family of ankyrin repeat-containing cofactors that interacts with p160 nuclear receptor coactivators (see NCOA1; 602691) and inhibits ligand-dependent transcriptional activation (Zhang et al., 2004). </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>Using yeast 2-hybrid analysis with the conserved N-terminal basic helix-loop-helix (bHLH) domain of p160 nuclear receptor coactivator RAC3 (NCOA3; 601937) as bait, Zhang et al. (2004) cloned ANKRD11, which they called ANCO1. The deduced 2,663-amino acid protein had a calculated molecular mass of 298 kD and contained five 33-amino acid ankyrin repeats, a highly charged central region, and many putative nuclear localization signals. Zhang et al. (2004) found that ANCO1 is identical to the previously isolated nasopharyngeal carcinoma susceptibility protein LZ16. Northern blot analysis detected a 10-kb transcript in many human tissues and cancer cell lines, with highest expression in skeletal muscle and chronic myeloid leukemia K562 cells. Smaller transcripts of 3.5 and 7.5 kb were detected. Immunofluorescence studies localized ANCO1 to discrete nuclear foci that colocalized with histone deacetylases HDAC3 (605166), HDAC4 (605314), and HDAC5 (605315) specifically. </p><p>Using nonquantitative RT-PCR, Sirmaci et al. (2011) confirmed expression of ANKRD11 in the human adult brain. Examination of transfected mouse neonatal cerebral cortical primary cultures using fluorescence microscopy revealed that ANKRD11 localized mainly to the nuclei of neurons and glial cells and only a relatively small amount was localized in the cytoplasm. Depolarization of the cells significantly induced nuclear accumulation of ANKRD11 in discrete inclusions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Zhang et al. (2004) mapped the ANKRD11 gene to chromosome 16q24.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using yeast 2-hybrid and GST pull-down studies, Zhang et al. (2004) demonstrated that the C-terminal amino acids of ANCO1 (2597-2663) bound p160 nuclear coactivators RAC3, TIF2 (NCOA2; 601993), and SRC1 (NCOA1; 602691). By GST pull-down assay and coimmunoprecipitation studies, the authors showed that ANCO1 bound histone deacetylases HDAC3, HDAC4, and HDAC5 via an HDAC binding domain distinct from the ANCO1 p160 coactivator binding domain. Overexpression of ANCO1 inhibited transcriptional activation by nuclear receptors, including the mineralocorticoid (NR3C2; 600983), androgen (AR; 313700), progesterone (PGR; 607311), and glucocorticoid (GCCR; 138040) receptors. The results of competition studies with ANCO1 and p160 coactivator TIF2 suggested to Zhang et al. (2004) that ANCO1 inhibits ligand-dependent transactivation by recruiting HDACs to the coactivator/nuclear receptor complex. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a Turkish family with macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies (KBG syndrome, KBGS; 148050), originally reported by Tekin et al. (2004), Sirmaci et al. (2011) performed whole-exome capture followed by next-generation sequencing and identified a heterozygous splice site variant in the ANKRD11 gene (611192.0001) that segregated with disease and was not found in ethnically matched controls. Analysis of ANKRD11 in 9 additional KBGS probands revealed heterozygosity for truncating mutations in 4 of them (see, e.g., 611192.0002 and 611192.0003). All 5 mutations involved the highly conserved C-terminal repression domain of ANKRD11. </p><p>Ansari et al. (2014) identified 2 different de novo heterozygous truncating mutations in the ANKRD11 gene (see, e.g., 611192.0004) in 2 unrelated patients with KBG syndrome. A third unrelated patient had an intragenic deletion in the ANKRD11 gene. The patients were ascertained from a larger cohort of patients with features consistent with Cornelia de Lange syndrome (see, e.g., CDLS1, 122470), thus showing phenotypic overlap between the 2 disorders. All had normal head circumference; detailed clinical features were not provided. </p><p>Gnazzo et al. (2020) reported 31 patients (18 females and 13 males) with a heterozygous pathogenic variant in the ANKRD11 gene (28 patients) or a 16q24 deletion encompassing the ANKRD11 gene (3 patients) seen at a single hospital in Italy. All mutations affected the C-terminal region at exon 9 of ANKRD11, including 17 frameshift and 11 nonsense mutations. Testing was done on both parents in 18 patients; 16 ANKRD11 variants were found to be de novo and 2 were inherited from affected mothers. </p><p>By exome sequencing in a boy with features of KBG syndrome, Geckinli et al. (2022) identified a de novo heterozygous missense mutation in the AKRD11 gene (R1475S; 611192.0005). The mutation was not present in the proband's unaffected, first-cousin parents or in his sister, who had seizures but no other findings of KBG syndrome. The variant was not present in public variant databases, including ExAC, gnomAD, and 1000 Genomes Project. The authors stated that the variant was classified as a variant of unknown significance by ACMG criteria. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human ANKRD11 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>5 Selected Examples):</strong>
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</span>
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</h4>
|
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<div>
|
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 KBG SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ANKRD11, IVS10AS, G-C, -1
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<br />
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SNP: rs863223319,
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ClinVar: RCV000023875
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a father and 2 sons from a Turkish family with KBG syndrome (KBGS; 148050), originally reported by Tekin et al. (2004), Sirmaci et al. (2011) identified heterozygosity for a G-C transversion at the splice acceptor site (7570-1G-C) in intron 10 of the ANKRD11 gene, resulting in the deletion of 2 residues located in the highly conserved C-terminal repression domain (Glu2524_Lys2525del). The mutation was not found in the unaffected mother or in 339 Turkish controls. The 46-year-old father, who was the oldest affected individual studied by Sirmaci et al. (2011), had developed moderate kyphosis and osteopenia with age. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 KBG SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ANKRD11, 1-BP DEL, 2305T
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<br />
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SNP: rs863223320,
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ClinVar: RCV000023876
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a 16-year-old Turkish boy with KBG syndrome (KBGS; 148050), Sirmaci et al. (2011) identified heterozygosity for a de novo 1-bp deletion (2305delT) in exon 9 of the ANKRD11 gene, causing a frameshift predicted to result in a premature termination codon (Ser769GlnfsTer8). The mutation was not found in his unaffected parents or in 255 Turkish controls. Real-time PCR analysis of peripheral blood RNA from the patient demonstrated reduction of ANKRD11 expression compared to his father. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 KBG SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ANKRD11, 2-BP DEL, 5953CA
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<br />
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SNP: rs863223321,
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ClinVar: RCV000023877
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 21-year-old Italian man with KBG syndrome (KBGS; 148050), originally reported by Brancati et al. (2004), Sirmaci et al. (2011) identified heterozygosity for a de novo 2-bp deletion (5953_5954delCA) in exon 9 of the ANKRD11 gene, causing a frameshift predicted to result in a premature termination codon (Gln1985GlufsTer46). The mutation was not found in his unaffected parents or in 40 Italian controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 KBG SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ANKRD11, 2-BP DEL, NT6210
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<br />
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SNP: rs863225257,
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ClinVar: RCV000201845
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a girl with KBG syndrome (KBGS; 148050), Ansari et al. (2014) identified a de novo heterozygous 2-bp deletion (c.6210_6211del) in exon 7 of the ANKRD11 gene, resulting in a frameshift and premature termination (Lys2070AsnfsTer31). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The patient was ascertained from a larger cohort of patients with features consistent with Cornelia de Lange syndrome (see, e.g., CDLS1, 122470), thus showing phenotypic overlap between the 2 disorders. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ANKRD11, ARG1475SER
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<br />
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ClinVar: RCV002463379
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>This variant is classified as a variant of unknown significance because its contribution to KBG syndrome (KBGS; 148050) has not been confirmed.</p><p>In a boy with KBG syndrome, Geckinli et al. (2022) identified a de novo heterozygous c.4425G-T transversion (c.4425G-T, NM_001256182) in exon 10 of the ANKRD11 gene, resulting in an arg1475-to-ser (R1475S) substitution. The variant was not found in public population databases, including ExAC, gnomAD, and 1000 Genomes Project. The variant was not present in the proband's unaffected, first-cousin parents or in his sister, who also had seizures but no other features of KBG syndrome. The authors stated that the variant was classified as a variant of unknown significance by ACMG criteria. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
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Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, S., Hennekam, R. C. M., Lampe, A. K., and 63 others.
|
|
<strong>Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.</strong>
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J. Med. Genet. 51: 659-668, 2014.
|
|
|
|
|
|
[PubMed: 25125236]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2014-102573]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brancati, F., D'Avanzo, M. G., Digilio, M. C., Sarkozy, A., Biondi, M., De Brasi, D., Mingarelli, R., Dallapiccola, B.
|
|
<strong>KBG syndrome in a cohort of Italian patients.</strong>
|
|
Am. J. Med. Genet. 131A: 144-149, 2004.
|
|
|
|
|
|
[PubMed: 15523620]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30292]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
|
|
|
|
|
[PubMed: 27626380]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature19356]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Geckinli, B. B., Alavanda, C., Arslan Ates, E., Yildirim, O., Arman, A.
|
|
<strong>Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.</strong>
|
|
Clin. Dysmorph. 31: 153-156, 2022.
|
|
|
|
|
|
[PubMed: 35394473]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MCD.0000000000000421]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gnazzo, M., Lepri, F. R., Dentici, M. L., Capolino, R., Pisaneschi, E., Agolini, E., Rinelli, M., Alesi, V., Versacci, P., Genovese, S., Cesario, C., Sinibaldi, L., Baban, A., Bartuli, A., Marino, B., Cappa, M., Dallapiccola, B., Novelli, A., Digilio, M. C.
|
|
<strong>KBG syndrome: Common and uncommon clinical features based on 31 new patients.</strong>
|
|
Am. J. Med. Genet. 182A: 1073-1083, 2020.
|
|
|
|
|
|
[PubMed: 32124548]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.61524]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S., Tekin, M.
|
|
<strong>Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.</strong>
|
|
Am. J. Hum. Genet. 89: 289-294, 2011.
|
|
|
|
|
|
[PubMed: 21782149]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2011.06.007]
|
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|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Tekin, M., Kavaz, A., Berberoglu, M., Fitoz, S., Ekim, M., Ocal, G., Akar, N.
|
|
<strong>The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.</strong>
|
|
Am. J. Med. Genet. 130A: 284-287, 2004.
|
|
|
|
|
|
[PubMed: 15378538]
|
|
|
|
|
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[Full Text: https://doi.org/10.1002/ajmg.a.30291]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhang, A., Yeung, P. L., Li, C.-W., Tsai, S.-C., Dinh, G. K., Wu, X., Li, H., Chen, J. D.
|
|
<strong>Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.</strong>
|
|
J. Biol. Chem. 279: 33799-33805, 2004.
|
|
|
|
|
|
[PubMed: 15184363]
|
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|
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[Full Text: https://doi.org/10.1074/jbc.M403997200]
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