4214 lines
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- *606268 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
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- OMIM
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<p>
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<span class="h4">*606268</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#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/606268">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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<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 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=ENSG00000135925;t=ENST00000258411" 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=80326" 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=606268" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span 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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<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=ENSG00000135925;t=ENST00000258411" 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_025216,XM_011511929,XM_011511930" 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_025216" 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=606268" 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=16207&isoform_id=16207_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/WNT10A" 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/10436732,11693042,12007358,13097663,14133263,14424011,16936520,30353945,56743958,62988788,116283847,119591065,189054698,767919971,767919973,1147161017,1170979628,2462577463,2462577465" 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/Q9GZT5" 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=80326" 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=ENSG00000135925;t=ENST00000258411" 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=WNT10A" 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=WNT10A" 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+80326" 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/WNT10A" 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:80326" 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/80326" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000258411.8&hgg_start=218874116&hgg_end=218893928&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:13829" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/wnt10a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606268[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=606268[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/WNT10A/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/ENSG00000135925" 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=WNT10A" 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=WNT10A" 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=WNT10A" 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=WNT10A&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/PA37817" 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:13829" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0031903.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:108071" 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/WNT10A#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:108071" 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/80326/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=80326" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003029;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-990415-278" 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:80326" 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=WNT10A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 403762003, 700062000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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606268
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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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WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WNT10A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WNT10A</a></em></strong>
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/2/1021?start=-3&limit=10&highlight=1021">2q35</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:218874116-218893928&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:218,874,116-218,893,928</a> </span>
|
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</em>
|
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</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>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=257980,224750,150400" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
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|
</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/2/1021?start=-3&limit=10&highlight=1021">
|
|
2q35
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ectodermal dysplasia 16 (odontoonychodermal dysplasia)
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/257980"> 257980 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Schopf-Schulz-Passarge syndrome
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/224750"> 224750 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
Tooth agenesis, selective, 4
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/150400"> 150400 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>The WNT gene family consists of structurally related genes encoding secreted signaling molecules that have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. For general information about WNT genes, see WNT1 (<a href="/entry/164820">164820</a>).</p>
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<p>By searching for sequences homologous to the mouse Wnt10b sequence (<a href="/entry/601906">601906</a>), <a href="#6" class="mim-tip-reference" title="Kirikoshi, H., Sekihara, H., Katoh, M. <strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong> Biochem. Biophys. Res. Commun. 283: 798-805, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350055</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350055">Kirikoshi et al. (2001)</a> identified WNT10A in human chromosome 2 draft sequence and assembled a cDNA sequence using PCR techniques. WNT10A encodes a deduced 417-amino acid peptide containing residues conserved among WNTs and 2 N-linked glycosylation sites. WNT10A shares 59.2% amino acid sequence identity with human WNT10B. Using Northern blot analysis, <a href="#6" class="mim-tip-reference" title="Kirikoshi, H., Sekihara, H., Katoh, M. <strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong> Biochem. Biophys. Res. Commun. 283: 798-805, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350055</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350055">Kirikoshi et al. (2001)</a> detected 3.0- and 2.4-kb WNT10A transcripts at moderate levels in fetal kidney, placenta, and adult spleen and at low levels in fetal lung, adult kidney, prostate, and ovary. They detected WNT10A overexpression in human cancer cell lines, including HL-60 (promyelocytic leukemia), Raji (Burkitt lymphoma), and SW480 (colorectal cancer), where it was coexpressed with WNT6 (<a href="/entry/604663">604663</a>). <a href="#6" class="mim-tip-reference" title="Kirikoshi, H., Sekihara, H., Katoh, M. <strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong> Biochem. Biophys. Res. Commun. 283: 798-805, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350055</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350055">Kirikoshi et al. (2001)</a> hypothesized that, like WNT1 and WNT10B, WNT10A and WNT6 may play key roles in human carcinogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11350055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using sequence analysis, <a href="#6" class="mim-tip-reference" title="Kirikoshi, H., Sekihara, H., Katoh, M. <strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong> Biochem. Biophys. Res. Commun. 283: 798-805, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350055</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350055">Kirikoshi et al. (2001)</a> determined that the WNT10A gene contains 4 exons and is clustered with WNT6 (<a href="/entry/604663">604663</a>) in a head-to-tail manner with an interval of less than 7 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11350055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using genomic sequence analysis, <a href="#6" class="mim-tip-reference" title="Kirikoshi, H., Sekihara, H., Katoh, M. <strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong> Biochem. Biophys. Res. Commun. 283: 798-805, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350055</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350055">Kirikoshi et al. (2001)</a> mapped the WNT10A gene to chromosome 2q35 near the WNT6 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11350055" 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>Odontoonychodermal Dysplasia</em></strong></p><p>
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Odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>) is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma, and hyperhidrosis. <a href="#1" class="mim-tip-reference" title="Adaimy, L., Chouery, E., Megarbane, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., Megarbane, A. <strong>Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.</strong> Am. J. Hum. Genet. 81: 821-828, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/520064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847007">Adaimy et al. (2007)</a> studied 3 consanguineous Lebanese Muslim Shiite families that included 6 individuals affected with OODD. Screening of genes within the candidate region on chromosome 2q35-q36.2 led to identification of the same homozygous glu233-to-stop nonsense mutation in exon 3 of the WNT10A gene (<a href="#0001">606268.0001</a>) in all patients. The authors stated that this was the first report of a human phenotype resulting from a mutation in WNT10A, and the first demonstration of an ectodermal dysplasia (ED) caused by an altered WNT signaling pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17847007" 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 12 patients from 11 unrelated families of German and Turkish origin with ectodermal dysplasia, who were known to be negative for mutation in the ectodysplasin-A gene (EDA; <a href="/entry/300451">300451</a>), <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> identified homozygosity or compound heterozygosity for 3 missense and 2 nonsense mutations in the WNT10A gene (<a href="#0002">606268.0002</a>-<a href="#0006">606268.0006</a>, respectively). A brother and sister from 1 family had oligodontia and sparse body hair and eyebrows as their only manifestations (STHAG4; <a href="/entry/150400">150400</a>), and a female proband from another family had cysts of the eyelids in addition to hypodontia, hypotrichosis, palmoplantar keratosis, and dystrophic nails (SSPS; <a href="/entry/224750">224750</a>). Despite the high degree of variability in phenotypic expression, <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> stated that there was no recognizable genotype/phenotype correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Indian sibs with OODD, <a href="#9" class="mim-tip-reference" title="Xu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., and 13 others. <strong>WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.</strong> Nature Commun. 8: 15397, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28589954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28589954</a>] [<a href="https://doi.org/10.1038/ncomms15397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28589954">Xu et al. (2017)</a> identified homozygosity for a splice site mutation in the WNT10A gene (<a href="#0010">606268.0010</a>). Both parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28589954" 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 sequencing the WNT10A gene in 4 unrelated patients with a clinical diagnosis of OODD, <a href="#11" class="mim-tip-reference" title="Yu, M., Liu, Y., Liu, H., Wong, S.-W., He, H., Zhang, X., Wang, Y., Han, D., Feng, H. <strong>Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.</strong> Am. J. Med. Genet. 179A: 57-64, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30569517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30569517</a>] [<a href="https://doi.org/10.1002/ajmg.a.60682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30569517">Yu et al. (2019)</a> identified 5 novel mutations in the WNT10A gene (see, e.g., <a href="#0011">606268.0011</a>-<a href="#0013">606268.0013</a>). The mutations segregated with the disorder in the families for which parental DNA was available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30569517" 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>Selective Tooth Agenesis 4</em></strong></p><p>
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In an American family with variable hypodontia involving the lateral incisors and premolar teeth (STHAG4; <a href="/entry/150400">150400</a>), <a href="#5" class="mim-tip-reference" title="Kantaputra, P., Sripathomsawat, W. <strong>WNT10A and isolated hypodontia.</strong> Am. J. Med. Genet. 155A: 1119-1122, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484994</a>] [<a href="https://doi.org/10.1002/ajmg.a.33840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21484994">Kantaputra and Sripathomsawat (2011)</a> analyzed the candidate gene WNT10A and identified 2 different missense mutations, F228I (<a href="#0003">606268.0003</a>) and D217N (<a href="#0007">606268.0007</a>), for which affected members were heterozygous or compound heterozygous. None of the family members had other manifestations of ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484994" 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="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">Van den Boogaard et al. (2012)</a> identified WNT10A mutations in 19 (56%) of 34 unrelated patients with nonsyndromic tooth agenesis (see, e.g., <a href="#0002">606268.0002</a>-<a href="#0004">606268.0004</a>), 8 of whom were homozygous, 4 compound heterozygous, and 7 heterozygous for the mutations. The most frequent mutation, F228I (<a href="#0003">606268.0003</a>), represented 62% of the WNT10A mutations in these nonsyndromic hypodontia patients, a frequency that was significantly higher (OR, 17.9; p less than 0.05) than the frequency of F228I observed in unselected controls (2.3%). The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">Van den Boogaard et al. (2012)</a> also identified homozygosity, heterozygosity, or compound heterozygosity for the C107X (<a href="#0002">606268.0002</a>) and F228I mutations in 11 patients with tooth agenesis who had mild features of ectodermal dysplasia, but did not exhibit the characteristic features of OODD. Overall, no specific pattern of tooth agenesis was observed for WNT10A mutation carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581971" 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 16 probands with features of ectodermal dysplasia referred with tooth agenesis and features of ED, <a href="#7" class="mim-tip-reference" title="Plaisancie, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., and 10 others. <strong>Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.</strong> Am. J. Med. Genet. 161A: 671-678, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23401279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23401279</a>] [<a href="https://doi.org/10.1002/ajmg.a.35747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23401279">Plaisancie et al. (2013)</a> identified heterozygosity, homozygosity, or compound heterozygosity for mutations in WNT10A. The C107X and F228I mutations represented 43% and 18% of the detected WNTA10A variants, respectively. The authors observed associated features of ED in 15 of the 16 patients with WNT10A mutations; noting that ED features were present in only 11 of the 30 patients studied by <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a>, <a href="#7" class="mim-tip-reference" title="Plaisancie, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., and 10 others. <strong>Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.</strong> Am. J. Med. Genet. 161A: 671-678, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23401279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23401279</a>] [<a href="https://doi.org/10.1002/ajmg.a.35747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23401279">Plaisancie et al. (2013)</a> suggested that this reflected different methods of recruitment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22581971+23401279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a population-based cohort of 94 Swedish families including 102 individuals with nonsyndromic tooth agenesis (mean of 8.2 missing teeth), <a href="#2" class="mim-tip-reference" title="Arzoo, P. S., Klar, J., Bergendal, B., Norderyd, J., Dahl, N. <strong>WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations.</strong> Am. J. Med. Genet. 164A: 353-359, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24449199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24449199</a>] [<a href="https://doi.org/10.1002/ajmg.a.36243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24449199">Arzoo et al. (2014)</a> identified 26 probands (27.7%) with mutation in the WNT10A gene, 17 of whom had monoallelic mutations and 11 biallelic mutations. Individuals with biallelic mutations had a higher number of missing teeth (mean, 11.1) than did those with monoallelic mutations (mean, 6.8). Upper and lower premolars were the most common type of missing teeth (59.7% of all missing teeth). Probands with biallelic mutations had a higher frequency of absent maxillary and mandibular molars (p = 3.63 x 10(-6)) and mandibular central incisors (p = 6.91 x 10(-3)). There were no differences in type or number of missing teeth between males and females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24449199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 of 9 unrelated Thai patients with agenesis or isolated hypodontia of the maxillary permanent canines, <a href="#4" class="mim-tip-reference" title="Kantaputra, P., Kaewgahya, M., Kantaputra, W. <strong>WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.</strong> Am. J. Med. Genet. 164A: 360-363, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311251</a>] [<a href="https://doi.org/10.1002/ajmg.a.36280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24311251">Kantaputra et al. (2014)</a> identified 3 different heterozygous mutations in the WNT10A gene (see, e.g., <a href="#0009">606268.0009</a>). One of the affected individuals also had pegged maxillary permanent lateral incisors with dens invaginatus. Two mothers of the patients carried the mutation and had pegged maxillary permanent lateral incisors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311251" 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="Yang, J., Wang, S.-K., Choi, M., Reid, B. M., Hu, Y., Lee, T.-L., Herzog, C. R., Kim-Berman, H., Lee, M., Benke, P. J., Llyod, K. C. K., Simmer, J. P., Hu, J. C.-C. <strong>Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.</strong> Molec. Genet. Genomic Med. 3: 40-58, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25629078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25629078</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25629078[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/mgg3.111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25629078">Yang et al. (2015)</a> found that Wnt10a-null mice generated by the knockout mouse project (KOMP) exhibited supernumerary mandibular fourth molars, smaller molars with abnormal cusp patterning, root taurodontism, reduced volume of dentin, pulp calcification, molar crown dysmorphologies, and increased risk of root resorption following tooth development and eruption. The total tooth volume of the Wnt10a-null first mandibular molars averaged 71% of the wildtype. The enamel, dentin, and pulp volumes averaged 87%, 67%, and 84% of those of the wildtype molars, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25629078" 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="#9" class="mim-tip-reference" title="Xu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., and 13 others. <strong>WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.</strong> Nature Commun. 8: 15397, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28589954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28589954</a>] [<a href="https://doi.org/10.1038/ncomms15397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28589954">Xu et al. (2017)</a> generated a conditional Wnt10a knockout mouse and studied developmental and tissue specific functional roles of Wnt10a. Wnt10a-deficient mice exhibited region-specific tongue and palmoplantar abnormalities, decreased sweat duct basal proliferation, and decreased basal proliferation of fungiform and circumvallate taste buds. <a href="#9" class="mim-tip-reference" title="Xu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., and 13 others. <strong>WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.</strong> Nature Commun. 8: 15397, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28589954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28589954</a>] [<a href="https://doi.org/10.1038/ncomms15397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28589954">Xu et al. (2017)</a> demonstrated that the absence of Wnt10a led to decreased activity in beta-catenin pathways and reduced adult epithelial progenitor cell proliferation. The authors concluded that WNT10A/beta-catenin signaling controls progenitor cell proliferation in diverse epithelia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28589954" 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 affected members from 3 families with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), <a href="#1" class="mim-tip-reference" title="Adaimy, L., Chouery, E., Megarbane, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., Megarbane, A. <strong>Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.</strong> Am. J. Hum. Genet. 81: 821-828, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/520064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17847007">Adaimy et al. (2007)</a> demonstrated homozygosity for the same nonsense mutation in the WNT10A gene. A 697G-T transversion in exon 3 causes substitution of a stop codon for the negatively charged glu233 (E233X), resulting in a prematurely truncated protein of 232 amino acids instead of 417 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17847007" 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=RCV000004715 OR RCV000004716 OR RCV000030650 OR RCV000190800 OR RCV000255732 OR RCV000477935 OR RCV000536747 OR RCV000779308 OR RCV001729335 OR RCV002247247" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004715, RCV000004716, RCV000030650, RCV000190800, RCV000255732, RCV000477935, RCV000536747, RCV000779308, RCV001729335, RCV002247247" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004715...</a>
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<p>In affected members of 3 families with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>) and 1 proband of a family with Schopf-Schulz-Passarge syndrome (SPSS; <a href="/entry/224750">224750</a>), <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> identified homozygosity for a 321C-A transversion in the WNT10A gene, resulting in a cys107-to-ter (C107X) substitution that was not found in 200 control chromosomes. In 2 additional probands with OODD, the C107X mutation was found in compound heterozygosity with a phe228-to-ile (F228I; <a href="#0003">606268.0003</a>) mutation, and in a brother and sister who had oligodontia and sparse body hair and eyebrows as their only manifestations, the C107X mutation was found in compound heterozygosity with an arg128-to-gln (R128Q; <a href="#0004">606268.0004</a>) mutation. Of 18 heterozygous carriers of the C107X mutation, 10 exhibited some phenotypic manifestation, including anomalies of teeth, skin, and nails. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with nonsyndromic tooth agenesis (STHAG4; <a href="/entry/150400">150400</a>), <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a> identified heterozygosity for the C107X mutation in the WNT10A gene; in 3 other patients, the mutation was present in compound heterozygosity with the F228I mutation. In addition, <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a> identified mutations in the C107X mutation in 6 patients with tooth agenesis who had mild features of ectodermal dysplasia, but who did not exhibit the characteristic features of OODD; 2 were heterozygous, 1 was homozygous, and 3 were compound heterozygous for C207X and F228I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581971" 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 probands with tooth agenesis and features of ectodermal dysplasia, <a href="#7" class="mim-tip-reference" title="Plaisancie, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., and 10 others. <strong>Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.</strong> Am. J. Med. Genet. 161A: 671-678, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23401279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23401279</a>] [<a href="https://doi.org/10.1002/ajmg.a.35747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23401279">Plaisancie et al. (2013)</a> identified the C107X mutation in the WNT10A gene, present in homozygosity in 1 patient and in compound heterozygosity in 3 patients, including with the F228I mutation in 1 proband. In the latter family, the proband's unaffected father and mother were each heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23401279" 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> rs121908120 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908120;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/rs121908120?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=rs121908120" 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=rs121908120" 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=RCV000004717 OR RCV000255788 OR RCV000445356 OR RCV000550721 OR RCV000622932 OR RCV000754840 OR RCV000845113 OR RCV001535660 OR RCV001729336 OR RCV001813948 OR RCV002464974 OR RCV004528071 OR RCV004584315" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004717, RCV000255788, RCV000445356, RCV000550721, RCV000622932, RCV000754840, RCV000845113, RCV001535660, RCV001729336, RCV001813948, RCV002464974, RCV004528071, RCV004584315" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004717...</a>
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<p>In 2 probands with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> identified homozygosity for a 682T-A transversion in the WNT10A gene, resulting in a phe228-to-ile (F228I) substitution at an evolutionarily conserved residue. In 2 additional probands with OODD, the F228I mutation was found in compound heterozygosity with the C107X mutation (<a href="#0002">606268.0002</a>). The F228I mutation was not found in 200 control chromosomes. Of 15 heterozygous carriers of the F228I mutation, 7 exhibited some phenotypic manifestation, including anomalies of teeth, skin, hair, and nails. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559398" 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 the affected father and eldest son from an American family with variable hypodontia involving lateral incisors and premolar teeth (STHAG4; <a href="/entry/150400">150400</a>), <a href="#5" class="mim-tip-reference" title="Kantaputra, P., Sripathomsawat, W. <strong>WNT10A and isolated hypodontia.</strong> Am. J. Med. Genet. 155A: 1119-1122, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484994</a>] [<a href="https://doi.org/10.1002/ajmg.a.33840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21484994">Kantaputra and Sripathomsawat (2011)</a> identified heterozygosity for the F228I mutation in the WNT10A gene. Another affected son, who had only microdontia of the left mandibular second premolar, was compound heterozygous for F228I and a 649G-A transition in exon 3 of the WNT10A gene, resulting in an asp217-to-asn (D217N; <a href="#0007">606268.0007</a>) substitution, which he had inherited from his unaffected mother, who had normal dentition. The D217N mutation was also present in heterozygosity in another affected son, who had absence of the maxillary permanent lateral incisors, mandibular second premolars, and a mandibular permanent lateral incisor. Examination of the family members revealed no other manifestations of ectodermal dysplasia. Neither mutation was found in 200 control chromosomes from individuals with normal dentition from a Thai DNA bank registry or in 400 Swedish and 400 Pakistani control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484994" 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 13 patients with nonsyndromic tooth agenesis, <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a> identified the F228I mutation in the WNT10A gene; the mutation was homozygous in 7 patients, heterozygous in 2 patients, and compound heterozygous with C107X in 3 patients and with G95K (<a href="#0008">606268.0008</a>) in 1 patient. The authors noted that F228I was found in unselected controls at an allele frequency of 2.3%, reflecting the high prevalence of tooth agenesis in the general population. In addition, <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a> identified heterozygosity, homozygosity, or compound heterozygosity for the F228I mutation in 8 patients with tooth agenesis who had mild features of ectodermal dysplasia, but did not exhibit the characteristic features of OODD; 2 were heterozygous, 2 were homozygous, 3 were compound heterozygous for C207X and F228I, and 1 was compound heterozygous for C208X and a W277C mutation in WNT10A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581971" 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 8 probands with tooth agenesis, 7 of whom also exhibited features of ectodermal dysplasia, <a href="#7" class="mim-tip-reference" title="Plaisancie, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., and 10 others. <strong>Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.</strong> Am. J. Med. Genet. 161A: 671-678, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23401279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23401279</a>] [<a href="https://doi.org/10.1002/ajmg.a.35747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23401279">Plaisancie et al. (2013)</a> identified the F228I mutation in the WNT10A gene, present in heterozygosity in 2 patients, in homozygosity in 3 patients, and in compound heterozygosity with another WNT10A variant in 3 patients. Of the 3 patients homozygous for F228I, 1 had severe tooth agenesis without other associated features, whereas the other 2 probands had tooth agenesis, conical teeth, and thin nails, as well as short stature in 1 of them and thick hair in the other. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23401279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a population-based study of 102 Swedish individuals with nonsyndromic tooth agenesis, <a href="#2" class="mim-tip-reference" title="Arzoo, P. S., Klar, J., Bergendal, B., Norderyd, J., Dahl, N. <strong>WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations.</strong> Am. J. Med. Genet. 164A: 353-359, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24449199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24449199</a>] [<a href="https://doi.org/10.1002/ajmg.a.36243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24449199">Arzoo et al. (2014)</a> identified the F228I variant in the WNT10A gene as the most prevalent variant in their cohort. It represented 13.3% of all oligodontia alleles and was found in 21 of 94 probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24449199" 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> rs121908121 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908121;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/rs121908121?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=rs121908121" 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=rs121908121" 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 brother and sister with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), who had oligodontia and sparse body hair and eyebrows as their only manifestations, <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> identified compound heterozygosity for a 383G-A transition in the WNT10A gene, resulting in an arg128-to-gln (R128Q) substitution at an evolutionarily conserved residue, and the C107X mutation (<a href="#0002">606268.0002</a>). Of 2 family members who were heterozygous carriers of the R128Q mutation, 1 was noted to have sparse eyebrows. The R128Q mutation was found in 2 of 396 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with nonsyndromic tooth agenesis (STHAG4; <a href="/entry/150400">150400</a>), <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a> identified heterozygosity for the R128Q mutation in the WNT10A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ODONTOONYCHODERMAL DYSPLASIA</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">rs121908122 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908122;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=rs121908122" 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=rs121908122" 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=RCV000004719 OR RCV003764526" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004719, RCV003764526" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004719...</a>
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<p>In 2 sisters with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> identified homozygosity for a 1128C-A transversion in the WNT10A gene, resulting in a cys376-to-ter (C376X) substitution that was not found in 200 control chromosomes. Their unaffected father was a heterozygous carrier; their mother was deceased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ODONTOONYCHODERMAL DYSPLASIA</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">rs121908123 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908123;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=rs121908123" 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=rs121908123" 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 female proband with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), born of first-cousin parents, <a href="#3" class="mim-tip-reference" title="Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A. <strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong> Am. J. Hum. Genet. 85: 97-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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.2009.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19559398">Bohring et al. (2009)</a> identified homozygosity for a 27G-A transition in the WNT10A gene, resulting in a trp9-to-ter (W9X) substitution that was not found in 200 control chromosomes. Her parents and a maternal aunt, who were heterozygous for the mutation, had anomalies of the teeth, nails, and hair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19559398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 TOOTH AGENESIS, SELECTIVE, 4</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> rs146902156 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146902156;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/rs146902156?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=rs146902156" 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=rs146902156" 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=RCV000023530 OR RCV000059804 OR RCV000271824 OR RCV000322248 OR RCV002247385 OR RCV002513192" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023530, RCV000059804, RCV000271824, RCV000322248, RCV002247385, RCV002513192" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023530...</a>
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<p>For discussion of the asp217-to-asn (D217N) mutation in the WNT10A gene that was found in compound heterozygous state in patients with variable hypodontia involving lateral incisors and premolar teeth (STHAG4; <a href="/entry/150400">150400</a>) by <a href="#5" class="mim-tip-reference" title="Kantaputra, P., Sripathomsawat, W. <strong>WNT10A and isolated hypodontia.</strong> Am. J. Med. Genet. 155A: 1119-1122, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484994</a>] [<a href="https://doi.org/10.1002/ajmg.a.33840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21484994">Kantaputra and Sripathomsawat (2011)</a>, see <a href="#0003">606268.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484994" 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> rs318240759 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs318240759;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/rs318240759?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=rs318240759" 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=rs318240759" 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=RCV000059802 OR RCV000811807 OR RCV001275113 OR RCV002292375 OR RCV004542736" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000059802, RCV000811807, RCV001275113, RCV002292375, RCV004542736" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000059802...</a>
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<p>In a patient with nonsyndromic tooth agenesis (STHAG4; <a href="/entry/150400">150400</a>), <a href="#8" class="mim-tip-reference" title="van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K. <strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong> J. Med. Genet. 49: 327-331, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581971">van den Boogaard et al. (2012)</a> identified compound heterozygosity for 2 mutations in the WNT10A gene: gly95-to-lys (G95K) and F228I (<a href="#0003">606268.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581971" 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 TOOTH AGENESIS, SELECTIVE, 4</strong>
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WNT10A, GLY213SER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147680216;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs147680216</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs147680216 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147680216;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/rs147680216?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=rs147680216" 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=rs147680216" 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=RCV000128463 OR RCV000270809 OR RCV000325824 OR RCV000490390 OR RCV000845115 OR RCV001555273 OR RCV003233110 OR RCV004734670" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000128463, RCV000270809, RCV000325824, RCV000490390, RCV000845115, RCV001555273, RCV003233110, RCV004734670" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000128463...</a>
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<p>In 4 unrelated Thai patients with agenesis of the maxillary permanent canines (STHAG4; <a href="/entry/150400">150400</a>), <a href="#4" class="mim-tip-reference" title="Kantaputra, P., Kaewgahya, M., Kantaputra, W. <strong>WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.</strong> Am. J. Med. Genet. 164A: 360-363, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311251</a>] [<a href="https://doi.org/10.1002/ajmg.a.36280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24311251">Kantaputra et al. (2014)</a> identified a heterozygous A-to-G transition in the WNT10A gene, resulting in a gly213-to-ser (G213S; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147680216;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs147680216</a>) substitution. The mother of one of the patients carried the mutation and had peg-shaped maxillary lateral incisors. One of 100 Thai controls also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311251" 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">rs1944637150 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1944637150;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=rs1944637150" 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=rs1944637150" 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=RCV001194666" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001194666" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001194666</a>
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<p>In 2 Indian sibs with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), <a href="#9" class="mim-tip-reference" title="Xu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., and 13 others. <strong>WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.</strong> Nature Commun. 8: 15397, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28589954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28589954</a>] [<a href="https://doi.org/10.1038/ncomms15397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28589954">Xu et al. (2017)</a> identified homozygosity for a splice site mutation (c.756+1G-A) in intron 3 of the WNT10A gene. The parents were heterozygous for the mutation. qPCR in hair samples from one of the sibs showed the presence of normally spliced exon 1 and exon 2 transcripts but a significant decrease in transcripts resulting from splicing of intron 3. The predicted protein product is truncated after amino acid 252, resulting in absence of part of the conserved C terminus necessary for disulfide bridge formation, Wnt protein secondary structure, and binding to Frizzled receptors (see <a href="/entry/603408">603408</a>). The sibs had conical primary teeth, failure to develop permanent teeth, alopecia, and palmoplantar scaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28589954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 ODONTOONYCHODERMAL DYSPLASIA</strong>
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WNT10A, ARG248TER
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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> rs886039453 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886039453;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/rs886039453?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=rs886039453" 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=rs886039453" 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=RCV000254848 OR RCV000677100 OR RCV000823047 OR RCV001266421 OR RCV001275115 OR RCV004535236" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000254848, RCV000677100, RCV000823047, RCV001266421, RCV001275115, RCV004535236" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000254848...</a>
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<p>In a 14-year-old girl (patient 20-32), born of consanguineous parents, with a clinical diagnosis of odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), <a href="#11" class="mim-tip-reference" title="Yu, M., Liu, Y., Liu, H., Wong, S.-W., He, H., Zhang, X., Wang, Y., Han, D., Feng, H. <strong>Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.</strong> Am. J. Med. Genet. 179A: 57-64, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30569517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30569517</a>] [<a href="https://doi.org/10.1002/ajmg.a.60682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30569517">Yu et al. (2019)</a> identified homozygosity for a c.742C-T transition in the WNT10A gene, resulting in an arg248-to-ter (R248X) substitution. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the parents and a healthy sib. It was not present in 200 healthy controls. The patient had dry skin, hypohidrosis, dystrophic nails, widely spaced primary dentition with absence of 5 deciduous teeth, and complete absence of permanent teeth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30569517" 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="0012" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0012 ODONTOONYCHODERMAL DYSPLASIA</strong>
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WNT10A, CYS276SER
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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> rs1011303295 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1011303295;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/rs1011303295?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=rs1011303295" 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=rs1011303295" 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=RCV000677102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677102</a>
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<p>In a 9-year-old girl (patient 14-43) with a clinical diagnosis of odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>), <a href="#11" class="mim-tip-reference" title="Yu, M., Liu, Y., Liu, H., Wong, S.-W., He, H., Zhang, X., Wang, Y., Han, D., Feng, H. <strong>Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.</strong> Am. J. Med. Genet. 179A: 57-64, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30569517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30569517</a>] [<a href="https://doi.org/10.1002/ajmg.a.60682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30569517">Yu et al. (2019)</a> identified compound heterozygous mutations in the WNT10A gene: a c.826T-A transversion (c.826T-A, NM_025216.2), resulting in a cys276-to-ser (C276S) substitution, and a 1-bp deletion (c.949delG; <a href="#0015">606268.0015</a>), resulting in a frameshift and a premature termination codon (Ala317HisfsTer121). The mutations were identified by Sanger sequencing. The parents were each heterozygous for one of the mutations. Neither mutation was present in 200 healthy controls. The patient had absence of permanent dentition, sparse body hair, palmoplantar keratodermas, and hypohidrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30569517" 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>.0013 ODONTOONYCHODERMAL DYSPLASIA</strong>
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WNT10A, 1-BP DEL, 949G
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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> rs775990266 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs775990266;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/rs775990266?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=rs775990266" 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=rs775990266" 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=RCV000677103 OR RCV001868287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677103, RCV001868287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677103...</a>
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<p>For discussion of the 1-bp deletion (c.949delG, NM_025216.2) in the WNT10A gene that was identified in compound heterozygous state in a patient with odontoonychodermal dysplasia (OODD; <a href="/entry/257980">257980</a>) by <a href="#11" class="mim-tip-reference" title="Yu, M., Liu, Y., Liu, H., Wong, S.-W., He, H., Zhang, X., Wang, Y., Han, D., Feng, H. <strong>Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.</strong> Am. J. Med. Genet. 179A: 57-64, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30569517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30569517</a>] [<a href="https://doi.org/10.1002/ajmg.a.60682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30569517">Yu et al. (2019)</a>, see <a href="/entry/606260#0012">606260.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30569517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Adaimy2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Adaimy, L., Chouery, E., Megarbane, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., Megarbane, A.
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<strong>Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.</strong>
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Am. J. Hum. Genet. 81: 821-828, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17847007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17847007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17847007[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=17847007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/520064" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Arzoo2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Arzoo, P. S., Klar, J., Bergendal, B., Norderyd, J., Dahl, N.
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<strong>WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations.</strong>
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Am. J. Med. Genet. 164A: 353-359, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24449199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24449199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24449199" 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.36243" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Bohring2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A.
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<strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong>
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Am. J. Hum. Genet. 85: 97-105, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19559398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19559398</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19559398[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=19559398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.06.001" target="_blank">Full Text</a>]
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<a id="Kantaputra2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kantaputra, P., Kaewgahya, M., Kantaputra, W.
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<strong>WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.</strong>
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Am. J. Med. Genet. 164A: 360-363, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311251" 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.36280" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Kantaputra2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kantaputra, P., Sripathomsawat, W.
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<strong>WNT10A and isolated hypodontia.</strong>
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Am. J. Med. Genet. 155A: 1119-1122, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21484994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21484994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21484994" 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.33840" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Kirikoshi2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kirikoshi, H., Sekihara, H., Katoh, M.
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<strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong>
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Biochem. Biophys. Res. Commun. 283: 798-805, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11350055" 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/bbrc.2001.4855" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Plaisancie2013" class="mim-anchor"></a>
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<div class="">
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Plaisancie, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., and 10 others.
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<strong>Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.</strong>
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Am. J. Med. Genet. 161A: 671-678, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23401279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23401279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23401279" 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.35747" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="van den Boogaard2012" class="mim-anchor"></a>
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<div class="">
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van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K.
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<strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong>
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J. Med. Genet. 49: 327-331, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2012-100750" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Xu2017" class="mim-anchor"></a>
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Xu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., and 13 others.
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<strong>WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.</strong>
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Nature Commun. 8: 15397, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28589954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28589954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28589954" 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/ncomms15397" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Yang2015" class="mim-anchor"></a>
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Yang, J., Wang, S.-K., Choi, M., Reid, B. M., Hu, Y., Lee, T.-L., Herzog, C. R., Kim-Berman, H., Lee, M., Benke, P. J., Llyod, K. C. K., Simmer, J. P., Hu, J. C.-C.
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<strong>Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.</strong>
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Molec. Genet. Genomic Med. 3: 40-58, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25629078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25629078</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25629078[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=25629078" 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/mgg3.111" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Yu2019" class="mim-anchor"></a>
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Yu, M., Liu, Y., Liu, H., Wong, S.-W., He, H., Zhang, X., Wang, Y., Han, D., Feng, H.
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<strong>Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.</strong>
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Am. J. Med. Genet. 179A: 57-64, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30569517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30569517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30569517" 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.60682" target="_blank">Full Text</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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Hilary J. Vernon - updated : 06/22/2020
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 03/06/2017<br>Joanna S. Amberger - updated : 07/27/2016<br>Ingrid M. Wentzensen - updated : 7/2/2014<br>Marla J. F. O'Neill - updated : 8/9/2012<br>Marla J. F. O'Neill - updated : 6/30/2011<br>Marla J. F. O'Neill - updated : 7/30/2009<br>Victor A. McKusick - updated : 10/3/2007
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Creation Date:
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<span class="mim-text-font">
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Dawn Watkins-Chow : 9/19/2001
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carol : 06/23/2020
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carol : 06/22/2020<br>carol : 03/06/2017<br>joanna : 08/16/2016<br>carol : 07/28/2016<br>carol : 07/27/2016<br>alopez : 04/22/2015<br>mcolton : 4/16/2015<br>carol : 7/2/2014<br>carol : 7/2/2014<br>carol : 3/8/2013<br>carol : 8/9/2012<br>terry : 8/9/2012<br>wwang : 7/13/2011<br>terry : 6/30/2011<br>wwang : 8/19/2009<br>terry : 7/30/2009<br>alopez : 10/10/2007<br>terry : 10/3/2007<br>carol : 9/20/2001
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<strong>*</strong> 606268
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WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A
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<strong><em>HGNC Approved Gene Symbol: WNT10A</em></strong>
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<strong>SNOMEDCT:</strong> 403762003, 700062000;
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q35
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:218,874,116-218,893,928 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
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
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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|
</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
|
<td rowspan="3">
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<span class="mim-font">
|
|
2q35
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</span>
|
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</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Ectodermal dysplasia 16 (odontoonychodermal dysplasia)
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
257980
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|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Schopf-Schulz-Passarge syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
224750
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
Tooth agenesis, selective, 4
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
150400
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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|
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|
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</tbody>
|
|
</table>
|
|
</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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|
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
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|
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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|
<p>The WNT gene family consists of structurally related genes encoding secreted signaling molecules that have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. For general information about WNT genes, see WNT1 (164820).</p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By searching for sequences homologous to the mouse Wnt10b sequence (601906), Kirikoshi et al. (2001) identified WNT10A in human chromosome 2 draft sequence and assembled a cDNA sequence using PCR techniques. WNT10A encodes a deduced 417-amino acid peptide containing residues conserved among WNTs and 2 N-linked glycosylation sites. WNT10A shares 59.2% amino acid sequence identity with human WNT10B. Using Northern blot analysis, Kirikoshi et al. (2001) detected 3.0- and 2.4-kb WNT10A transcripts at moderate levels in fetal kidney, placenta, and adult spleen and at low levels in fetal lung, adult kidney, prostate, and ovary. They detected WNT10A overexpression in human cancer cell lines, including HL-60 (promyelocytic leukemia), Raji (Burkitt lymphoma), and SW480 (colorectal cancer), where it was coexpressed with WNT6 (604663). Kirikoshi et al. (2001) hypothesized that, like WNT1 and WNT10B, WNT10A and WNT6 may play key roles in human carcinogenesis. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>Using sequence analysis, Kirikoshi et al. (2001) determined that the WNT10A gene contains 4 exons and is clustered with WNT6 (604663) in a head-to-tail manner with an interval of less than 7 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using genomic sequence analysis, Kirikoshi et al. (2001) mapped the WNT10A gene to chromosome 2q35 near the WNT6 gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Odontoonychodermal Dysplasia</em></strong></p><p>
|
|
Odontoonychodermal dysplasia (OODD; 257980) is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma, and hyperhidrosis. Adaimy et al. (2007) studied 3 consanguineous Lebanese Muslim Shiite families that included 6 individuals affected with OODD. Screening of genes within the candidate region on chromosome 2q35-q36.2 led to identification of the same homozygous glu233-to-stop nonsense mutation in exon 3 of the WNT10A gene (606268.0001) in all patients. The authors stated that this was the first report of a human phenotype resulting from a mutation in WNT10A, and the first demonstration of an ectodermal dysplasia (ED) caused by an altered WNT signaling pathway. </p><p>In 12 patients from 11 unrelated families of German and Turkish origin with ectodermal dysplasia, who were known to be negative for mutation in the ectodysplasin-A gene (EDA; 300451), Bohring et al. (2009) identified homozygosity or compound heterozygosity for 3 missense and 2 nonsense mutations in the WNT10A gene (606268.0002-606268.0006, respectively). A brother and sister from 1 family had oligodontia and sparse body hair and eyebrows as their only manifestations (STHAG4; 150400), and a female proband from another family had cysts of the eyelids in addition to hypodontia, hypotrichosis, palmoplantar keratosis, and dystrophic nails (SSPS; 224750). Despite the high degree of variability in phenotypic expression, Bohring et al. (2009) stated that there was no recognizable genotype/phenotype correlation. </p><p>In 2 Indian sibs with OODD, Xu et al. (2017) identified homozygosity for a splice site mutation in the WNT10A gene (606268.0010). Both parents were heterozygous for the mutation. </p><p>By sequencing the WNT10A gene in 4 unrelated patients with a clinical diagnosis of OODD, Yu et al. (2019) identified 5 novel mutations in the WNT10A gene (see, e.g., 606268.0011-606268.0013). The mutations segregated with the disorder in the families for which parental DNA was available for testing. </p><p><strong><em>Selective Tooth Agenesis 4</em></strong></p><p>
|
|
In an American family with variable hypodontia involving the lateral incisors and premolar teeth (STHAG4; 150400), Kantaputra and Sripathomsawat (2011) analyzed the candidate gene WNT10A and identified 2 different missense mutations, F228I (606268.0003) and D217N (606268.0007), for which affected members were heterozygous or compound heterozygous. None of the family members had other manifestations of ectodermal dysplasia. </p><p>Van den Boogaard et al. (2012) identified WNT10A mutations in 19 (56%) of 34 unrelated patients with nonsyndromic tooth agenesis (see, e.g., 606268.0002-606268.0004), 8 of whom were homozygous, 4 compound heterozygous, and 7 heterozygous for the mutations. The most frequent mutation, F228I (606268.0003), represented 62% of the WNT10A mutations in these nonsyndromic hypodontia patients, a frequency that was significantly higher (OR, 17.9; p less than 0.05) than the frequency of F228I observed in unselected controls (2.3%). The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Van den Boogaard et al. (2012) also identified homozygosity, heterozygosity, or compound heterozygosity for the C107X (606268.0002) and F228I mutations in 11 patients with tooth agenesis who had mild features of ectodermal dysplasia, but did not exhibit the characteristic features of OODD. Overall, no specific pattern of tooth agenesis was observed for WNT10A mutation carriers. </p><p>In 16 probands with features of ectodermal dysplasia referred with tooth agenesis and features of ED, Plaisancie et al. (2013) identified heterozygosity, homozygosity, or compound heterozygosity for mutations in WNT10A. The C107X and F228I mutations represented 43% and 18% of the detected WNTA10A variants, respectively. The authors observed associated features of ED in 15 of the 16 patients with WNT10A mutations; noting that ED features were present in only 11 of the 30 patients studied by van den Boogaard et al. (2012), Plaisancie et al. (2013) suggested that this reflected different methods of recruitment. </p><p>In a population-based cohort of 94 Swedish families including 102 individuals with nonsyndromic tooth agenesis (mean of 8.2 missing teeth), Arzoo et al. (2014) identified 26 probands (27.7%) with mutation in the WNT10A gene, 17 of whom had monoallelic mutations and 11 biallelic mutations. Individuals with biallelic mutations had a higher number of missing teeth (mean, 11.1) than did those with monoallelic mutations (mean, 6.8). Upper and lower premolars were the most common type of missing teeth (59.7% of all missing teeth). Probands with biallelic mutations had a higher frequency of absent maxillary and mandibular molars (p = 3.63 x 10(-6)) and mandibular central incisors (p = 6.91 x 10(-3)). There were no differences in type or number of missing teeth between males and females. </p><p>In 6 of 9 unrelated Thai patients with agenesis or isolated hypodontia of the maxillary permanent canines, Kantaputra et al. (2014) identified 3 different heterozygous mutations in the WNT10A gene (see, e.g., 606268.0009). One of the affected individuals also had pegged maxillary permanent lateral incisors with dens invaginatus. Two mothers of the patients carried the mutation and had pegged maxillary permanent lateral incisors. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yang et al. (2015) found that Wnt10a-null mice generated by the knockout mouse project (KOMP) exhibited supernumerary mandibular fourth molars, smaller molars with abnormal cusp patterning, root taurodontism, reduced volume of dentin, pulp calcification, molar crown dysmorphologies, and increased risk of root resorption following tooth development and eruption. The total tooth volume of the Wnt10a-null first mandibular molars averaged 71% of the wildtype. The enamel, dentin, and pulp volumes averaged 87%, 67%, and 84% of those of the wildtype molars, respectively. </p><p>Xu et al. (2017) generated a conditional Wnt10a knockout mouse and studied developmental and tissue specific functional roles of Wnt10a. Wnt10a-deficient mice exhibited region-specific tongue and palmoplantar abnormalities, decreased sweat duct basal proliferation, and decreased basal proliferation of fungiform and circumvallate taste buds. Xu et al. (2017) demonstrated that the absence of Wnt10a led to decreased activity in beta-catenin pathways and reduced adult epithelial progenitor cell proliferation. The authors concluded that WNT10A/beta-catenin signaling controls progenitor cell proliferation in diverse epithelia. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>13 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, GLU233TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908118,
|
|
|
|
|
|
gnomAD: rs121908118,
|
|
|
|
|
|
ClinVar: RCV000004714, RCV001851651
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members from 3 families with odontoonychodermal dysplasia (OODD; 257980), Adaimy et al. (2007) demonstrated homozygosity for the same nonsense mutation in the WNT10A gene. A 697G-T transversion in exon 3 causes substitution of a stop codon for the negatively charged glu233 (E233X), resulting in a prematurely truncated protein of 232 amino acids instead of 417 amino acids. </p>
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
SCHOPF-SCHULZ-PASSARGE SYNDROME, INCLUDED<br />
|
|
TOOTH AGENESIS, SELECTIVE 4, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, CYS107TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908119,
|
|
|
|
|
|
gnomAD: rs121908119,
|
|
|
|
|
|
ClinVar: RCV000004715, RCV000004716, RCV000030650, RCV000190800, RCV000255732, RCV000477935, RCV000536747, RCV000779308, RCV001729335, RCV002247247
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 families with odontoonychodermal dysplasia (OODD; 257980) and 1 proband of a family with Schopf-Schulz-Passarge syndrome (SPSS; 224750), Bohring et al. (2009) identified homozygosity for a 321C-A transversion in the WNT10A gene, resulting in a cys107-to-ter (C107X) substitution that was not found in 200 control chromosomes. In 2 additional probands with OODD, the C107X mutation was found in compound heterozygosity with a phe228-to-ile (F228I; 606268.0003) mutation, and in a brother and sister who had oligodontia and sparse body hair and eyebrows as their only manifestations, the C107X mutation was found in compound heterozygosity with an arg128-to-gln (R128Q; 606268.0004) mutation. Of 18 heterozygous carriers of the C107X mutation, 10 exhibited some phenotypic manifestation, including anomalies of teeth, skin, and nails. </p><p>In 2 unrelated patients with nonsyndromic tooth agenesis (STHAG4; 150400), van den Boogaard et al. (2012) identified heterozygosity for the C107X mutation in the WNT10A gene; in 3 other patients, the mutation was present in compound heterozygosity with the F228I mutation. In addition, van den Boogaard et al. (2012) identified mutations in the C107X mutation in 6 patients with tooth agenesis who had mild features of ectodermal dysplasia, but who did not exhibit the characteristic features of OODD; 2 were heterozygous, 1 was homozygous, and 3 were compound heterozygous for C207X and F228I. </p><p>In 4 probands with tooth agenesis and features of ectodermal dysplasia, Plaisancie et al. (2013) identified the C107X mutation in the WNT10A gene, present in homozygosity in 1 patient and in compound heterozygosity in 3 patients, including with the F228I mutation in 1 proband. In the latter family, the proband's unaffected father and mother were each heterozygous for 1 of the mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
WNT10A, PHE228ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908120,
|
|
|
|
|
|
gnomAD: rs121908120,
|
|
|
|
|
|
ClinVar: RCV000004717, RCV000255788, RCV000445356, RCV000550721, RCV000622932, RCV000754840, RCV000845113, RCV001535660, RCV001729336, RCV001813948, RCV002464974, RCV004528071, RCV004584315
|
|
|
|
|
|
</span>
|
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</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In 2 probands with odontoonychodermal dysplasia (OODD; 257980), Bohring et al. (2009) identified homozygosity for a 682T-A transversion in the WNT10A gene, resulting in a phe228-to-ile (F228I) substitution at an evolutionarily conserved residue. In 2 additional probands with OODD, the F228I mutation was found in compound heterozygosity with the C107X mutation (606268.0002). The F228I mutation was not found in 200 control chromosomes. Of 15 heterozygous carriers of the F228I mutation, 7 exhibited some phenotypic manifestation, including anomalies of teeth, skin, hair, and nails. </p><p>In the affected father and eldest son from an American family with variable hypodontia involving lateral incisors and premolar teeth (STHAG4; 150400), Kantaputra and Sripathomsawat (2011) identified heterozygosity for the F228I mutation in the WNT10A gene. Another affected son, who had only microdontia of the left mandibular second premolar, was compound heterozygous for F228I and a 649G-A transition in exon 3 of the WNT10A gene, resulting in an asp217-to-asn (D217N; 606268.0007) substitution, which he had inherited from his unaffected mother, who had normal dentition. The D217N mutation was also present in heterozygosity in another affected son, who had absence of the maxillary permanent lateral incisors, mandibular second premolars, and a mandibular permanent lateral incisor. Examination of the family members revealed no other manifestations of ectodermal dysplasia. Neither mutation was found in 200 control chromosomes from individuals with normal dentition from a Thai DNA bank registry or in 400 Swedish and 400 Pakistani control chromosomes. </p><p>In 13 patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) identified the F228I mutation in the WNT10A gene; the mutation was homozygous in 7 patients, heterozygous in 2 patients, and compound heterozygous with C107X in 3 patients and with G95K (606268.0008) in 1 patient. The authors noted that F228I was found in unselected controls at an allele frequency of 2.3%, reflecting the high prevalence of tooth agenesis in the general population. In addition, van den Boogaard et al. (2012) identified heterozygosity, homozygosity, or compound heterozygosity for the F228I mutation in 8 patients with tooth agenesis who had mild features of ectodermal dysplasia, but did not exhibit the characteristic features of OODD; 2 were heterozygous, 2 were homozygous, 3 were compound heterozygous for C207X and F228I, and 1 was compound heterozygous for C208X and a W277C mutation in WNT10A. </p><p>In 8 probands with tooth agenesis, 7 of whom also exhibited features of ectodermal dysplasia, Plaisancie et al. (2013) identified the F228I mutation in the WNT10A gene, present in heterozygosity in 2 patients, in homozygosity in 3 patients, and in compound heterozygosity with another WNT10A variant in 3 patients. Of the 3 patients homozygous for F228I, 1 had severe tooth agenesis without other associated features, whereas the other 2 probands had tooth agenesis, conical teeth, and thin nails, as well as short stature in 1 of them and thick hair in the other. </p><p>In a population-based study of 102 Swedish individuals with nonsyndromic tooth agenesis, Arzoo et al. (2014) identified the F228I variant in the WNT10A gene as the most prevalent variant in their cohort. It represented 13.3% of all oligodontia alleles and was found in 21 of 94 probands. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ODONTOONYCHODERMAL DYSPLASIA</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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TOOTH AGENESIS, SELECTIVE, 4, INCLUDED
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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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WNT10A, ARG128GLN
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<br />
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SNP: rs121908121,
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gnomAD: rs121908121,
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ClinVar: RCV000004718, RCV000030651, RCV000059803, RCV000824631, RCV005016239
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a brother and sister with odontoonychodermal dysplasia (OODD; 257980), who had oligodontia and sparse body hair and eyebrows as their only manifestations, Bohring et al. (2009) identified compound heterozygosity for a 383G-A transition in the WNT10A gene, resulting in an arg128-to-gln (R128Q) substitution at an evolutionarily conserved residue, and the C107X mutation (606268.0002). Of 2 family members who were heterozygous carriers of the R128Q mutation, 1 was noted to have sparse eyebrows. The R128Q mutation was found in 2 of 396 control chromosomes. </p><p>In a patient with nonsyndromic tooth agenesis (STHAG4; 150400), van den Boogaard et al. (2012) identified heterozygosity for the R128Q mutation in the WNT10A gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 ODONTOONYCHODERMAL DYSPLASIA</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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WNT10A, CYS376TER
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<br />
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SNP: rs121908122,
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ClinVar: RCV000004719, RCV003764526
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sisters with odontoonychodermal dysplasia (OODD; 257980), Bohring et al. (2009) identified homozygosity for a 1128C-A transversion in the WNT10A gene, resulting in a cys376-to-ter (C376X) substitution that was not found in 200 control chromosomes. Their unaffected father was a heterozygous carrier; their mother was deceased. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 ODONTOONYCHODERMAL DYSPLASIA</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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WNT10A, TRP9TER
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<br />
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SNP: rs121908123,
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ClinVar: RCV000004720
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female proband with odontoonychodermal dysplasia (OODD; 257980), born of first-cousin parents, Bohring et al. (2009) identified homozygosity for a 27G-A transition in the WNT10A gene, resulting in a trp9-to-ter (W9X) substitution that was not found in 200 control chromosomes. Her parents and a maternal aunt, who were heterozygous for the mutation, had anomalies of the teeth, nails, and hair. </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>.0007 TOOTH AGENESIS, SELECTIVE, 4</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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WNT10A, ASP217ASN
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<br />
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SNP: rs146902156,
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gnomAD: rs146902156,
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ClinVar: RCV000023530, RCV000059804, RCV000271824, RCV000322248, RCV002247385, RCV002513192
|
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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>For discussion of the asp217-to-asn (D217N) mutation in the WNT10A gene that was found in compound heterozygous state in patients with variable hypodontia involving lateral incisors and premolar teeth (STHAG4; 150400) by Kantaputra and Sripathomsawat (2011), see 606268.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 TOOTH AGENESIS, SELECTIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, GLY95LYS
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<br />
|
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|
|
SNP: rs318240759,
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|
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|
|
gnomAD: rs318240759,
|
|
|
|
|
|
ClinVar: RCV000059802, RCV000811807, RCV001275113, RCV002292375, RCV004542736
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with nonsyndromic tooth agenesis (STHAG4; 150400), van den Boogaard et al. (2012) identified compound heterozygosity for 2 mutations in the WNT10A gene: gly95-to-lys (G95K) and F228I (606268.0003). </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 TOOTH AGENESIS, SELECTIVE, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, GLY213SER ({dbSNP rs147680216})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs147680216,
|
|
|
|
|
|
gnomAD: rs147680216,
|
|
|
|
|
|
ClinVar: RCV000128463, RCV000270809, RCV000325824, RCV000490390, RCV000845115, RCV001555273, RCV003233110, RCV004734670
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated Thai patients with agenesis of the maxillary permanent canines (STHAG4; 150400), Kantaputra et al. (2014) identified a heterozygous A-to-G transition in the WNT10A gene, resulting in a gly213-to-ser (G213S; rs147680216) substitution. The mother of one of the patients carried the mutation and had peg-shaped maxillary lateral incisors. One of 100 Thai controls also carried the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, IVS3AS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1944637150,
|
|
|
|
|
|
|
|
ClinVar: RCV001194666
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Indian sibs with odontoonychodermal dysplasia (OODD; 257980), Xu et al. (2017) identified homozygosity for a splice site mutation (c.756+1G-A) in intron 3 of the WNT10A gene. The parents were heterozygous for the mutation. qPCR in hair samples from one of the sibs showed the presence of normally spliced exon 1 and exon 2 transcripts but a significant decrease in transcripts resulting from splicing of intron 3. The predicted protein product is truncated after amino acid 252, resulting in absence of part of the conserved C terminus necessary for disulfide bridge formation, Wnt protein secondary structure, and binding to Frizzled receptors (see 603408). The sibs had conical primary teeth, failure to develop permanent teeth, alopecia, and palmoplantar scaling. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, ARG248TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs886039453,
|
|
|
|
|
|
gnomAD: rs886039453,
|
|
|
|
|
|
ClinVar: RCV000254848, RCV000677100, RCV000823047, RCV001266421, RCV001275115, RCV004535236
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 14-year-old girl (patient 20-32), born of consanguineous parents, with a clinical diagnosis of odontoonychodermal dysplasia (OODD; 257980), Yu et al. (2019) identified homozygosity for a c.742C-T transition in the WNT10A gene, resulting in an arg248-to-ter (R248X) substitution. The mutation, which was identified by Sanger sequencing, was present in heterozygous state in the parents and a healthy sib. It was not present in 200 healthy controls. The patient had dry skin, hypohidrosis, dystrophic nails, widely spaced primary dentition with absence of 5 deciduous teeth, and complete absence of permanent teeth. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, CYS276SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1011303295,
|
|
|
|
|
|
gnomAD: rs1011303295,
|
|
|
|
|
|
ClinVar: RCV000677102
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old girl (patient 14-43) with a clinical diagnosis of odontoonychodermal dysplasia (OODD; 257980), Yu et al. (2019) identified compound heterozygous mutations in the WNT10A gene: a c.826T-A transversion (c.826T-A, NM_025216.2), resulting in a cys276-to-ser (C276S) substitution, and a 1-bp deletion (c.949delG; 606268.0015), resulting in a frameshift and a premature termination codon (Ala317HisfsTer121). The mutations were identified by Sanger sequencing. The parents were each heterozygous for one of the mutations. Neither mutation was present in 200 healthy controls. The patient had absence of permanent dentition, sparse body hair, palmoplantar keratodermas, and hypohidrosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 ODONTOONYCHODERMAL DYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WNT10A, 1-BP DEL, 949G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs775990266,
|
|
|
|
|
|
gnomAD: rs775990266,
|
|
|
|
|
|
ClinVar: RCV000677103, RCV001868287
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.949delG, NM_025216.2) in the WNT10A gene that was identified in compound heterozygous state in a patient with odontoonychodermal dysplasia (OODD; 257980) by Yu et al. (2019), see 606260.0012. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<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>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adaimy, L., Chouery, E., Megarbane, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., Megarbane, A.
|
|
<strong>Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.</strong>
|
|
Am. J. Hum. Genet. 81: 821-828, 2007.
|
|
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|
|
[PubMed: 17847007]
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|
|
[Full Text: https://doi.org/10.1086/520064]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Arzoo, P. S., Klar, J., Bergendal, B., Norderyd, J., Dahl, N.
|
|
<strong>WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations.</strong>
|
|
Am. J. Med. Genet. 164A: 353-359, 2014.
|
|
|
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|
|
[PubMed: 24449199]
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.36243]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bohring, A., Stamm, T., Spaich, C., Haase, C., Spree, K., Hehr, U., Hoffmann, M., Ledig, S., Sel, S., Wieacker, P., Ropke, A.
|
|
<strong>WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.</strong>
|
|
Am. J. Hum. Genet. 85: 97-105, 2009.
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[PubMed: 19559398]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.06.001]
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</p>
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</li>
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<p class="mim-text-font">
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Kantaputra, P., Kaewgahya, M., Kantaputra, W.
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<strong>WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.</strong>
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Am. J. Med. Genet. 164A: 360-363, 2014.
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[PubMed: 24311251]
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[Full Text: https://doi.org/10.1002/ajmg.a.36280]
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</p>
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<li>
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<p class="mim-text-font">
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Kantaputra, P., Sripathomsawat, W.
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<strong>WNT10A and isolated hypodontia.</strong>
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Am. J. Med. Genet. 155A: 1119-1122, 2011.
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[PubMed: 21484994]
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[Full Text: https://doi.org/10.1002/ajmg.a.33840]
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<li>
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<p class="mim-text-font">
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Kirikoshi, H., Sekihara, H., Katoh, M.
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<strong>WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly coexpressed in SW480 cells.</strong>
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Biochem. Biophys. Res. Commun. 283: 798-805, 2001.
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[PubMed: 11350055]
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[Full Text: https://doi.org/10.1006/bbrc.2001.4855]
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Plaisancie, J., Bailleul-Forestier, I., Gaston, V., Vaysse, F., Lacombe, D., Holder-Espinasse, M., Abramowicz, M., Coubes, C., Plessis, G., Faivre, L., Demeer, B., Vincent-Delorme, C., and 10 others.
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<strong>Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.</strong>
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Am. J. Med. Genet. 161A: 671-678, 2013.
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[PubMed: 23401279]
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[Full Text: https://doi.org/10.1002/ajmg.a.35747]
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</p>
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</li>
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<li>
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van den Boogaard, M.-J., Creton, M., Bronkhorst, Y., van der Hout, A., Hennekam, E., Lindhout, D., Cune, M., Ploos van Amstel, H. K.
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<strong>Mutations in WNT10A are present in more than half of isolated hypodontia cases.</strong>
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J. Med. Genet. 49: 327-331, 2012.
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[PubMed: 22581971]
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-100750]
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</p>
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<li>
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<p class="mim-text-font">
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Xu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., and 13 others.
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<strong>WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.</strong>
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Nature Commun. 8: 15397, 2017. Note: Electronic Article.
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[PubMed: 28589954]
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[Full Text: https://doi.org/10.1038/ncomms15397]
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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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Yang, J., Wang, S.-K., Choi, M., Reid, B. M., Hu, Y., Lee, T.-L., Herzog, C. R., Kim-Berman, H., Lee, M., Benke, P. J., Llyod, K. C. K., Simmer, J. P., Hu, J. C.-C.
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<strong>Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.</strong>
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Molec. Genet. Genomic Med. 3: 40-58, 2015.
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[PubMed: 25629078]
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[Full Text: https://doi.org/10.1002/mgg3.111]
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</p>
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<li>
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<p class="mim-text-font">
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Yu, M., Liu, Y., Liu, H., Wong, S.-W., He, H., Zhang, X., Wang, Y., Han, D., Feng, H.
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<strong>Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.</strong>
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Am. J. Med. Genet. 179A: 57-64, 2019.
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[PubMed: 30569517]
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[Full Text: https://doi.org/10.1002/ajmg.a.60682]
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Hilary J. Vernon - updated : 06/22/2020<br>Marla J. F. O'Neill - updated : 03/06/2017<br>Joanna S. Amberger - updated : 07/27/2016<br>Ingrid M. Wentzensen - updated : 7/2/2014<br>Marla J. F. O'Neill - updated : 8/9/2012<br>Marla J. F. O'Neill - updated : 6/30/2011<br>Marla J. F. O'Neill - updated : 7/30/2009<br>Victor A. McKusick - updated : 10/3/2007
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