4298 lines
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Entry
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- *114020 - CADHERIN 2; CDH2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*114020</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFamily">Gene Family</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/114020">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000170558;t=ENST00000269141" 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=1000" 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=114020" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000170558;t=ENST00000269141" 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_001308176,NM_001792,XM_011525788,XM_017025514" 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_001792" 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=114020" 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=00226&isoform_id=00226_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/CDH2" 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/34999,253483,416293,806346,1335229,14589889,22209070,116241277,119621644,119621645,119621646,167887532,221044274,346447494,353247982,767998124,815890961,1034603319,2462559475" 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/P19022" 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=1000" 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=ENSG00000170558;t=ENST00000269141" 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=CDH2" 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=CDH2" 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+1000" 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/CDH2" 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:1000" 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/1000" 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=chr18&hgg_gene=ENST00000269141.8&hgg_start=27932879&hgg_end=28177130&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1759" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=114020[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=114020[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/CDH2/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/ENSG00000170558" 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=CDH2" 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=CDH2" 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=CDH2" 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=CDH2&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/PA26293" 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:1759" 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:88355" 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/CDH2#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:88355" 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/1000/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=1000" 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-990415-171" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1000" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CDH2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
114020
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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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CADHERIN 2; CDH2
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CADHERIN, NEURONAL<br />
|
|
N-CADHERIN; NCAD<br />
|
|
CALCIUM-DEPENDENT ADHESION PROTEIN, NEURONAL; CDHN
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CDH2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CDH2</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/18/111?start=-3&limit=10&highlight=111">18q12.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:27932879-28177130&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'})">18:27,932,879-28,177,130</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619957,618929,618920" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/111?start=-3&limit=10&highlight=111">
|
|
18q12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Attention deficit-hyperactivity disorder 8
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619957"> 619957 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
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|
|
|
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|
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</tr>
|
|
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|
|
|
|
|
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618929"> 618929 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Arrhythmogenic right ventricular dysplasia 14
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618920"> 618920 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
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<p>The CDH2 gene encodes N (neuronal)-cadherin, which has an essential role in the early steps of brain morphogenesis (summary by <a href="#5" class="mim-tip-reference" title="Halperin, D., Stavsky, A., Kadir, R., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Proskorovski-Ohayon, R., Perez, Y., Nudelman, H., Stoler, O., Rotblat, B., Lifschytz, T., Lotan, A., Meiri, G., Gitler, D., Birk, O. S. <strong>CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.</strong> Nature Commun. 12: 6187, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34702855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34702855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34702855[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/s41467-021-26426-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34702855">Halperin et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34702855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Reid, R. A., Hemperly, J. J. <strong>Human N-cadherin: nucleotide and deduced amino acid sequence.</strong> Nucleic Acids Res. 18: 5896 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2216790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2216790</a>] [<a href="https://doi.org/10.1093/nar/18.19.5896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2216790">Reid and Hemperly (1990)</a> obtained a full-length NCAD clone from a Kelly neuroblastoma library. The NCAD gene encodes a 907-amino acid protein that includes a 159-amino acid signal sequence. Human and mouse nucleotide sequences are 96% identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2216790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Miyatani, S., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Takeichi, M. <strong>Genomic structure and chromosomal mapping of the mouse N-cadherin gene.</strong> Proc. Nat. Acad. Sci. 89: 8443-8447, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528849</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528849">Miyatani et al. (1992)</a> showed that the mouse Ncad gene contains 16 exons dispersed over more than 200 kb of genomic DNA. The large size of the N-cadherin gene, compared with its cDNA (4.3 kb), was ascribed to the fact that the first and second introns are 34.2 kb and more than 100 kb long, respectively. <a href="#9" class="mim-tip-reference" title="Miyatani, S., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Takeichi, M. <strong>Genomic structure and chromosomal mapping of the mouse N-cadherin gene.</strong> Proc. Nat. Acad. Sci. 89: 8443-8447, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528849</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528849">Miyatani et al. (1992)</a> compared the NCAD, liver cell adhesion molecule (LCAM; see <a href="/entry/192090">192090</a>), and PCAD (CDH3) genes and showed that the exon-intron boundaries are fully conserved between them, except that the first exon of P-cadherin includes the first and second exons of the other 2 genes. Also, the second intron, which is equivalent to the first intron in P-cadherin, is exceptionally large and this structural feature is conserved in all 3 of these genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528849" 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="#20" class="mim-tip-reference" title="Wallis, J., Fox, M. F., Walsh, F. S. <strong>Structure of the human N-cadherin gene: YAC analysis and fine chromosomal mapping to 18q11.2.</strong> Genomics 22: 172-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959764</a>] [<a href="https://doi.org/10.1006/geno.1994.1358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959764">Wallis et al. (1994)</a> demonstrated that the human N-cadherin gene contains 16 exons and its sequence is highly similar to both the mouse NCAD gene (including the large first and second introns) and other cadherin genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959764" 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 Southern analysis of a panel of somatic cell hybrids, <a href="#21" class="mim-tip-reference" title="Walsh, F. S., Barton, C. H., Putt, W., Moore, S. E., Kelsell, D., Spurr, N., Goodfellow, P. N. <strong>N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene.</strong> J. Neurochem. 55: 805-812, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2384753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2384753</a>] [<a href="https://doi.org/10.1111/j.1471-4159.1990.tb04563.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2384753">Walsh et al. (1990)</a> mapped the NCAD gene to chromosome 18. By interspecific backcross analysis, <a href="#9" class="mim-tip-reference" title="Miyatani, S., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Takeichi, M. <strong>Genomic structure and chromosomal mapping of the mouse N-cadherin gene.</strong> Proc. Nat. Acad. Sci. 89: 8443-8447, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528849</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528849">Miyatani et al. (1992)</a> found that the gene in the mouse is located in the proximal region of chromosome 18. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1528849+2384753" 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 in situ hybridization, <a href="#20" class="mim-tip-reference" title="Wallis, J., Fox, M. F., Walsh, F. S. <strong>Structure of the human N-cadherin gene: YAC analysis and fine chromosomal mapping to 18q11.2.</strong> Genomics 22: 172-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959764</a>] [<a href="https://doi.org/10.1006/geno.1994.1358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959764">Wallis et al. (1994)</a> refined the map position of N-cadherin to 18q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 06/23/2020."None>Stumpf (2020)</a> mapped the CDH2 gene to chromosome 18q12.1 based on an alignment of the CDH2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC036470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC036470</a>) with the genomic sequence (GRCh38).</p>
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<p>The cadherin gene family encode proteins that mediate calcium-ion-dependent adhesion (<a href="#15" class="mim-tip-reference" title="Takeichi, M. <strong>Cadherins: a molecular family essential for selective cell-cell adhesion and animal morphogenesis.</strong> Trends Genet. 3: 213-217, 1987."None>Takeichi, 1987</a>). Three members of this family are E-cadherin, N-cadherin, and P-cadherin. E-cadherin appears to be identical to the protein called uvomorulin. N-cadherin is expressed in the brain and skeletal and cardiac muscle.</p>
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<p><a href="#7" class="mim-tip-reference" title="Hermiston, M. L., Gordon, J. I. <strong>Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin.</strong> Science 270: 1203-1206, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7502046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7502046</a>] [<a href="https://doi.org/10.1126/science.270.5239.1203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7502046">Hermiston and Gordon (1995)</a> noted that the mouse intestinal epithelium expresses a sequence of 'developmental events'--proliferation, lineage allocation, migration, differentiation, and death--throughout life. Proliferation is confined to the crypts of Lieberkuhn. The crypt's multipotent stem cell gives rise to enterocytes, mucus-producing goblet cells, enteroendocrine cells, and Paneth cells. Cells of these 4 lineages differentiate during an orderly migration and are frequently eliminated by apoptosis and exfoliation or phagocytosis. Renewal is rapid (3 to 20 days). Results from cell culture studies indicate that cadherin-catenin complexes regulate cell polarity, formation of junctional complexes, migration, and proliferation. <a href="#7" class="mim-tip-reference" title="Hermiston, M. L., Gordon, J. I. <strong>Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin.</strong> Science 270: 1203-1206, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7502046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7502046</a>] [<a href="https://doi.org/10.1126/science.270.5239.1203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7502046">Hermiston and Gordon (1995)</a> transfected embryonic stem cells with a dominant-negative N-cadherin mutant under the control of promoters active in small intestinal epithelial cells and introduced them into C57BL/6 blastocysts. Analysis of adult chimeric mice revealed that expression of the mutant along the entire crypt-villus axis, but not in the villus epithelium alone, produced an inflammatory bowel disease resembling Crohn disease (see <a href="/entry/266600">266600</a>). The mutation perturbed proliferation, migration, and death patterns in crypts, leading to adenomas. The model provided insights into cadherin function in an adult organ and the factors underlying inflammatory bowel disease and intestinal neoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7502046" 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>Within the bilaterally symmetric vertebrate body plan, many organs develop asymmetrically. <a href="#4" class="mim-tip-reference" title="Garcia-Castro, M. I., Vielmetter, E., Bronner-Fraser, M. <strong>N-cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry.</strong> Science 288: 1047-1051, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807574</a>] [<a href="https://doi.org/10.1126/science.288.5468.1047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10807574">Garcia-Castro et al. (2000)</a> demonstrated that the cell adhesion molecule N-cadherin is one of the earliest proteins to be asymmetrically expressed in the chicken embryo and that its activity is required during gastrulation for proper establishment of the left-right axis. Blocking N-cadherin function randomizes heart looping and alters the expression of Snail (<a href="/entry/604238">604238</a>) and Pitx2 (<a href="/entry/601542">601542</a>), later components of the molecular cascade that regulates left-right asymmetry. However, the expression of other components of this cascade, Nodal (<a href="/entry/601265">601265</a>) and Lefty (see <a href="/entry/601877">601877</a>), was unchanged after blocking N-cadherin function, suggesting the existence of parallel pathways in the establishment of left-right morphogenesis. <a href="#4" class="mim-tip-reference" title="Garcia-Castro, M. I., Vielmetter, E., Bronner-Fraser, M. <strong>N-cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry.</strong> Science 288: 1047-1051, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807574</a>] [<a href="https://doi.org/10.1126/science.288.5468.1047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10807574">Garcia-Castro et al. (2000)</a> concluded that their results suggest that N-cadherin-mediated cell adhesion events are required for establishment of left-right asymmetry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10807574" 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>At certain central nervous system synapses, pre- to postsynaptic adhesion is mediated at least in part by CDH2. <a href="#16" class="mim-tip-reference" title="Tanaka, H., Shan, W., Phillips, G. R., Arndt, K., Bozdagi, O., Shapiro, L., Huntley, G. W., Benson, D. L., Colman, D. R. <strong>Molecular modification of N-cadherin in response to synaptic activity.</strong> Neuron 25: 93-107, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10707975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10707975</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80874-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10707975">Tanaka et al. (2000)</a> demonstrated that upon depolarization of cultured hippocampal neurons by potassium treatment, or the application of N-methyl-D-aspartate or alpha-latrotoxin, synaptic CDH2 dimerizes and becomes markedly protease resistant. The resistance persisted for at least 2 hours while other surface molecules, including other cadherins, were completely degraded. The acquisition of protease resistance and dimerization of CDH2 was not dependent on new protein synthesis. <a href="#16" class="mim-tip-reference" title="Tanaka, H., Shan, W., Phillips, G. R., Arndt, K., Bozdagi, O., Shapiro, L., Huntley, G. W., Benson, D. L., Colman, D. R. <strong>Molecular modification of N-cadherin in response to synaptic activity.</strong> Neuron 25: 93-107, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10707975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10707975</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80874-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10707975">Tanaka et al. (2000)</a> concluded that synaptic adhesion is dynamically and locally controlled and is modulated by synaptic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10707975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Arregui, C., Pathre, P., Lilien, J., Balsamo, J. <strong>The nonreceptor tyrosine kinase Fer mediates cross-talk between N-cadherin and beta-1-integrins.</strong> J. Cell Biol. 149: 1263-1273, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851023</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10851023[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/10.1083/jcb.149.6.1263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851023">Arregui et al. (2000)</a> demonstrated that cell-permeable (Trojan) peptides containing the third helix of the antennapedia homeodomain fused to a peptide mimicking the juxtamembrane (JMP) region of the cytoplasmic domain of CDH2 result in the inhibition of both CDH2 and beta-1 integrin (ITGB1; <a href="/entry/135630">135630</a>) function. Microscopic analysis showed that expression of JMP, which binds to the cytoplasmic domain of CDH2, results in a reduction of neurite outgrowth on cadherin substrates. Treatment of cells with JMP resulted in the release of FER (<a href="/entry/176942">176942</a>) from the cadherin complex and its accumulation in the integrin complex. The accumulation of FER in the integrin complex and the inhibitory effects of JMP could be reversed with a peptide that mimics the first coiled-coil domain of FER. The results suggested that FER mediates crosstalk between CDH2 and ITGB1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10851023" 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="#19" class="mim-tip-reference" title="Van Aken, E. H., Papeleu, P., De Potter, P., Bruyneel, E., Philippe, J., Seregard, S., Kvanta, A., De Laey, J.-J., Mareel, M. M. <strong>Structure and function of the N-cadherin/catenin complex in retinoblastoma.</strong> Invest. Ophthal. Vis. Sci. 43: 595-602, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11867572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11867572</a>]" pmid="11867572">Van Aken et al. (2002)</a> studied the cadherin-catenin complex in retinoblastoma and normal retina tissues. In both cases, they found that N-cadherin was associated with alpha- and beta-catenin (<a href="/entry/116805">116805</a>; <a href="/entry/116806">116806</a>) but not with E-cadherin (CDH1; <a href="/entry/192090">192090</a>) or P-cadherin (CDH3; <a href="/entry/114021">114021</a>), retinoblastoma cells, in contrast with normal retina, expressed an N-cadherin/catenin complex that was irregularly distributed and weakly linked to the cytoskeleton. In retinoblastoma, this complex acted as an invasion promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11867572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In cultured rat hippocampal neurons, <a href="#17" class="mim-tip-reference" title="Togashi, H., Abe, K., Mizoguchi, A., Takaoka, K., Chisaka, O., Takeichi, M. <strong>Cadherin regulates dendritic spine morphogenesis.</strong> Neuron 35: 77-89, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12123610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12123610</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)00748-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12123610">Togashi et al. (2002)</a> showed that blockade of the known hippocampal cadherins (cadherin-8, <a href="/entry/603008">603008</a>; cadherin-11, <a href="/entry/600023">600023</a>; and N-cadherin) resulted in alterations of dendritic spine morphology, such as filopodia-like elongation of the spine and bifurcation of its head structure, along with concomitant disruption of the distribution of postsynaptic proteins and perturbation of synaptic vesicle recycling. The findings suggested that cadherins regulate dendritic spine morphogenesis and related synaptic functions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12123610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Rubinek, T., Yu, R., Hadani, M., Barkai, G., Nass, D., Melmed, S., Shimon, I. <strong>The cell adhesion molecules N-cadherin and neural cell adhesion molecule regulate human growth hormone: a novel mechanism for regulating pituitary hormone secretion.</strong> J. Clin. Endocr. Metab. 88: 3724-3730, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915661</a>] [<a href="https://doi.org/10.1210/jc.2003-030090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915661">Rubinek et al. (2003)</a> studied the role of pituicyte cell-cell contact mediated by CDH2 and NCAM1 (<a href="/entry/116930">116930</a>) in the regulation of GH (<a href="/entry/139250">139250</a>) secretion. RT-PCR showed CDH2 mRNA expression in 8 of 12 GH-secreting adenomas compared with 1 of 7 prolactin-cell adenomas. CDH2 and NCAM1 were similarly expressed in adenomas and in adult and fetal normal pituitary tissues. Cell adhesion molecule (CAM) stimulation increased GH secretion from pituitary fetal cultures by 40 to 60% and also from cultured GH adenoma cells by 40 to 75%. Disrupting CDH2 homophilic binding by anti-CDH2 antibody decreased fetal, but not tumorous, GH secretion by 40%. This study indicated that pituitary cell-cell contact mediated by homophilic interactions between adhesion molecules regulates human GH secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hayashi, T., Carthew, R. W. <strong>Surface mechanics mediate pattern formation in the developing retina.</strong> Nature 431: 647-652, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15470418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15470418</a>] [<a href="https://doi.org/10.1038/nature02952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15470418">Hayashi and Carthew (2004)</a> investigated the physical basis of biologic patterning of the Drosophila retina in vivo. They demonstrated that E-cadherin and N-cadherin mediate apical adhesion between retina epithelial cells. Differential expression of N-cadherin within a subgroup of retinal cells (cone cells) caused them to form an overall shape that minimized their surface contact with surrounding cells. The cells within this group, in both normal and experimentally manipulated conditions, packed together in the same way as soap bubbles do. The shaping of cone cell group and packing of its components precisely imitated the physical tendency for surfaces to be minimized. <a href="#6" class="mim-tip-reference" title="Hayashi, T., Carthew, R. W. <strong>Surface mechanics mediate pattern formation in the developing retina.</strong> Nature 431: 647-652, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15470418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15470418</a>] [<a href="https://doi.org/10.1038/nature02952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15470418">Hayashi and Carthew (2004)</a> concluded that simple patterned expression of N-cadherin resulted in a complex spatial pattern of cells owing to cellular surface mechanics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15470418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Banh, C., Fugere, C., Brossay, L. <strong>Immunoregulatory functions of KLRG1 cadherin interactions are dependent on forward and reverse signaling.</strong> Blood 114: 5299-5306, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19855082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19855082</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19855082[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/10.1182/blood-2009-06-228353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19855082">Banh et al. (2009)</a> showed that the first 2 extracellular domains of N-cadherin interacted with the inhibitory receptor KLRG1 (<a href="/entry/604874">604874</a>), blocked interaction of KLRG1 with E-cadherin, and could regulate KLRG1 signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19855082" 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="#18" class="mim-tip-reference" title="Tsai, T. Y.-C., Sikora, M., Xia, P., Colak-Champollion, T., Knaut, H., Heisenberg, C.-P., Megason, S. G. <strong>An adhesion code ensures robust pattern formation during tissue morphogenesis.</strong> Science 370: 113-116, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33004519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33004519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33004519[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/10.1126/science.aba6637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33004519">Tsai et al. (2020)</a> noted that, in zebrafish spinal cord, neural progenitors form stereotypic patterns despite noisy morphogen signaling and large-scale cellular rearrangements during morphogenesis and growth. By directly measuring adhesion forces and preferences for 3 types of endogenous neural progenitors, <a href="#18" class="mim-tip-reference" title="Tsai, T. Y.-C., Sikora, M., Xia, P., Colak-Champollion, T., Knaut, H., Heisenberg, C.-P., Megason, S. G. <strong>An adhesion code ensures robust pattern formation during tissue morphogenesis.</strong> Science 370: 113-116, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33004519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33004519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33004519[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/10.1126/science.aba6637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33004519">Tsai et al. (2020)</a> provided evidence for the differential adhesion model, in which differences in intercellular adhesion mediate cell sorting. Cell type-specific combinatorial expression of different classes of cadherins, including N-cadherin, cadherin-11, and protocadherin-19 (PCDH19; <a href="/entry/300460">300460</a>), resulted in homotypic preference ex vivo and patterning robustness in vivo. The differential adhesion code was regulated by the shh (<a href="/entry/600725">600725</a>) morphogen gradient. <a href="#18" class="mim-tip-reference" title="Tsai, T. Y.-C., Sikora, M., Xia, P., Colak-Champollion, T., Knaut, H., Heisenberg, C.-P., Megason, S. G. <strong>An adhesion code ensures robust pattern formation during tissue morphogenesis.</strong> Science 370: 113-116, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33004519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33004519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33004519[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/10.1126/science.aba6637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33004519">Tsai et al. (2020)</a> proposed that robust patterning during tissue morphogenesis results from interplay between adhesion-based self-organization and morphogen-directed patterning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33004519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Arrhythmogenic Right Ventricular Dysplasia 14</em></strong></p><p>
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In affected members of a 3-generation South African family segregating autosomal dominant arrhythmogenic right ventricular dysplasia (ARVD14; <a href="/entry/618920">618920</a>), <a href="#8" class="mim-tip-reference" title="Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L. <strong>Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy.</strong> Circ. Cardiovasc. Genet. 10: e001605, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28280076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28280076</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.116.001605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28280076">Mayosi et al. (2017)</a> identified heterozygosity for a missense mutation in the CDH2 gene (Q229P; <a href="#0001">114020.0001</a>) that segregated fully with disease. Screening of 73 additional ARVD probands revealed 1 patient with another missense mutation in CDH2 (D407N; <a href="#0002">114020.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28280076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome</em></strong></p><p>
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In 9 unrelated patients with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; <a href="/entry/618929">618929</a>), <a href="#1" class="mim-tip-reference" title="Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others. <strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong> Am. J. Hum. Genet. 105: 854-868, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31585109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31585109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31585109[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.2019.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31585109">Accogli et al. (2019)</a> identified heterozygosity for de novo mutations in the CDH2 gene (see, e.g., <a href="#0003">114020.0003</a>-<a href="#0007">114020.0007</a>). Functional analysis indicated that the mutations impair the cell adhesion function of N-cadherin by affecting self-binding as well as trans-binding with wildtype N-cadherin. Noting the neurodevelopmental features observed in the affected individuals, including agenesis of the corpus callosum, periventricular nodular heterotopias, hyposmia, mirror movements, Duane anomaly, and abnormal shoulder muscle innervation, the authors suggested that CDH2 plays a critical role in neuronal migration and axon pathfinding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31585109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 unrelated patients with ACOGS, <a href="#11" class="mim-tip-reference" title="Reis, L. M., Houssin, N. S., Zamora, C., Abdul-Rahman, O., Kalish, J. M., Zackai, E. H., Plageman, T. F., Jr. <strong>Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.</strong> Clin. Genet. 97: 502-508, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31650526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31650526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31650526[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/10.1111/cge.13660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31650526">Reis et al. (2020)</a> identified heterozygosity for mutations in the CDH2 gene (see, e.g., <a href="#0008">114020.0008</a>-<a href="#0009">114020.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31650526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Attention Deficit-Hyperactivity Disorder 8</em></strong></p><p>
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In 3 sibs, born of consanguineous Bedouin parents, with attention deficit-hyperactivity disorder-8 (ADHD8; <a href="/entry/619957">619957</a>), <a href="#5" class="mim-tip-reference" title="Halperin, D., Stavsky, A., Kadir, R., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Proskorovski-Ohayon, R., Perez, Y., Nudelman, H., Stoler, O., Rotblat, B., Lifschytz, T., Lotan, A., Meiri, G., Gitler, D., Birk, O. S. <strong>CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.</strong> Nature Commun. 12: 6187, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34702855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34702855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34702855[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/s41467-021-26426-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34702855">Halperin et al. (2021)</a> identified a homozygous missense mutation in the CDH2 gene (H150Y; <a href="#0010">114020.0010</a>). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. In vitro functional expression studies showed that the mutation interfered with CDH2 protein processing, causing decreased proteolytic cleavage efficacy and defective N-cadherin protein maturation. Mutant mice with a homozygous H150Y mutation in the Cdh2 gene demonstrated motor hyperactivity, with greater traveling distance, increased velocity, and prolonged mobility time in the open-field exploratory test compared to controls (see ANIMAL MODEL). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34702855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Halperin, D., Stavsky, A., Kadir, R., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Proskorovski-Ohayon, R., Perez, Y., Nudelman, H., Stoler, O., Rotblat, B., Lifschytz, T., Lotan, A., Meiri, G., Gitler, D., Birk, O. S. <strong>CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.</strong> Nature Commun. 12: 6187, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34702855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34702855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34702855[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/s41467-021-26426-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34702855">Halperin et al. (2021)</a> found that mutant mice homozygous for the H150Y mutation in the Cdh2 gene demonstrated hyperactive behavior. Mutant mice also showed an elevated startle amplitude in the acoustic startle reflex test (ASR) compared to controls, suggesting deficits in sensorimotor integration. Detailed analysis of the neurons from brains of mutant mice showed that homozygosity for the Cdh2 mutation was associated with a decrease in the size of the presynaptic vesicle cluster, a decrease in the readily releasable pool size of synaptic vesicles in neurons, and an attenuation of synaptic vesicle release compared to controls. The frequency of spontaneous synaptic release was also decreased compared to controls. There was reduced tyrosine hydroxylase expression and dopamine levels in the midbrain and prefrontal cortex. The authors suggested that deficits in synaptic formation due to aberrant processing of N-cadherin is the underlying mechanism for the clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34702855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=114020[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs965753331 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs965753331;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs965753331?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs965753331" 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=rs965753331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a 3-generation white South African family (ACM2) with arrhythmogenic right ventricular dysplasia (ARVD14; <a href="/entry/618920">618920</a>), <a href="#8" class="mim-tip-reference" title="Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L. <strong>Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy.</strong> Circ. Cardiovasc. Genet. 10: e001605, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28280076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28280076</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.116.001605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28280076">Mayosi et al. (2017)</a> identified heterozygosity for a c.686A-C transversion in the CDH2 gene, resulting in a gln229-to-pro (Q229P) substitution at a highly conserved residue within the EC1 domain. The mutation segregated fully with disease in the family and was not found in 200 white South African control chromosomes or in the 1000 Genomes or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28280076" 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"><span class="text-primary">●</span> rs568089577 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs568089577;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs568089577?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs568089577" 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=rs568089577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a white South African man (ACM11) with arrhythmogenic right ventricular dysplasia (ARVD14; <a href="/entry/618920">618920</a>), <a href="#8" class="mim-tip-reference" title="Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L. <strong>Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy.</strong> Circ. Cardiovasc. Genet. 10: e001605, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28280076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28280076</a>] [<a href="https://doi.org/10.1161/CIRCGENETICS.116.001605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28280076">Mayosi et al. (2017)</a> identified heterozygosity for a c.1219G-A transition in the CDH2 gene, resulting in an asp407-to-asn (D407N) substitution at a highly conserved residue within the EC3 domain. The mutation was not found in his unaffected mother or in 200 white South African control chromosomes or the Helmholtz database; however, it was present once in the 1000 Genomes database (minor allele frequency, 0.0002) and once in the ExAC database (MAF, 0.000008). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28280076" 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">rs1599011050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1599011050;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=rs1599011050" 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=rs1599011050" 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=RCV001007453 OR RCV001195092 OR RCV001261827" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001007453, RCV001195092, RCV001261827" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001007453...</a>
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<p>In an 9-year-old boy (patient 2) with agenesis of the corpus callosum, tricuspid regurgitation, Duane anomaly and right ptosis, and micropenis (ACOGS; <a href="/entry/618929">618929</a>), <a href="#1" class="mim-tip-reference" title="Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others. <strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong> Am. J. Hum. Genet. 105: 854-868, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31585109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31585109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31585109[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.2019.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31585109">Accogli et al. (2019)</a> identified heterozygosity for a de novo c.1789G-A transition (c.1789G-A, NM_001792.5) in the CDH2 gene, resulting in an asp597-to-asn (D597N) substitution at a highly conserved residue in the calcium-binding site within the EC4-EC5 linker region. The mutation was not found in the gnomAD database. Analysis in transfected L cells showed that cells expressing the D597N variant displayed reduced aggregation compared to wildtype N-cadherin, forming smaller aggregates and resulting in a significantly lower index of aggregation compared to wildtype. In addition, mixed aggregation assay showed that fewer mixed aggregates were formed with the D597N mutant compared to wildtype. The authors concluded that the D597N mutation impairs the cell adhesion function of N-cadherin by affecting self-binding as well as trans-binding with wildtype N-cadherin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31585109" 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">rs1599011050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1599011050;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=rs1599011050" 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=rs1599011050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an infant girl (patient 3) who died at 2 months of age with agenesis of the corpus callosum, atrioventricular canal defect, and roving eye movements with saccadic intrusions (ACOGS; <a href="/entry/618929">618929</a>), <a href="#1" class="mim-tip-reference" title="Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others. <strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong> Am. J. Hum. Genet. 105: 854-868, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31585109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31585109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31585109[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.2019.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31585109">Accogli et al. (2019)</a> identified heterozygosity for a de novo c.1789G-T transversion (c.1789G-T, NM_001792.5) in the CDH2 gene, resulting in an asp597-to-tyr (D597Y) substitution at a highly conserved residue in the calcium-binding site within the EC4-EC5 linker region. The mutation was not found in the gnomAD database. At 8 weeks of life, the proband developed progressive shortness of breath with cardiomegaly, pulmonary edema, and ultimately pulseless bradycardia, for which resuscitation attempts were unsuccessful. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31585109" 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"><span class="text-primary">●</span> rs199984052 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199984052;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs199984052?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199984052" 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=rs199984052" 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=RCV000991214 OR RCV001007458 OR RCV001195094 OR RCV001261829 OR RCV002462248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000991214, RCV001007458, RCV001195094, RCV001261829, RCV002462248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000991214...</a>
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<p>In a 24-year-old man (patient 7) with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; <a href="/entry/618929">618929</a>), <a href="#1" class="mim-tip-reference" title="Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others. <strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong> Am. J. Hum. Genet. 105: 854-868, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31585109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31585109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31585109[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.2019.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31585109">Accogli et al. (2019)</a> identified heterozygosity for a de novo c.2027A-G transition (c.2027A-G, NM_001792.5) in the CDH2 gene, resulting in a tyr676-to-cys (Y676C) substitution at a highly conserved residue within the EC5 domain. The mutation was not found in his unaffected parents or 2 sibs, or in the gnomAD database. Analysis in transfected L cells showed that cells expressing the Y676C variant displayed reduced aggregation compared to wildtype N-cadherin, forming smaller aggregates and resulting in a significantly lower index of aggregation compared to wildtype. In addition, mixed aggregation assay showed that fewer mixed aggregates were formed with the Y676C mutant compared to wildtype. The authors concluded that the Y676C mutation impairs the cell adhesion function of N-cadherin by affecting self-binding as well as trans-binding with wildtype N-cadherin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31585109" 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">rs1598982488 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1598982488;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=rs1598982488" 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=rs1598982488" 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=RCV001007459 OR RCV001195095 OR RCV001261830" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001007459, RCV001195095, RCV001261830" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001007459...</a>
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<p>In a 37-year-old woman (patient 8) with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; <a href="/entry/618929">618929</a>), <a href="#1" class="mim-tip-reference" title="Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others. <strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong> Am. J. Hum. Genet. 105: 854-868, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31585109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31585109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31585109[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.2019.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31585109">Accogli et al. (2019)</a> identified heterozygosity for a de novo 2-bp deletion (c.2563_2564delCT, NM_001792.5) in the CDH2 gene, causing a frameshift predicted to result in a premature termination codon (Leu855ValfsTer4) and a shortened cytoplasmic tail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31585109" 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">rs1598982483 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1598982483;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=rs1598982483" 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=rs1598982483" 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=RCV001007460 OR RCV001195096 OR RCV001261831" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001007460, RCV001195096, RCV001261831" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001007460...</a>
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<p>In a 12.75-year-old boy (patient 9) with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; <a href="/entry/618929">618929</a>), <a href="#1" class="mim-tip-reference" title="Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others. <strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong> Am. J. Hum. Genet. 105: 854-868, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31585109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31585109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31585109[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.2019.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31585109">Accogli et al. (2019)</a> identified heterozygosity for a de novo 4-bp duplication (c.2564_2567dup) in the CDH2 gene, causing a frameshift predicted to result in a premature termination codon (Leu856PhefsTer5) and a shortened cytoplasmic tail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31585109" 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">rs2013040501 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2013040501;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=rs2013040501" 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=rs2013040501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a boy (patient 1) with agenesis of the corpus callosum, coarctation of the aorta, and Peters anomaly (ACOGS; <a href="/entry/618929">618929</a>), <a href="#11" class="mim-tip-reference" title="Reis, L. M., Houssin, N. S., Zamora, C., Abdul-Rahman, O., Kalish, J. M., Zackai, E. H., Plageman, T. F., Jr. <strong>Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.</strong> Clin. Genet. 97: 502-508, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31650526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31650526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31650526[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/10.1111/cge.13660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31650526">Reis et al. (2020)</a> identified heterozygosity for a de novo splicing variant (c.702+1G-A) in the CDH2 gene, predicted to cause loss of the donor splice site and result in a premature termination codon. The mutation was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31650526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
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CDH2, VAL162ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2013111940 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2013111940;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=rs2013111940" 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=rs2013111940" 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=RCV001195098" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001195098" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001195098</a>
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<p>In a boy of Jamaican descent (patient 2) with agenesis of the corpus callosum, Peters anomaly, and bilateral cryptorchidism (ACOGS; <a href="/entry/618929">618929</a>), who was previously reported as patient 6 by <a href="#12" class="mim-tip-reference" title="Reis, L. M., Tyler, R. C., Abdul-Rahman, O., Trapane, P., Wallerstein, R., Broome, D., Hoffman, J., Khan, A., Paradiso, C., Ron, N., Bergner, A., Semina, E. V. <strong>Mutation analysis of B3GALTL in Peters plus syndrome.</strong> Am. J. Med. Genet. 146A: 2603-2610, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18798333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798333">Reis et al. (2008)</a>, <a href="#11" class="mim-tip-reference" title="Reis, L. M., Houssin, N. S., Zamora, C., Abdul-Rahman, O., Kalish, J. M., Zackai, E. H., Plageman, T. F., Jr. <strong>Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.</strong> Clin. Genet. 97: 502-508, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31650526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31650526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31650526[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/10.1111/cge.13660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31650526">Reis et al. (2020)</a> identified heterozygosity for a c.485T-A transversion in the CDH2 gene, resulting in a val162-to-asp (V162D) substitution. The mutation was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18798333+31650526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8 (1 family)</strong>
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CDH2, HIS150TYR
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004584230" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004584230" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004584230</a>
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<p>In 3 sibs, born of consanguineous Bedouin parents, with attention deficit-hyperactivity disorder-8 (ADHD8; <a href="/entry/619957">619957</a>), <a href="#5" class="mim-tip-reference" title="Halperin, D., Stavsky, A., Kadir, R., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Proskorovski-Ohayon, R., Perez, Y., Nudelman, H., Stoler, O., Rotblat, B., Lifschytz, T., Lotan, A., Meiri, G., Gitler, D., Birk, O. S. <strong>CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.</strong> Nature Commun. 12: 6187, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34702855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34702855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34702855[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/s41467-021-26426-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34702855">Halperin et al. (2021)</a> identified a homozygous c.355C-T transition (c.355C-T, NM_001792.4) in the CDH2 gene, resulting in a his150-to-tyr (H150Y) substitution at a highly conserved residue in the catalytic pocket of the furin protease active site. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. In vitro functional expression studies showed that the mutation interfered with CDH2 protein processing, causing decreased proteolytic cleavage efficacy and defective N-cadherin protein maturation. Mutant mice with a homozygous H150Y mutation in the Cdh2 gene demonstrated motor hyperactivity, with greater traveling distance, increased velocity, and prolonged mobility time in the open-field exploratory test compared to controls. Mutant mice also showed an elevated startle amplitude in the acoustic startle reflex test (ASR) compared to controls, suggesting deficits in sensorimotor integration. Detailed analysis of the neurons from brains of mutant mice showed that homozygosity for the Cdh2 mutation was associated with a decrease in the size of the presynaptic vesicle cluster, a decrease in the readily releasable pool size of synaptic vesicles in neurons, and an attenuation of synaptic vesicle release compared to controls. The frequency of spontaneous synaptic release was also decreased compared to controls. There was reduced tyrosine hydroxylase expression and dopamine levels in the midbrain and prefrontal cortex. The authors suggested that deficits in synaptic formation due to aberrant processing of N-cadherin is the underlying mechanism for the clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34702855" 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>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others.
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<strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong>
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[<a href="https://doi.org/10.1016/j.ajhg.2019.09.005" target="_blank">Full Text</a>]
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Arregui, C., Pathre, P., Lilien, J., Balsamo, J.
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<strong>The nonreceptor tyrosine kinase Fer mediates cross-talk between N-cadherin and beta-1-integrins.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851023</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10851023[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=10851023" 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/10.1083/jcb.149.6.1263" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Banh2009" class="mim-anchor"></a>
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<div class="">
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Banh, C., Fugere, C., Brossay, L.
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<strong>Immunoregulatory functions of KLRG1 cadherin interactions are dependent on forward and reverse signaling.</strong>
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Blood 114: 5299-5306, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19855082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19855082</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19855082[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=19855082" 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/10.1182/blood-2009-06-228353" target="_blank">Full Text</a>]
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<a id="Garcia-Castro2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Garcia-Castro, M. I., Vielmetter, E., Bronner-Fraser, M.
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<strong>N-cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry.</strong>
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Science 288: 1047-1051, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10807574" 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/10.1126/science.288.5468.1047" target="_blank">Full Text</a>]
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<a id="Halperin2021" class="mim-anchor"></a>
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Halperin, D., Stavsky, A., Kadir, R., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Proskorovski-Ohayon, R., Perez, Y., Nudelman, H., Stoler, O., Rotblat, B., Lifschytz, T., Lotan, A., Meiri, G., Gitler, D., Birk, O. S.
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<strong>CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.</strong>
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Nature Commun. 12: 6187, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34702855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34702855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34702855[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=34702855" 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/s41467-021-26426-1" target="_blank">Full Text</a>]
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<a id="Hayashi2004" class="mim-anchor"></a>
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Hayashi, T., Carthew, R. W.
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<strong>Surface mechanics mediate pattern formation in the developing retina.</strong>
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[<a href="https://doi.org/10.1038/nature02952" target="_blank">Full Text</a>]
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<a id="Hermiston1995" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1126/science.270.5239.1203" target="_blank">Full Text</a>]
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<a id="Mayosi2017" class="mim-anchor"></a>
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Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L.
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[<a href="https://doi.org/10.1161/CIRCGENETICS.116.001605" target="_blank">Full Text</a>]
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<a id="Miyatani1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyatani, S., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Takeichi, M.
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<strong>Genomic structure and chromosomal mapping of the mouse N-cadherin gene.</strong>
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Proc. Nat. Acad. Sci. 89: 8443-8447, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.89.18.8443" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Reid1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reid, R. A., Hemperly, J. J.
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<strong>Human N-cadherin: nucleotide and deduced amino acid sequence.</strong>
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Nucleic Acids Res. 18: 5896 only, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2216790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2216790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2216790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/18.19.5896" target="_blank">Full Text</a>]
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<a id="Reis2020" class="mim-anchor"></a>
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<p class="mim-text-font">
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Reis, L. M., Houssin, N. S., Zamora, C., Abdul-Rahman, O., Kalish, J. M., Zackai, E. H., Plageman, T. F., Jr.
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<strong>Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31650526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31650526</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31650526[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=31650526" 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/10.1111/cge.13660" target="_blank">Full Text</a>]
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<a id="Reis2008" class="mim-anchor"></a>
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Reis, L. M., Tyler, R. C., Abdul-Rahman, O., Trapane, P., Wallerstein, R., Broome, D., Hoffman, J., Khan, A., Paradiso, C., Ron, N., Bergner, A., Semina, E. V.
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<strong>Mutation analysis of B3GALTL in Peters plus syndrome.</strong>
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Am. J. Med. Genet. 146A: 2603-2610, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18798333[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=18798333" 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.32498" target="_blank">Full Text</a>]
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<a id="Rubinek2003" class="mim-anchor"></a>
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Rubinek, T., Yu, R., Hadani, M., Barkai, G., Nass, D., Melmed, S., Shimon, I.
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<strong>The cell adhesion molecules N-cadherin and neural cell adhesion molecule regulate human growth hormone: a novel mechanism for regulating pituitary hormone secretion.</strong>
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J. Clin. Endocr. Metab. 88: 3724-3730, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915661" 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/10.1210/jc.2003-030090" target="_blank">Full Text</a>]
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<a id="Stumpf2020" class="mim-anchor"></a>
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 06/23/2020.
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<a id="Takeichi1987" class="mim-anchor"></a>
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Takeichi, M.
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<strong>Cadherins: a molecular family essential for selective cell-cell adhesion and animal morphogenesis.</strong>
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Trends Genet. 3: 213-217, 1987.
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Tanaka, H., Shan, W., Phillips, G. R., Arndt, K., Bozdagi, O., Shapiro, L., Huntley, G. W., Benson, D. L., Colman, D. R.
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<strong>Molecular modification of N-cadherin in response to synaptic activity.</strong>
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Neuron 25: 93-107, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10707975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10707975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10707975" 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/s0896-6273(00)80874-0" target="_blank">Full Text</a>]
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Togashi, H., Abe, K., Mizoguchi, A., Takaoka, K., Chisaka, O., Takeichi, M.
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<strong>Cadherin regulates dendritic spine morphogenesis.</strong>
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Neuron 35: 77-89, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12123610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12123610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12123610" 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/s0896-6273(02)00748-1" target="_blank">Full Text</a>]
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<a id="Tsai2020" class="mim-anchor"></a>
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Tsai, T. Y.-C., Sikora, M., Xia, P., Colak-Champollion, T., Knaut, H., Heisenberg, C.-P., Megason, S. G.
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<strong>An adhesion code ensures robust pattern formation during tissue morphogenesis.</strong>
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Science 370: 113-116, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33004519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33004519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33004519[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=33004519" 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/10.1126/science.aba6637" target="_blank">Full Text</a>]
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Van Aken, E. H., Papeleu, P., De Potter, P., Bruyneel, E., Philippe, J., Seregard, S., Kvanta, A., De Laey, J.-J., Mareel, M. M.
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<strong>Structure and function of the N-cadherin/catenin complex in retinoblastoma.</strong>
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Invest. Ophthal. Vis. Sci. 43: 595-602, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11867572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11867572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11867572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Wallis1994" class="mim-anchor"></a>
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<div class="">
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Wallis, J., Fox, M. F., Walsh, F. S.
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<strong>Structure of the human N-cadherin gene: YAC analysis and fine chromosomal mapping to 18q11.2.</strong>
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Genomics 22: 172-179, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959764" 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/10.1006/geno.1994.1358" target="_blank">Full Text</a>]
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<a id="Walsh1990" class="mim-anchor"></a>
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Walsh, F. S., Barton, C. H., Putt, W., Moore, S. E., Kelsell, D., Spurr, N., Goodfellow, P. N.
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<strong>N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene.</strong>
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J. Neurochem. 55: 805-812, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2384753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2384753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2384753" 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/10.1111/j.1471-4159.1990.tb04563.x" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/12/2022
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/07/2020<br>Marla J. F. O'Neill - updated : 06/26/2020<br>Marla J. F. O'Neill - updated : 06/23/2020<br>Paul J. Converse - updated : 11/30/2011<br>Ada Hamosh - updated : 1/27/2005<br>John A. Phillips, III - updated : 10/14/2004<br>Anne M. Stumpf - updated : 10/14/2004<br>Cassandra L. Kniffin - updated : 2/20/2003<br>Jane Kelly - updated : 11/7/2002<br>Paul J. Converse - updated : 8/1/2000<br>Paul J. Converse - updated : 5/17/2000<br>Ada Hamosh - updated : 5/11/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 7/24/1991
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carol : 08/30/2024
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alopez : 07/13/2022<br>ckniffin : 07/12/2022<br>mgross : 12/07/2020<br>alopez : 06/26/2020<br>alopez : 06/23/2020<br>mgross : 11/30/2011<br>carol : 10/24/2008<br>wwang : 2/7/2005<br>wwang : 1/31/2005<br>terry : 1/27/2005<br>alopez : 10/15/2004<br>alopez : 10/14/2004<br>alopez : 10/14/2004<br>alopez : 10/14/2004<br>cwells : 2/27/2003<br>ckniffin : 2/20/2003<br>carol : 11/7/2002<br>mgross : 8/1/2000<br>mgross : 5/17/2000<br>alopez : 5/11/2000<br>terry : 5/11/2000<br>psherman : 8/27/1998<br>carol : 8/6/1998<br>mark : 11/16/1995<br>terry : 8/8/1994<br>carol : 5/12/1994<br>carol : 10/7/1992<br>supermim : 3/16/1992<br>carol : 11/6/1991
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<strong>*</strong> 114020
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CADHERIN 2; CDH2
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CADHERIN, NEURONAL<br />
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N-CADHERIN; NCAD<br />
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CALCIUM-DEPENDENT ADHESION PROTEIN, NEURONAL; CDHN
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CDH2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 18q12.1
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:27,932,879-28,177,130 </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">
|
|
<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
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</th>
|
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<th>
|
|
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>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
18q12.1
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</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Attention deficit-hyperactivity disorder 8
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619957
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
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|
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|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
618929
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Arrhythmogenic right ventricular dysplasia 14
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
618920
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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<br />
|
|
</div>
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|
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<div>
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|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>The CDH2 gene encodes N (neuronal)-cadherin, which has an essential role in the early steps of brain morphogenesis (summary by Halperin et al., 2021). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Reid and Hemperly (1990) obtained a full-length NCAD clone from a Kelly neuroblastoma library. The NCAD gene encodes a 907-amino acid protein that includes a 159-amino acid signal sequence. Human and mouse nucleotide sequences are 96% identical. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>Miyatani et al. (1992) showed that the mouse Ncad gene contains 16 exons dispersed over more than 200 kb of genomic DNA. The large size of the N-cadherin gene, compared with its cDNA (4.3 kb), was ascribed to the fact that the first and second introns are 34.2 kb and more than 100 kb long, respectively. Miyatani et al. (1992) compared the NCAD, liver cell adhesion molecule (LCAM; see 192090), and PCAD (CDH3) genes and showed that the exon-intron boundaries are fully conserved between them, except that the first exon of P-cadherin includes the first and second exons of the other 2 genes. Also, the second intron, which is equivalent to the first intron in P-cadherin, is exceptionally large and this structural feature is conserved in all 3 of these genes. </p><p>Wallis et al. (1994) demonstrated that the human N-cadherin gene contains 16 exons and its sequence is highly similar to both the mouse NCAD gene (including the large first and second introns) and other cadherin genes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In Southern analysis of a panel of somatic cell hybrids, Walsh et al. (1990) mapped the NCAD gene to chromosome 18. By interspecific backcross analysis, Miyatani et al. (1992) found that the gene in the mouse is located in the proximal region of chromosome 18. </p><p>By in situ hybridization, Wallis et al. (1994) refined the map position of N-cadherin to 18q11.2. </p><p>Stumpf (2020) mapped the CDH2 gene to chromosome 18q12.1 based on an alignment of the CDH2 sequence (GenBank BC036470) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Family</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The cadherin gene family encode proteins that mediate calcium-ion-dependent adhesion (Takeichi, 1987). Three members of this family are E-cadherin, N-cadherin, and P-cadherin. E-cadherin appears to be identical to the protein called uvomorulin. N-cadherin is expressed in the brain and skeletal and cardiac muscle.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hermiston and Gordon (1995) noted that the mouse intestinal epithelium expresses a sequence of 'developmental events'--proliferation, lineage allocation, migration, differentiation, and death--throughout life. Proliferation is confined to the crypts of Lieberkuhn. The crypt's multipotent stem cell gives rise to enterocytes, mucus-producing goblet cells, enteroendocrine cells, and Paneth cells. Cells of these 4 lineages differentiate during an orderly migration and are frequently eliminated by apoptosis and exfoliation or phagocytosis. Renewal is rapid (3 to 20 days). Results from cell culture studies indicate that cadherin-catenin complexes regulate cell polarity, formation of junctional complexes, migration, and proliferation. Hermiston and Gordon (1995) transfected embryonic stem cells with a dominant-negative N-cadherin mutant under the control of promoters active in small intestinal epithelial cells and introduced them into C57BL/6 blastocysts. Analysis of adult chimeric mice revealed that expression of the mutant along the entire crypt-villus axis, but not in the villus epithelium alone, produced an inflammatory bowel disease resembling Crohn disease (see 266600). The mutation perturbed proliferation, migration, and death patterns in crypts, leading to adenomas. The model provided insights into cadherin function in an adult organ and the factors underlying inflammatory bowel disease and intestinal neoplasia. </p><p>Within the bilaterally symmetric vertebrate body plan, many organs develop asymmetrically. Garcia-Castro et al. (2000) demonstrated that the cell adhesion molecule N-cadherin is one of the earliest proteins to be asymmetrically expressed in the chicken embryo and that its activity is required during gastrulation for proper establishment of the left-right axis. Blocking N-cadherin function randomizes heart looping and alters the expression of Snail (604238) and Pitx2 (601542), later components of the molecular cascade that regulates left-right asymmetry. However, the expression of other components of this cascade, Nodal (601265) and Lefty (see 601877), was unchanged after blocking N-cadherin function, suggesting the existence of parallel pathways in the establishment of left-right morphogenesis. Garcia-Castro et al. (2000) concluded that their results suggest that N-cadherin-mediated cell adhesion events are required for establishment of left-right asymmetry. </p><p>At certain central nervous system synapses, pre- to postsynaptic adhesion is mediated at least in part by CDH2. Tanaka et al. (2000) demonstrated that upon depolarization of cultured hippocampal neurons by potassium treatment, or the application of N-methyl-D-aspartate or alpha-latrotoxin, synaptic CDH2 dimerizes and becomes markedly protease resistant. The resistance persisted for at least 2 hours while other surface molecules, including other cadherins, were completely degraded. The acquisition of protease resistance and dimerization of CDH2 was not dependent on new protein synthesis. Tanaka et al. (2000) concluded that synaptic adhesion is dynamically and locally controlled and is modulated by synaptic activity. </p><p>Arregui et al. (2000) demonstrated that cell-permeable (Trojan) peptides containing the third helix of the antennapedia homeodomain fused to a peptide mimicking the juxtamembrane (JMP) region of the cytoplasmic domain of CDH2 result in the inhibition of both CDH2 and beta-1 integrin (ITGB1; 135630) function. Microscopic analysis showed that expression of JMP, which binds to the cytoplasmic domain of CDH2, results in a reduction of neurite outgrowth on cadherin substrates. Treatment of cells with JMP resulted in the release of FER (176942) from the cadherin complex and its accumulation in the integrin complex. The accumulation of FER in the integrin complex and the inhibitory effects of JMP could be reversed with a peptide that mimics the first coiled-coil domain of FER. The results suggested that FER mediates crosstalk between CDH2 and ITGB1. </p><p>Van Aken et al. (2002) studied the cadherin-catenin complex in retinoblastoma and normal retina tissues. In both cases, they found that N-cadherin was associated with alpha- and beta-catenin (116805; 116806) but not with E-cadherin (CDH1; 192090) or P-cadherin (CDH3; 114021), retinoblastoma cells, in contrast with normal retina, expressed an N-cadherin/catenin complex that was irregularly distributed and weakly linked to the cytoskeleton. In retinoblastoma, this complex acted as an invasion promoter. </p><p>In cultured rat hippocampal neurons, Togashi et al. (2002) showed that blockade of the known hippocampal cadherins (cadherin-8, 603008; cadherin-11, 600023; and N-cadherin) resulted in alterations of dendritic spine morphology, such as filopodia-like elongation of the spine and bifurcation of its head structure, along with concomitant disruption of the distribution of postsynaptic proteins and perturbation of synaptic vesicle recycling. The findings suggested that cadherins regulate dendritic spine morphogenesis and related synaptic functions. </p><p>Rubinek et al. (2003) studied the role of pituicyte cell-cell contact mediated by CDH2 and NCAM1 (116930) in the regulation of GH (139250) secretion. RT-PCR showed CDH2 mRNA expression in 8 of 12 GH-secreting adenomas compared with 1 of 7 prolactin-cell adenomas. CDH2 and NCAM1 were similarly expressed in adenomas and in adult and fetal normal pituitary tissues. Cell adhesion molecule (CAM) stimulation increased GH secretion from pituitary fetal cultures by 40 to 60% and also from cultured GH adenoma cells by 40 to 75%. Disrupting CDH2 homophilic binding by anti-CDH2 antibody decreased fetal, but not tumorous, GH secretion by 40%. This study indicated that pituitary cell-cell contact mediated by homophilic interactions between adhesion molecules regulates human GH secretion. </p><p>Hayashi and Carthew (2004) investigated the physical basis of biologic patterning of the Drosophila retina in vivo. They demonstrated that E-cadherin and N-cadherin mediate apical adhesion between retina epithelial cells. Differential expression of N-cadherin within a subgroup of retinal cells (cone cells) caused them to form an overall shape that minimized their surface contact with surrounding cells. The cells within this group, in both normal and experimentally manipulated conditions, packed together in the same way as soap bubbles do. The shaping of cone cell group and packing of its components precisely imitated the physical tendency for surfaces to be minimized. Hayashi and Carthew (2004) concluded that simple patterned expression of N-cadherin resulted in a complex spatial pattern of cells owing to cellular surface mechanics. </p><p>Banh et al. (2009) showed that the first 2 extracellular domains of N-cadherin interacted with the inhibitory receptor KLRG1 (604874), blocked interaction of KLRG1 with E-cadherin, and could regulate KLRG1 signaling. </p><p>Tsai et al. (2020) noted that, in zebrafish spinal cord, neural progenitors form stereotypic patterns despite noisy morphogen signaling and large-scale cellular rearrangements during morphogenesis and growth. By directly measuring adhesion forces and preferences for 3 types of endogenous neural progenitors, Tsai et al. (2020) provided evidence for the differential adhesion model, in which differences in intercellular adhesion mediate cell sorting. Cell type-specific combinatorial expression of different classes of cadherins, including N-cadherin, cadherin-11, and protocadherin-19 (PCDH19; 300460), resulted in homotypic preference ex vivo and patterning robustness in vivo. The differential adhesion code was regulated by the shh (600725) morphogen gradient. Tsai et al. (2020) proposed that robust patterning during tissue morphogenesis results from interplay between adhesion-based self-organization and morphogen-directed patterning. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Arrhythmogenic Right Ventricular Dysplasia 14</em></strong></p><p>
|
|
In affected members of a 3-generation South African family segregating autosomal dominant arrhythmogenic right ventricular dysplasia (ARVD14; 618920), Mayosi et al. (2017) identified heterozygosity for a missense mutation in the CDH2 gene (Q229P; 114020.0001) that segregated fully with disease. Screening of 73 additional ARVD probands revealed 1 patient with another missense mutation in CDH2 (D407N; 114020.0002). </p><p><strong><em>Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome</em></strong></p><p>
|
|
In 9 unrelated patients with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; 618929), Accogli et al. (2019) identified heterozygosity for de novo mutations in the CDH2 gene (see, e.g., 114020.0003-114020.0007). Functional analysis indicated that the mutations impair the cell adhesion function of N-cadherin by affecting self-binding as well as trans-binding with wildtype N-cadherin. Noting the neurodevelopmental features observed in the affected individuals, including agenesis of the corpus callosum, periventricular nodular heterotopias, hyposmia, mirror movements, Duane anomaly, and abnormal shoulder muscle innervation, the authors suggested that CDH2 plays a critical role in neuronal migration and axon pathfinding. </p><p>In 4 unrelated patients with ACOGS, Reis et al. (2020) identified heterozygosity for mutations in the CDH2 gene (see, e.g., 114020.0008-114020.0009). </p><p><strong><em>Attention Deficit-Hyperactivity Disorder 8</em></strong></p><p>
|
|
In 3 sibs, born of consanguineous Bedouin parents, with attention deficit-hyperactivity disorder-8 (ADHD8; 619957), Halperin et al. (2021) identified a homozygous missense mutation in the CDH2 gene (H150Y; 114020.0010). The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. In vitro functional expression studies showed that the mutation interfered with CDH2 protein processing, causing decreased proteolytic cleavage efficacy and defective N-cadherin protein maturation. Mutant mice with a homozygous H150Y mutation in the Cdh2 gene demonstrated motor hyperactivity, with greater traveling distance, increased velocity, and prolonged mobility time in the open-field exploratory test compared to controls (see ANIMAL MODEL). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Halperin et al. (2021) found that mutant mice homozygous for the H150Y mutation in the Cdh2 gene demonstrated hyperactive behavior. Mutant mice also showed an elevated startle amplitude in the acoustic startle reflex test (ASR) compared to controls, suggesting deficits in sensorimotor integration. Detailed analysis of the neurons from brains of mutant mice showed that homozygosity for the Cdh2 mutation was associated with a decrease in the size of the presynaptic vesicle cluster, a decrease in the readily releasable pool size of synaptic vesicles in neurons, and an attenuation of synaptic vesicle release compared to controls. The frequency of spontaneous synaptic release was also decreased compared to controls. There was reduced tyrosine hydroxylase expression and dopamine levels in the midbrain and prefrontal cortex. The authors suggested that deficits in synaptic formation due to aberrant processing of N-cadherin is the underlying mechanism for the clinical manifestations. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDH2, GLN229PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs965753331,
|
|
|
|
|
|
gnomAD: rs965753331,
|
|
|
|
|
|
ClinVar: RCV001194670
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a 3-generation white South African family (ACM2) with arrhythmogenic right ventricular dysplasia (ARVD14; 618920), Mayosi et al. (2017) identified heterozygosity for a c.686A-C transversion in the CDH2 gene, resulting in a gln229-to-pro (Q229P) substitution at a highly conserved residue within the EC1 domain. The mutation segregated fully with disease in the family and was not found in 200 white South African control chromosomes or in the 1000 Genomes or ExAC databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDH2, ASP407ASN ({dbSNP rs568089577})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs568089577,
|
|
|
|
|
|
gnomAD: rs568089577,
|
|
|
|
|
|
ClinVar: RCV001194671, RCV002508294
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a white South African man (ACM11) with arrhythmogenic right ventricular dysplasia (ARVD14; 618920), Mayosi et al. (2017) identified heterozygosity for a c.1219G-A transition in the CDH2 gene, resulting in an asp407-to-asn (D407N) substitution at a highly conserved residue within the EC3 domain. The mutation was not found in his unaffected mother or in 200 white South African control chromosomes or the Helmholtz database; however, it was present once in the 1000 Genomes database (minor allele frequency, 0.0002) and once in the ExAC database (MAF, 0.000008). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</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>.0003 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL 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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CDH2, ASP597ASN
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<br />
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SNP: rs1599011050,
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ClinVar: RCV001007453, RCV001195092, RCV001261827
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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 an 9-year-old boy (patient 2) with agenesis of the corpus callosum, tricuspid regurgitation, Duane anomaly and right ptosis, and micropenis (ACOGS; 618929), Accogli et al. (2019) identified heterozygosity for a de novo c.1789G-A transition (c.1789G-A, NM_001792.5) in the CDH2 gene, resulting in an asp597-to-asn (D597N) substitution at a highly conserved residue in the calcium-binding site within the EC4-EC5 linker region. The mutation was not found in the gnomAD database. Analysis in transfected L cells showed that cells expressing the D597N variant displayed reduced aggregation compared to wildtype N-cadherin, forming smaller aggregates and resulting in a significantly lower index of aggregation compared to wildtype. In addition, mixed aggregation assay showed that fewer mixed aggregates were formed with the D597N mutant compared to wildtype. The authors concluded that the D597N mutation impairs the cell adhesion function of N-cadherin by affecting self-binding as well as trans-binding with wildtype N-cadherin. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
|
|
</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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CDH2, ASP597TYR
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<br />
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SNP: rs1599011050,
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ClinVar: RCV001007454, RCV001195093
|
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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 an infant girl (patient 3) who died at 2 months of age with agenesis of the corpus callosum, atrioventricular canal defect, and roving eye movements with saccadic intrusions (ACOGS; 618929), Accogli et al. (2019) identified heterozygosity for a de novo c.1789G-T transversion (c.1789G-T, NM_001792.5) in the CDH2 gene, resulting in an asp597-to-tyr (D597Y) substitution at a highly conserved residue in the calcium-binding site within the EC4-EC5 linker region. The mutation was not found in the gnomAD database. At 8 weeks of life, the proband developed progressive shortness of breath with cardiomegaly, pulmonary edema, and ultimately pulseless bradycardia, for which resuscitation attempts were unsuccessful. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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CDH2, TYR676CYS
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<br />
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SNP: rs199984052,
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|
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|
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gnomAD: rs199984052,
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|
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ClinVar: RCV000991214, RCV001007458, RCV001195094, RCV001261829, RCV002462248
|
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|
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 24-year-old man (patient 7) with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; 618929), Accogli et al. (2019) identified heterozygosity for a de novo c.2027A-G transition (c.2027A-G, NM_001792.5) in the CDH2 gene, resulting in a tyr676-to-cys (Y676C) substitution at a highly conserved residue within the EC5 domain. The mutation was not found in his unaffected parents or 2 sibs, or in the gnomAD database. Analysis in transfected L cells showed that cells expressing the Y676C variant displayed reduced aggregation compared to wildtype N-cadherin, forming smaller aggregates and resulting in a significantly lower index of aggregation compared to wildtype. In addition, mixed aggregation assay showed that fewer mixed aggregates were formed with the Y676C mutant compared to wildtype. The authors concluded that the Y676C mutation impairs the cell adhesion function of N-cadherin by affecting self-binding as well as trans-binding with wildtype N-cadherin. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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CDH2, 2-BP DEL, 2563CT
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|
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<br />
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|
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SNP: rs1598982488,
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|
|
ClinVar: RCV001007459, RCV001195095, RCV001261830
|
|
|
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|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 37-year-old woman (patient 8) with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; 618929), Accogli et al. (2019) identified heterozygosity for a de novo 2-bp deletion (c.2563_2564delCT, NM_001792.5) in the CDH2 gene, causing a frameshift predicted to result in a premature termination codon (Leu855ValfsTer4) and a shortened cytoplasmic tail. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDH2, 4-BP DUP, NT2564
|
|
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|
|
|
<br />
|
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|
|
SNP: rs1598982483,
|
|
|
|
|
|
|
|
ClinVar: RCV001007460, RCV001195096, RCV001261831
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12.75-year-old boy (patient 9) with agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS; 618929), Accogli et al. (2019) identified heterozygosity for a de novo 4-bp duplication (c.2564_2567dup) in the CDH2 gene, causing a frameshift predicted to result in a premature termination codon (Leu856PhefsTer5) and a shortened cytoplasmic tail. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
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|
</div>
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|
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDH2, IVSDS, G-A, +1
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs2013040501,
|
|
|
|
|
|
|
|
ClinVar: RCV001195097, RCV002290630
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy (patient 1) with agenesis of the corpus callosum, coarctation of the aorta, and Peters anomaly (ACOGS; 618929), Reis et al. (2020) identified heterozygosity for a de novo splicing variant (c.702+1G-A) in the CDH2 gene, predicted to cause loss of the donor splice site and result in a premature termination codon. The mutation was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDH2, VAL162ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2013111940,
|
|
|
|
|
|
|
|
ClinVar: RCV001195098
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of Jamaican descent (patient 2) with agenesis of the corpus callosum, Peters anomaly, and bilateral cryptorchidism (ACOGS; 618929), who was previously reported as patient 6 by Reis et al. (2008), Reis et al. (2020) identified heterozygosity for a c.485T-A transversion in the CDH2 gene, resulting in a val162-to-asp (V162D) substitution. The mutation was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8 (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CDH2, HIS150TYR
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV004584230
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs, born of consanguineous Bedouin parents, with attention deficit-hyperactivity disorder-8 (ADHD8; 619957), Halperin et al. (2021) identified a homozygous c.355C-T transition (c.355C-T, NM_001792.4) in the CDH2 gene, resulting in a his150-to-tyr (H150Y) substitution at a highly conserved residue in the catalytic pocket of the furin protease active site. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the gnomAD database. In vitro functional expression studies showed that the mutation interfered with CDH2 protein processing, causing decreased proteolytic cleavage efficacy and defective N-cadherin protein maturation. Mutant mice with a homozygous H150Y mutation in the Cdh2 gene demonstrated motor hyperactivity, with greater traveling distance, increased velocity, and prolonged mobility time in the open-field exploratory test compared to controls. Mutant mice also showed an elevated startle amplitude in the acoustic startle reflex test (ASR) compared to controls, suggesting deficits in sensorimotor integration. Detailed analysis of the neurons from brains of mutant mice showed that homozygosity for the Cdh2 mutation was associated with a decrease in the size of the presynaptic vesicle cluster, a decrease in the readily releasable pool size of synaptic vesicles in neurons, and an attenuation of synaptic vesicle release compared to controls. The frequency of spontaneous synaptic release was also decreased compared to controls. There was reduced tyrosine hydroxylase expression and dopamine levels in the midbrain and prefrontal cortex. The authors suggested that deficits in synaptic formation due to aberrant processing of N-cadherin is the underlying mechanism for the clinical manifestations. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
</div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., Pallais, J. C., Undiagnosed Diseases Network, and 21 others.
|
|
<strong>De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum [sic], axon, cardiac, ocular, and genital defects.</strong>
|
|
Am. J. Hum. Genet. 105: 854-868, 2019.
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[PubMed: 31585109]
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[Full Text: https://doi.org/10.1016/j.ajhg.2019.09.005]
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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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Arregui, C., Pathre, P., Lilien, J., Balsamo, J.
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<strong>The nonreceptor tyrosine kinase Fer mediates cross-talk between N-cadherin and beta-1-integrins.</strong>
|
|
J. Cell Biol. 149: 1263-1273, 2000.
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[PubMed: 10851023]
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[Full Text: https://doi.org/10.1083/jcb.149.6.1263]
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<li>
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<p class="mim-text-font">
|
|
Banh, C., Fugere, C., Brossay, L.
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<strong>Immunoregulatory functions of KLRG1 cadherin interactions are dependent on forward and reverse signaling.</strong>
|
|
Blood 114: 5299-5306, 2009.
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[PubMed: 19855082]
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[Full Text: https://doi.org/10.1182/blood-2009-06-228353]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Garcia-Castro, M. I., Vielmetter, E., Bronner-Fraser, M.
|
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<strong>N-cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry.</strong>
|
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Science 288: 1047-1051, 2000.
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[PubMed: 10807574]
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[Full Text: https://doi.org/10.1126/science.288.5468.1047]
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</p>
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<li>
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<p class="mim-text-font">
|
|
Halperin, D., Stavsky, A., Kadir, R., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Proskorovski-Ohayon, R., Perez, Y., Nudelman, H., Stoler, O., Rotblat, B., Lifschytz, T., Lotan, A., Meiri, G., Gitler, D., Birk, O. S.
|
|
<strong>CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.</strong>
|
|
Nature Commun. 12: 6187, 2021.
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[PubMed: 34702855]
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[Full Text: https://doi.org/10.1038/s41467-021-26426-1]
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<li>
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<p class="mim-text-font">
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Hayashi, T., Carthew, R. W.
|
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<strong>Surface mechanics mediate pattern formation in the developing retina.</strong>
|
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Nature 431: 647-652, 2004.
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[PubMed: 15470418]
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[Full Text: https://doi.org/10.1038/nature02952]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hermiston, M. L., Gordon, J. I.
|
|
<strong>Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin.</strong>
|
|
Science 270: 1203-1206, 1995.
|
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|
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[PubMed: 7502046]
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[Full Text: https://doi.org/10.1126/science.270.5239.1203]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L.
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<strong>Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy.</strong>
|
|
Circ. Cardiovasc. Genet. 10: e001605, 2017. Note: Electronic Article.
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[PubMed: 28280076]
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[Full Text: https://doi.org/10.1161/CIRCGENETICS.116.001605]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Miyatani, S., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Takeichi, M.
|
|
<strong>Genomic structure and chromosomal mapping of the mouse N-cadherin gene.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 8443-8447, 1992.
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|
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[PubMed: 1528849]
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.89.18.8443]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Reid, R. A., Hemperly, J. J.
|
|
<strong>Human N-cadherin: nucleotide and deduced amino acid sequence.</strong>
|
|
Nucleic Acids Res. 18: 5896 only, 1990.
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|
[PubMed: 2216790]
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|
[Full Text: https://doi.org/10.1093/nar/18.19.5896]
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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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