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<title>
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Entry
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- *613214 - WD REPEAT-CONTAINING PROTEIN 72; WDR72
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- OMIM
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*613214</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/613214">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000166415;t=ENST00000360509" 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=256764" 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=613214" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000166415;t=ENST00000360509" 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_001277176,NM_182758,NR_102334,NR_102335,NR_102336,XM_011521436,XM_017022061,XM_047432342,XM_047432343,XM_047432344,XM_047432345" 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_182758" 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=613214" 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=10987&isoform_id=10987_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/WDR72" 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/21755451,31873892,75516629,75517757,119597868,296453027,464402377,464402385,767983807,1034590227,2217300682,2217300684,2217300686,2217300690,2462543541,2462543543,2462543545,2462543547,2462543549,2462543551" 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/Q3MJ13" 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=256764" 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=ENSG00000166415;t=ENST00000360509" 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=WDR72" 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=WDR72" 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+256764" 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/WDR72" 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:256764" 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/256764" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr15&hgg_gene=ENST00000360509.10&hgg_start=53513741&hgg_end=53762878&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26790" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:26790" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613214[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=613214[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://gnomad.broadinstitute.org/gene/ENSG00000166415" 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=WDR72" 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=WDR72" 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=WDR72" 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=WDR72&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/PA142670587" 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:26790" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:3583957" 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/WDR72#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:3583957" 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/256764/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=256764" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=WDR72&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613214
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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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WD REPEAT-CONTAINING PROTEIN 72; WDR72
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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=WDR72" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WDR72</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/15/227?start=-3&limit=10&highlight=227">15q21.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:53513741-53762878&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:53,513,741-53,762,878</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/15/227?start=-3&limit=10&highlight=227">
|
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15q21.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Amelogenesis imperfecta, type IIA3
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/613211"> 613211 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<p>WDR72 has a predicted structure characteristic of proteins that mediate membrane deformation. It plays an important role in enamel mineralization, possibly due to endocytic vesicle trafficking (<a href="#2" class="mim-tip-reference" title="Katsura, K. A., Horst, J. A., Chandra, D., Le, T. Q., Nakano, Y., Zhang, Y., Horst, O. V., Zhu, L., Le, M. H., DenBesten, P. K. <strong>WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.</strong> Matrix Biol. 38: 48-58, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25008349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25008349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25008349[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.matbio.2014.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25008349">Katsura et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25008349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By searching for genes in a region of chromosome 15 associated with amelogenesis imperfecta, <a href="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al. (2009)</a> identified the WDR72 gene. The deduced 1,102-amino acid protein contains 7 WD40 domains, which are predicted to form the blades of a 7 beta-propeller structure and function as a docking platform for protein-protein interactions. WDR72 shares highest similarity with WDR7, which is involved in vesicle mobilization and Ca(2+)-dependent exocytosis at synapses. Database analysis suggested WDR72 is expressed in a wide variety of tissues. Immunohistochemical analysis of developing mouse incisors detected Wdr72 expression in the enamel organ, with more intense staining in maturation ameloblasts than in secretory ameloblasts. Wdr72 was also detected in some bone and connective tissue cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" 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>Transient expression of WDR72 fused to green fluorescent protein (GFP) in HEK293T cells showed that WDR72 localized to the cytoplasm (<a href="#3" class="mim-tip-reference" title="Lee, S.-K., Seymen, F., Lee, K.-E., Kang, H.-Y., Yildirim, M., Tuna, E. B., Gencay, K., Hwang, Y.-H., Nam, K. H., De La Garza, R. J., Hu, J. C.-C., Simmer, J. P., Kim, J.-W. <strong>Novel WDR72 mutation and cytoplasmic localization.</strong> J. Dent. Res. 89: 1378-1382, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20938048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20938048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20938048[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/10.1177/0022034510382117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20938048">Lee et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20938048" 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 molecular modeling, <a href="#2" class="mim-tip-reference" title="Katsura, K. A., Horst, J. A., Chandra, D., Le, T. Q., Nakano, Y., Zhang, Y., Horst, O. V., Zhu, L., Le, M. H., DenBesten, P. K. <strong>WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.</strong> Matrix Biol. 38: 48-58, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25008349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25008349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25008349[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.matbio.2014.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25008349">Katsura et al. (2014)</a> determined that full-length human WDR72 contains two 7-bladed beta-propellers formed by 2 clusters of WD40 repeat domains at its N terminus, followed by a C-terminal alpha-solenoid tail. The authors noted that this domain organization is characteristic of vesicle coat proteins that mediate membrane deformation. Quantitative real-time PCR and Western blot analysis revealed that Wdr72 expression increased in mouse ameloblasts from secretory to maturation stages. In mature mouse ameloblasts, Wdr72 showed a vesicle-like punctate localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25008349" 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="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al. (2009)</a> determined that the WDR72 gene contains 19 exons and spans about 250 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Katsura, K. A., Horst, J. A., Chandra, D., Le, T. Q., Nakano, Y., Zhang, Y., Horst, O. V., Zhu, L., Le, M. H., DenBesten, P. K. <strong>WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.</strong> Matrix Biol. 38: 48-58, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25008349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25008349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25008349[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.matbio.2014.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25008349">Katsura et al. (2014)</a> reported that WDR72 has 20 exons. Exon 1 is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25008349" 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>The WDR72 gene maps to chromosome 15q21.3 (<a href="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large Pakistani family segregating autosomal recessive hypomaturation amelogenesis imperfecta (AI) mapping to chromosome 15q21.3 (AI2A3; <a href="/entry/613211">613211</a>), <a href="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al. (2009)</a> identified a homozygous nonsense mutation in the WDR72 gene (<a href="#0001">613214.0001</a>). Analysis of the WDR72 gene in 4 Pakistani AI families and 5 Omani AI families revealed homozygosity for the same mutation in another Pakistani AI family with a similar clinical phenotype; in addition, 2 different WDR72 mutations were found in 2 Omani AI families (<a href="#0002">613214.0002</a> and <a href="#0003">613214.0003</a>, respectively). The mutations all cosegregated consistently with the phenotype and were not found in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" 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 whole-exome sequencing of the WDR72 gene in a Mexican and a Turkish family segregating autosomal recessive amelogenesis imperfecta, <a href="#3" class="mim-tip-reference" title="Lee, S.-K., Seymen, F., Lee, K.-E., Kang, H.-Y., Yildirim, M., Tuna, E. B., Gencay, K., Hwang, Y.-H., Nam, K. H., De La Garza, R. J., Hu, J. C.-C., Simmer, J. P., Kim, J.-W. <strong>Novel WDR72 mutation and cytoplasmic localization.</strong> J. Dent. Res. 89: 1378-1382, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20938048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20938048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20938048[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/10.1177/0022034510382117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20938048">Lee et al. (2010)</a> identified the same homozygous 2-bp deletion (c.1467_1468delAT; <a href="#0004">613214.0004</a>) that segregated with the disorder in both families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20938048" 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="#2" class="mim-tip-reference" title="Katsura, K. A., Horst, J. A., Chandra, D., Le, T. Q., Nakano, Y., Zhang, Y., Horst, O. V., Zhu, L., Le, M. H., DenBesten, P. K. <strong>WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.</strong> Matrix Biol. 38: 48-58, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25008349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25008349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25008349[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.matbio.2014.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25008349">Katsura et al. (2014)</a> found that Wdr72 -/- mice appeared healthy, with no obvious tissue or tooth phenotype, except for a defect in enamel maturation. At weaning on postnatal day 21, Wdr72 -/- mice showed reduced body weight, likely due to difficulty chewing hard foods. Incisors and molar crowns showed loss of enamel at occlusal surfaces, while the exposed dentin remained relatively intact. Wdr72 -/- mandibles showed hypomineralized enamel at the onset of the maturation stage, with retained proteins in the enamel matrix, shortened ameloblast height, and reduced expression of the H+/Cl- exchanger Clc5 (<a href="/entry/300008">300008</a>) in early endosomes. Wdr72 -/- ameloblasts showed reduced amelogenin (AMELX; <a href="/entry/300391">300391</a>) immunoreactivity, suggesting defects in resorption of amelogenin fragments from the matrix during enamel maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25008349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="/allelicVariants/613214" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613214[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</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> rs267607178 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607178;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/rs267607178?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=rs267607178" 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=rs267607178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 2 unrelated Pakistani families segregating autosomal recessive hypomaturation-type amelogenesis imperfecta (AI2A3; <a href="/entry/613211">613211</a>), <a href="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al. (2009)</a> identified homozygosity for a 2348C-G transversion in exon 15 of the WDR72 gene, predicted to result in a ser783-to-ter (S783X) substitution. The mutation was not found in 192 Pakistani controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" 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>.0002 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</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> rs143816093 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143816093;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/rs143816093?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=rs143816093" 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=rs143816093" 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=RCV000000256 OR RCV000421226" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000256, RCV000421226" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000256...</a>
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<p>In the proband of a consanguineous Omani family with hypomaturation-type amelogenesis imperfecta (AI2A3; <a href="/entry/613211">613211</a>), <a href="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al. (2009)</a> identified homozygosity for a 2934G-A transition in exon 17 of the WDR72 gene, resulting in a trp978-to-ter (W978X) substitution. The mutation was not found in 192 controls of differing ethnic origins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</strong>
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WDR72, 1-BP DEL, 2857A
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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> rs606231351 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231351;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/rs606231351?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=rs606231351" 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=rs606231351" 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 from a consanguineous Omani family with hypomaturation-type amelogenesis imperfecta (AI2A3; <a href="/entry/613211">613211</a>), <a href="#1" class="mim-tip-reference" title="El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. <strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong> Am. J. Hum. Genet. 85: 699-705, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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.2009.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19853237">El-Sayed et al. (2009)</a> identified homozygosity for a 1-bp deletion (2857delA) in exon 16 of the WDR72 gene, resulting in a terminal frameshift. The mutation was not found in 192 controls of differing ethnic origins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19853237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</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> rs606231462 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231462;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/rs606231462?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=rs606231462" 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=rs606231462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>By whole-exome sequencing of the WDR72 gene in a Mexican and a Turkish family segregating autosomal recessive amelogenesis imperfecta (AI2A3; <a href="/entry/613211">613211</a>), <a href="#3" class="mim-tip-reference" title="Lee, S.-K., Seymen, F., Lee, K.-E., Kang, H.-Y., Yildirim, M., Tuna, E. B., Gencay, K., Hwang, Y.-H., Nam, K. H., De La Garza, R. J., Hu, J. C.-C., Simmer, J. P., Kim, J.-W. <strong>Novel WDR72 mutation and cytoplasmic localization.</strong> J. Dent. Res. 89: 1378-1382, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20938048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20938048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20938048[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/10.1177/0022034510382117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20938048">Lee et al. (2010)</a> identified the same homozygous 2-bp deletion (c.1467_1468delAT; <a href="#0004">613214.0004</a>) in exon 12 that segregated with the disorder in both families. The deletion was predicted to cause a frameshift and premature termination (Val491fsTer497). The permanent dentition of the 3 affected sisters from the Mexican family (family 1) showed enamel roughness and discoloration. Deterioration of the dentition was particularly evident on the occlusal or incisal half of the tooth. The enamel layer showed reduced radiodensity. The phenotype in the 2 affected brothers in the Turkish family (family 2) was more mild than that in the Mexican sisters but had the same reduced radiodensity of the enamel layer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20938048" 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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El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J.
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<strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong>
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Am. J. Hum. Genet. 85: 699-705, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19853237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19853237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19853237[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=19853237" 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.2009.09.014" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Katsura2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Katsura, K. A., Horst, J. A., Chandra, D., Le, T. Q., Nakano, Y., Zhang, Y., Horst, O. V., Zhu, L., Le, M. H., DenBesten, P. K.
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<strong>WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.</strong>
|
|
Matrix Biol. 38: 48-58, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25008349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25008349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25008349[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=25008349" 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.matbio.2014.06.005" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Lee2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, S.-K., Seymen, F., Lee, K.-E., Kang, H.-Y., Yildirim, M., Tuna, E. B., Gencay, K., Hwang, Y.-H., Nam, K. H., De La Garza, R. J., Hu, J. C.-C., Simmer, J. P., Kim, J.-W.
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|
<strong>Novel WDR72 mutation and cytoplasmic localization.</strong>
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J. Dent. Res. 89: 1378-1382, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20938048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20938048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20938048[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=20938048" 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/10.1177/0022034510382117" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Patricia A. Hartz - updated : 2/20/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Joanna S. Amberger - updated : 12/2/2014<br>Marla J. F. O'Neill - updated : 1/12/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Patricia A. Hartz : 1/12/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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mgross : 03/03/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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mcolton : 2/20/2015<br>carol : 12/3/2014<br>joanna : 12/2/2014<br>alopez : 1/14/2010<br>wwang : 1/12/2010
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613214
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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WD REPEAT-CONTAINING PROTEIN 72; WDR72
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WDR72</em></strong>
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</span>
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</p>
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</div>
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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: 15q21.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:53,513,741-53,762,878 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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15q21.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Amelogenesis imperfecta, type IIA3
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</span>
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</td>
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<td>
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<span class="mim-font">
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613211
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>WDR72 has a predicted structure characteristic of proteins that mediate membrane deformation. It plays an important role in enamel mineralization, possibly due to endocytic vesicle trafficking (Katsura et al., 2014). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By searching for genes in a region of chromosome 15 associated with amelogenesis imperfecta, El-Sayed et al. (2009) identified the WDR72 gene. The deduced 1,102-amino acid protein contains 7 WD40 domains, which are predicted to form the blades of a 7 beta-propeller structure and function as a docking platform for protein-protein interactions. WDR72 shares highest similarity with WDR7, which is involved in vesicle mobilization and Ca(2+)-dependent exocytosis at synapses. Database analysis suggested WDR72 is expressed in a wide variety of tissues. Immunohistochemical analysis of developing mouse incisors detected Wdr72 expression in the enamel organ, with more intense staining in maturation ameloblasts than in secretory ameloblasts. Wdr72 was also detected in some bone and connective tissue cells. </p><p>Transient expression of WDR72 fused to green fluorescent protein (GFP) in HEK293T cells showed that WDR72 localized to the cytoplasm (Lee et al., 2010). </p><p>By molecular modeling, Katsura et al. (2014) determined that full-length human WDR72 contains two 7-bladed beta-propellers formed by 2 clusters of WD40 repeat domains at its N terminus, followed by a C-terminal alpha-solenoid tail. The authors noted that this domain organization is characteristic of vesicle coat proteins that mediate membrane deformation. Quantitative real-time PCR and Western blot analysis revealed that Wdr72 expression increased in mouse ameloblasts from secretory to maturation stages. In mature mouse ameloblasts, Wdr72 showed a vesicle-like punctate localization. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>El-Sayed et al. (2009) determined that the WDR72 gene contains 19 exons and spans about 250 kb. </p><p>Katsura et al. (2014) reported that WDR72 has 20 exons. Exon 1 is noncoding. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The WDR72 gene maps to chromosome 15q21.3 (El-Sayed et al., 2009). </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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|
<p>In a large Pakistani family segregating autosomal recessive hypomaturation amelogenesis imperfecta (AI) mapping to chromosome 15q21.3 (AI2A3; 613211), El-Sayed et al. (2009) identified a homozygous nonsense mutation in the WDR72 gene (613214.0001). Analysis of the WDR72 gene in 4 Pakistani AI families and 5 Omani AI families revealed homozygosity for the same mutation in another Pakistani AI family with a similar clinical phenotype; in addition, 2 different WDR72 mutations were found in 2 Omani AI families (613214.0002 and 613214.0003, respectively). The mutations all cosegregated consistently with the phenotype and were not found in controls. </p><p>By whole-exome sequencing of the WDR72 gene in a Mexican and a Turkish family segregating autosomal recessive amelogenesis imperfecta, Lee et al. (2010) identified the same homozygous 2-bp deletion (c.1467_1468delAT; 613214.0004) that segregated with the disorder in both families. </p>
|
|
</span>
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<div>
|
|
<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>Animal Model</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Katsura et al. (2014) found that Wdr72 -/- mice appeared healthy, with no obvious tissue or tooth phenotype, except for a defect in enamel maturation. At weaning on postnatal day 21, Wdr72 -/- mice showed reduced body weight, likely due to difficulty chewing hard foods. Incisors and molar crowns showed loss of enamel at occlusal surfaces, while the exposed dentin remained relatively intact. Wdr72 -/- mandibles showed hypomineralized enamel at the onset of the maturation stage, with retained proteins in the enamel matrix, shortened ameloblast height, and reduced expression of the H+/Cl- exchanger Clc5 (300008) in early endosomes. Wdr72 -/- ameloblasts showed reduced amelogenin (AMELX; 300391) immunoreactivity, suggesting defects in resorption of amelogenin fragments from the matrix during enamel maturation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
WDR72, SER783TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607178,
|
|
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|
|
|
gnomAD: rs267607178,
|
|
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|
|
|
ClinVar: RCV000000255
|
|
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|
|
</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated Pakistani families segregating autosomal recessive hypomaturation-type amelogenesis imperfecta (AI2A3; 613211), El-Sayed et al. (2009) identified homozygosity for a 2348C-G transversion in exon 15 of the WDR72 gene, predicted to result in a ser783-to-ter (S783X) substitution. The mutation was not found in 192 Pakistani controls. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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WDR72, TRP978TER
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<br />
|
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|
|
SNP: rs143816093,
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gnomAD: rs143816093,
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|
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ClinVar: RCV000000256, RCV000421226
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In the proband of a consanguineous Omani family with hypomaturation-type amelogenesis imperfecta (AI2A3; 613211), El-Sayed et al. (2009) identified homozygosity for a 2934G-A transition in exon 17 of the WDR72 gene, resulting in a trp978-to-ter (W978X) substitution. The mutation was not found in 192 controls of differing ethnic origins. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
WDR72, 1-BP DEL, 2857A
|
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<br />
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SNP: rs606231351,
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gnomAD: rs606231351,
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ClinVar: RCV000000257
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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 from a consanguineous Omani family with hypomaturation-type amelogenesis imperfecta (AI2A3; 613211), El-Sayed et al. (2009) identified homozygosity for a 1-bp deletion (2857delA) in exon 16 of the WDR72 gene, resulting in a terminal frameshift. The mutation was not found in 192 controls of differing ethnic origins. </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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<h4>
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<span class="mim-font">
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<strong>.0004 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3</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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WDR72, 2-BP DEL, 1467AT
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<br />
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SNP: rs606231462,
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gnomAD: rs606231462,
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ClinVar: RCV000148931
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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>By whole-exome sequencing of the WDR72 gene in a Mexican and a Turkish family segregating autosomal recessive amelogenesis imperfecta (AI2A3; 613211), Lee et al. (2010) identified the same homozygous 2-bp deletion (c.1467_1468delAT; 613214.0004) in exon 12 that segregated with the disorder in both families. The deletion was predicted to cause a frameshift and premature termination (Val491fsTer497). The permanent dentition of the 3 affected sisters from the Mexican family (family 1) showed enamel roughness and discoloration. Deterioration of the dentition was particularly evident on the occlusal or incisal half of the tooth. The enamel layer showed reduced radiodensity. The phenotype in the 2 affected brothers in the Turkish family (family 2) was more mild than that in the Mexican sisters but had the same reduced radiodensity of the enamel layer. </p>
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</span>
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</div>
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</div>
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</div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J.
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<strong>Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.</strong>
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Am. J. Hum. Genet. 85: 699-705, 2009.
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[PubMed: 19853237]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.09.014]
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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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Katsura, K. A., Horst, J. A., Chandra, D., Le, T. Q., Nakano, Y., Zhang, Y., Horst, O. V., Zhu, L., Le, M. H., DenBesten, P. K.
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<strong>WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.</strong>
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Matrix Biol. 38: 48-58, 2014.
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[PubMed: 25008349]
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[Full Text: https://doi.org/10.1016/j.matbio.2014.06.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, S.-K., Seymen, F., Lee, K.-E., Kang, H.-Y., Yildirim, M., Tuna, E. B., Gencay, K., Hwang, Y.-H., Nam, K. H., De La Garza, R. J., Hu, J. C.-C., Simmer, J. P., Kim, J.-W.
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<strong>Novel WDR72 mutation and cytoplasmic localization.</strong>
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J. Dent. Res. 89: 1378-1382, 2010.
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[PubMed: 20938048]
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[Full Text: https://doi.org/10.1177/0022034510382117]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</div>
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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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Patricia A. Hartz - updated : 2/20/2015<br>Joanna S. Amberger - updated : 12/2/2014<br>Marla J. F. O'Neill - updated : 1/12/2010
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</span>
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</div>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Patricia A. Hartz : 1/12/2010
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</div>
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<span class="mim-text-font">
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mgross : 03/03/2015<br>mcolton : 2/20/2015<br>carol : 12/3/2014<br>joanna : 12/2/2014<br>alopez : 1/14/2010<br>wwang : 1/12/2010
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