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Entry
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- *608151 - WD REPEAT-CONTAINING PROTEIN 19; WDR19
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- OMIM
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<p>
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<span class="h4">*608151</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<a href="#geneFunction">Gene Function</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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608151">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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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 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="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=ENSG00000157796;t=ENST00000399820" 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=57728" 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=608151" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000157796;t=ENST00000399820" 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_001317924,NM_025132,XM_011513724,XM_011513725,XM_047416030,XM_047416031,XM_047416032,XM_047416033,XM_047416034,XM_047416035" 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_025132" 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=608151" 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=10489&isoform_id=10489_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/WDR19" 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/10047353,10439712,21619141,22651379,55743151,94730676,119613321,119613322,119613323,119613324,119613325,119613326,119613327,194378254,194382212,194385342,767930403,767930405,961658099,2217351662,2217351664,2217351666,2217351668,2217351670,2217351672,2462598470,2462598472,2462598474,2462598476,2462598478,2462598480,2462598482,2462598484" 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/Q8NEZ3" 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=57728" 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=ENSG00000157796;t=ENST00000399820" 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=WDR19" 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=WDR19" 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+57728" 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/WDR19" 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:57728" 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/57728" 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=chr4&hgg_gene=ENST00000399820.8&hgg_start=39182529&hgg_end=39285810&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:18340" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/wdr19" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608151[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=608151[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/WDR19/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000157796" 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=WDR19" 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=WDR19" 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=WDR19" 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=WDR19&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/PA38317" 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:18340" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0034452.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2443231" 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/WDR19#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:2443231" 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/57728/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=57728" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001118;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-090313-277" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
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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=WDR19&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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608151
|
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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 19; WDR19
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
IFT144
|
|
</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WDR19" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WDR19</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/157?start=-3&limit=10&highlight=157">4p14</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:39182529-39285810&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'})">4:39,182,529-39,285,810</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=619867,614378,614377,616307,614376" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/157?start=-3&limit=10&highlight=157">
|
|
4p14
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Spermatogenic failure 72
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/619867"> 619867 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
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</tr>
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|
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cranioectodermal dysplasia 4
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614378"> 614378 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Nephronophthisis 13
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>Using microarray analysis to profile androgen-induced gene expression, <a href="#10" class="mim-tip-reference" title="Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S. <strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong> Genomics 82: 331-342, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12906858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12906858</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00151-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12906858">Lin et al. (2003)</a> cloned WDR19 from an androgen-sensitive prostate adenocarcinoma cell line cDNA library. They obtained full-length WDR19 by library screening and 5-prime RACE of normal prostate cDNA. The deduced 1,342-amino acid protein contains 6 N-terminal WD repeats, 3 transmembrane helices, and a sequence of about 150 amino acids that shares homology with the clathrin heavy chain (<a href="/entry/118955">118955</a>) repeat. It also has a vacuolar targeting motif and is distantly related to vacuolating cytotoxin protein from H. pylori. WDR19 shares 89% amino acid identity with mouse Wdr19. Northern blot analysis detected strong expression of a 1.8-kb transcript and low expression of a 3.0-kb transcript in the androgen-sensitive prostate cancer cell line. Transcripts of 1.8, 3.0, 4.5, and 6.8 kb were detected in normal prostate. The 4.5- and 6.8-kb transcripts were also expressed in testis and ovary, and a faint 1.8-kb band was detected in pancreas. RNA dot blot analysis detected strong expression in prostate and weaker expression in cerebellum, pituitary gland, fetal lung, and pancreas. Northern blot analysis and RNA dot blot analysis of mouse tissues showed tissue-specific expression of several variants, with highest overall expression in submaxillary gland, testis, epididymis, and prostate. In situ hybridization of normal human prostate revealed expression in both basal and luminal epithelial cells. No expression was detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniform expression was detected in prostate adenocarcinoma cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12906858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S. <strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong> Genomics 82: 331-342, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12906858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12906858</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00151-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12906858">Lin et al. (2003)</a> determined that the WDR19 gene contains 36 exons and spans 110 kb. The promoter region contains a TATA box and binding sites for AP1 (see <a href="/entry/165160">165160</a>) and SP1 (<a href="/entry/189906">189906</a>). Introns 14 and 27 may function as alternative promoters, resulting in proteins that lack the 6 WD repeats and the transmembrane domains. EST database analysis detected WDR19 transcripts that were alternatively spliced, including use of an optional exon 21A, and other transcripts that utilized alternate polyadenylation sites. <a href="#10" class="mim-tip-reference" title="Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S. <strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong> Genomics 82: 331-342, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12906858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12906858</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00151-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12906858">Lin et al. (2003)</a> determined that murine Wdr19 gene contains 36 exons and spans at least 60 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12906858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#10" class="mim-tip-reference" title="Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S. <strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong> Genomics 82: 331-342, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12906858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12906858</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00151-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12906858">Lin et al. (2003)</a> mapped the WDR19 gene to chromosome 4p14-p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12906858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S. <strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong> Genomics 82: 331-342, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12906858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12906858</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00151-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12906858">Lin et al. (2003)</a> determined that WDR19 expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. No WDR19 expression was detected in prostate cancer cell lines that did not express a functional androgen receptor (<a href="/entry/313700">313700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12906858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In fibroblasts from a healthy individual, <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> detected the WDR19 product IFT144 throughout the cilium, with prominent signals at the base, where it colocalized with RPGRIP1L (<a href="/entry/610937">610937</a>), and at the ciliary tip. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22019273" 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="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> performed exome sequencing in a sister and brother with cranioectodermal dysplasia (CED4; <a href="/entry/614378">614378</a>), also known as Sensenbrenner syndrome, from a Norwegian family in which haplotype analysis had excluded the 3 known causative genes for this disorder. They identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, <a href="#0001">608151.0001</a> and R1103X, <a href="#0002">608151.0002</a>). Screening of all coding exons of WDR19 in 9 additional patients with Sensenbrenner syndrome and 16 patients with short-rib thoracic dysplasia (14 diagnosed with Jeune syndrome and 2 diagnosed with short-rib polydactyly; see SRTD5, <a href="/entry/614376">614376</a>) revealed homozygosity for a missense mutation in WDR19 in a Dutch patient with Jeune syndrome (L7P; <a href="#0003">608151.0003</a>). Independently, exome sequencing in a Moroccan family with isolated nephronophthisis (NPHP13; <a href="/entry/614377">614377</a>) revealed compound heterozygosity for mutations in WDR19 that segregated with disease (V345G, <a href="#0004">608151.0004</a>; and Y1023X, <a href="#0005">608151.0005</a>). <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> concluded that there is a large phenotypic spectrum associated with WDR19 mutations, as previously reported for other intraflagellar transport (IFT) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22019273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with nephronophthisis and retinal dystrophy, features of Senior-Loken syndrome (SLSN8; <a href="/entry/616307">616307</a>), and 1 patient with nephronophthisis, <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a> identified biallelic mutations in the WDR19 gene (<a href="#0006">608151.0006</a>-<a href="#0009">608151.0009</a>). All 4 patients exhibited additional ciliopathy features, including dilatation of the intrahepatic bile ducts and pancreatic and hepatic cysts. The findings broadened the spectrum of ciliary clinical features associated with WDR19 mutations. The patients were ascertained from a larger cohort of 1,056 patients with nephronophthisis-related disorders who underwent genetic analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; <a href="/entry/616307">616307</a>), <a href="#3" class="mim-tip-reference" title="Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K. <strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong> Clin. Genet. 84: 150-159, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23683095">Coussa et al. (2013)</a> identified homozygosity for the L710S mutation in the WDR19 gene (<a href="#0001">608151.0001</a>). Screening of 96 patients with a diagnosis of Senior-Loken syndrome revealed WDR19 mutations in 5 probands (see, e.g., <a href="#0006">608151.0006</a>-<a href="#0007">608151.0007</a> and <a href="#0012">608151.0012</a>-<a href="#0013">608151.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23683095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Fehrenbach, H., Decker, C., Eisenberger, T., Frank, V., Hampel, T., Walden, U., Amann, K. U., Kruger-Stollfuss, I., Bolz, H. J., Haffner, K., Pohl, M., Bergmann, C. <strong>Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.</strong> Pediat. Nephrol. 29: 1451-1456, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24504730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24504730</a>] [<a href="https://doi.org/10.1007/s00467-014-2762-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24504730">Fehrenbach et al. (2014)</a> reported a girl of Filipino ancestry with a complex phenotype and mutation in the WDR19 gene, who died at age 8.5 years due to acute respiratory distress syndrome (ARDS). Hypotonia, joint hypermobility, and facial dysmorphisms were noted at birth, and psychomotor development was significantly retarded. Other features included short stature, mild skeletal anomalies, strabismus, deafness, subdural hygroma, hepatosplenomegaly, and end-stage renal failure. Renal biopsy revealed tubular atrophy, interstitial fibrosis, and segmental glomerulosclerosis. After renal transplantation at age 8.5 years, she developed a febrile infection resulting in fulminant ARDS and died. Although the patient's features were nonspecific and not characteristic for any known syndrome, the phenotypic pattern was reminiscent of a ciliopathy, and screening of cilia-related genes revealed homozygosity for a missense mutation (G495R) in the WDR19 gene. Her unaffected mother was heterozygous for the variant, which was not found in public variant databases; DNA was unavailable from the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24504730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 48 unrelated Korean pediatric patients with clinical suspicion of nephronophthisis (NPHP), <a href="#9" class="mim-tip-reference" title="Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I. <strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong> Pediat. Nephrol. 30: 1451-1458, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25726036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25726036</a>] [<a href="https://doi.org/10.1007/s00467-015-3068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25726036">Lee et al. (2015)</a> performed targeted exome sequencing for ciliopathy-related genes and identified 3 patients who were compound heterozygous for missense mutations in the WDR19 gene: all carried the previously reported R1178Q variant (<a href="#0010">608151.0010</a>) on 1 allele. The second mutation in 1 proband and his 2 affected sisters was E1235K (<a href="#0009">608151.0009</a>); in another proband, who also had retinitis pigmentosa (SLSN8; <a href="/entry/616307">616307</a>), it was a G495C substitution (<a href="#0014">608151.0014</a>); and in the third proband it was an L618P substitution (<a href="#0015">608151.0015</a>). Sanger sequencing in an unrelated Korean girl with Senior-Loken syndrome revealed homozygosity for the R1178Q variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25726036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Japanese girls with Sensenbrenner syndrome, <a href="#13" class="mim-tip-reference" title="Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K. <strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong> Nephrology 22: 566-571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28621010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28621010</a>] [<a href="https://doi.org/10.1111/nep.12996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28621010">Yoshikawa et al. (2017)</a> identified compound heterozygosity for mutation in the WDR19 gene: both carried the recurrent R1178Q variant on one allele, with patient 1 carrying a 1-bp deletion (<a href="#0016">608151.0016</a>) and patient 2 a splice site mutation (<a href="#0017">608151.0017</a>) on the second allele. Sanger sequencing confirmed the mutations and their segregation with disease in both families. One of the patients exhibited dysplastic kidneys rather than the typical nephronophthisis histopathology, suggesting that WDR19-associated renal phenotypes may be more diverse than previously reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28621010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; <a href="/entry/614376">614376</a>), <a href="#11" class="mim-tip-reference" title="Montolio-Marzo, S., Catala-Mora, J., Madrid-Aris, A., Armstrong, J., Diaz-Carcajosa, J., Carreras, E. <strong>IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: a new association.</strong> Europ. J. Med. Genet. 63: 104073, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33002628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33002628</a>] [<a href="https://doi.org/10.1016/j.ejmg.2020.104073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33002628">Montolio-Marzo et al. (2020)</a> identified compound heterozygosity for missense mutations in the WDR19 gene, H481R (<a href="#0018">608151.0018</a>) and A914D (<a href="#0019">608151.0019</a>). Sanger sequencing confirmed the mutations and their segregation with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33002628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infertile Han Chinese man with spermatogenic failure (SPGF72; <a href="/entry/619867">619867</a>) due to multiple morphologic abnormalities of the flagella, <a href="#12" class="mim-tip-reference" title="Ni, X., Wang, J., Lv, M., Liu, C., Zhong, Y., Tian, S., Wu, H., Cheng, H., Gao, Y., Tan, Q., Chen, B., Li, Q., Song, B., Wei, Z., Zhou, P., He, X., Zhang, F., Cao, Y. <strong>A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.</strong> J. Assist. Reprod. Genet. 37: 1431-1439, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32323121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32323121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32323121[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/10.1007/s10815-020-01770-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32323121">Ni et al. (2020)</a> identified homozygosity for a missense mutation in the WDR19 gene (K1271E; <a href="#0020">608151.0020</a>) that segregated with disease in the family and was not found in public variant databases. The proband did not exhibit any ocular, skeletal, hepatic, or renal anomalies. Noting that the K1271E variant was the only WDR19 mutation reported to occur within the C-terminal DZR domain, the authors suggested that the variant might have only minimal effects on protein structure and function, and speculated that at least partial ciliary function was retained in the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32323121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using an N-ethyl-N-nitrosourea mutation screen, <a href="#1" class="mim-tip-reference" title="Ashe, A., Butterfield, N. C., Town, L., Courtney, A. D., Cooper, A. N., Ferguson, C., Barry, R., Olsson, F., Liem, K. F., Parton, R. G., Wainwright, B. J., Anderson, K. V., Whitelaw, E., Wicking, C. <strong>Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.</strong> Hum. Molec. Genet. 21: 1808-1823, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22228095[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/10.1093/hmg/ddr613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22228095">Ashe et al. (2012)</a> identified a mouse mutant, 'twinkle-toes' (twt), resulting from a hypomorphic leu750-to-pro (L750P) mutation in the tetratricopeptide repeat domain of Wdr19. Twt mice showed a number of skeletal and craniofacial anomalies similar to human phenotypes resulting from WDR19 mutations. Homozygous twt embryos survived to near birth with nearly penetrant exencephaly and other dysmorphic features, including cleft lip and palate, anopthalmia, short ribs, and limb polydactyly. Heterozygous mice were indistinguishable from wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22228095" 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 analysis of ejaculates from 794 Brown Swiss bulls and genomewide association testing, <a href="#7" class="mim-tip-reference" title="Hiltpold, M., Niu, G., Kadri, N. K., Crysnanto, D., Fang, Z.-H., Spengeler, M., Schmitz-Hsu, F., Fuerst, C., Schwarzenbacher, H., Seefried, F. R., Seehusen, F., Witschi, U., Schnieke, A., Fries, R., Bollwein, H., Flisikowski, K., Pausch, H. <strong>Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.</strong> PLoS Genet. 16: e1008804, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32407316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32407316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32407316[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.1008804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32407316">Hiltpold et al. (2020)</a> identified a quantitative trait locus on bovine chromosome 6 that was associated with sperm motility, head and tail anomalies, and insemination success. The QTL effect was replicated in an independent cohort of 2,481 Brown Swiss bulls. Analysis of whole-genome sequencing data revealed a synonymous variant in the WDR19 gene that was in linkage disequilibrium with the fertility-associated haplotype. Transcription analysis demonstrated that the variant activates a cryptic splice site and eliminates 3 evolutionarily conserved amino acids; Western blot showed reduced WDR19 protein in testicular tissue of heterozygous bulls that was reduced even further in homozygotes. Semen quality of the homozygous bulls was only slightly reduced compared to heterozygous or noncarrier bulls; however, more ejaculates were rejected for artificial insemination due to less than 70% motile sperm in homozygous than either heterozygous or noncarrier bulls, and fertility of homozygous bulls was reduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32407316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608151[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p><strong><em>Cranioectodermal Dysplasia 4</em></strong></p><p>
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In a Norwegian sister and brother with cranioectodermal dysplasia-4 (CED4; <a href="/entry/614378">614378</a>), also known as Sensenbrenner syndrome, <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> identified compound heterozygosity for a 2129T-C transition in exon 18 of the WDR19 gene, resulting in a leu710-to-ser (L710S) substitution, and a 3307C-T transition in exon 30, resulting in an arg1103-to-ter (R1103X; <a href="#0002">608151.0002</a>) substitution. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in 422 Norwegian controls. No IFT144 was detected in the cilia of patient fibroblasts, indicating a complete loss of function; in addition, there was significant reduction in the number of ciliated cells as well as in cilium length of most cilia that were observed compared to cilia of control fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22019273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Senior-Loken Syndrome 8</em></strong></p><p>
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In affected members of a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; <a href="/entry/616307">616307</a>), who were negative for mutation in all known autosomal recessive retinitis pigmentosa-associated genes, <a href="#3" class="mim-tip-reference" title="Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K. <strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong> Clin. Genet. 84: 150-159, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23683095">Coussa et al. (2013)</a> identified homozygosity for the c.2129T-C mutation (c.2129T-C, NM_025132.3) in the WDR19 gene, resulting in the L710S substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23683095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Functional Studies of L710S and R1103X Mutations</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Ishida, Y., Kobayashi, T., Chiba, S., Katoh, Y., Nakayama, K. <strong>Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.</strong> Hum. Molec. Genet. 30: 213-225, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33517396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33517396</a>] [<a href="https://doi.org/10.1093/hmg/ddab034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33517396">Ishida et al. (2021)</a> found that expression of IFT144 with the L710S mutation in IFT144-knockout cells rescued both moderately compromised ciliogenesis and abnormal localization of ciliary proteins. In contrast, expression of IFT144 with the R1103X mutation in IFT144-knockout cells exacerbated ciliogenesis defects. Coexpression of both R1103X and L710S in IFT144-knockout cells, mimicking compound heterozygous patients, resulted in severe ciliogenesis defects, but not as severe as those in IFT144-knockout cells expressing R1103X alone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33517396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906981 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906981;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/rs387906981?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=rs387906981" 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=rs387906981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the arg1103-to-ter (R1103X) mutation in the WDR19 gene that was found in compound heterozygous state in patients with Sensenbrenner syndrome (CED4; <a href="/entry/614378">614378</a>) by <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a>, see <a href="#0001">608151.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22019273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906982 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906982;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906982" 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=rs387906982" 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=RCV000023683" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023683" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023683</a>
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<p>In a 22-year-old Dutch woman diagnosed with Jeune syndrome (SRTD5; <a href="/entry/614376">614376</a>), originally reported by <a href="#4" class="mim-tip-reference" title="de Vries, J., Yntema, J. L., van Die, C. E., Crama, N., Cornelissen, E. A. M., Hamel, B. C. J. <strong>Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.</strong> Europ. J. Pediat. 169: 77-88, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430947[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/10.1007/s00431-009-0991-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19430947">de Vries et al. (2010)</a>, <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> identified homozygosity for a 20T-C transition in exon 2 of the WDR19 gene, resulting in a leu7-to-pro (L7P) substitution at a highly conserved residue. The mutation was found in heterozygosity in her unaffected parents, and was not detected in her unaffected sister. Analysis of patient fibroblasts showed no major differences in cilia number or length compared to controls; however, accumulation of IFTB-complex proteins was observed in ciliary tips in a low but significant number of cells, whereas it was virtually absent in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22019273+19430947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906983 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906983;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906983" 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=rs387906983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 affected sibs from a nonconsanguineous Moroccan family with nephronophthisis-13 (NPHP13; <a href="/entry/614377">614377</a>), <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> identified compound heterozygosity for a 1034T-G transversion in exon 12 of the WDR19 gene, resulting in a val345-to-gly (V345G) substitution, and a 1-bp duplication (3068dupA) in exon 27, resulting in a tyr1023-to-ter (Y1023X; <a href="#0005">608151.0005</a>) substitution. Their unaffected father was heterozygous for Y1023X, whereas their 2 unaffected sibs were heterozygous for V345G; the missense mutation was not found in 200 ethnically matched controls. However, their asymptomatic mother, who was born of consanguineous parents, was found to be homozygous for the V345G mutation. Based on bioinformatic analyses and the location of the mutation, <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a> proposed that the V345G variant only mildly affects IFT144 function, but that association with the nonsense mutation results in a renal phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22019273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786205114 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205114;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/rs786205114?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=rs786205114" 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=rs786205114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp duplication in the WDR19 gene (3068dupA) that was found in compound heterozygous state in patients with nephronophthisis-13 (NPHP13; <a href="/entry/614377">614377</a>) by <a href="#2" class="mim-tip-reference" title="Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others. <strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong> Am. J. Hum. Genet. 89: 634-643, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22019273">Bredrup et al. (2011)</a>, see <a href="#0004">608151.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22019273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777348 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777348;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777348" 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=rs587777348" 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=RCV000115010 OR RCV001854542 OR RCV002498492" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115010, RCV001854542, RCV002498492" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115010...</a>
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<p>In a Spanish patient with Senior-Loken syndrome-8 (SLSN8; <a href="/entry/616307">616307</a>), <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a> identified compound heterozygous mutations in the WDR19 gene: a 1-bp duplication (c.641dupT), resulting in a frameshift and premature termination (Leu214PhefsTer5), and a c.1477G-C transversion, resulting in an asp493-to-his (D493H; <a href="#0007">608151.0007</a>) substitution. The patient had onset of end-stage renal disease at age 17 years as well as retinal dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with retinal dystrophy and nephronophthisis, <a href="#3" class="mim-tip-reference" title="Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K. <strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong> Clin. Genet. 84: 150-159, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23683095">Coussa et al. (2013)</a> identified compound heterozygosity for the c.641dupT mutation (c.641dupT, NM_025132.3) and the D493H mutation in the WDR19 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23683095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777349 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777349;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/rs587777349?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=rs587777349" 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=rs587777349" 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=RCV000115011 OR RCV001281114 OR RCV001753491 OR RCV001854543" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115011, RCV001281114, RCV001753491, RCV001854543" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115011...</a>
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<p>For discussion of the asp493-to-his (D493H) mutation in the WDR19 gene that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; <a href="/entry/616307">616307</a>) by <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a>, see <a href="#0006">608151.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with retinal dystrophy and nephronophthisis, <a href="#3" class="mim-tip-reference" title="Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K. <strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong> Clin. Genet. 84: 150-159, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23683095">Coussa et al. (2013)</a> also identified compound heterozygosity for the c.641dupT mutation (<a href="#0006">608151.0006</a>) and a c.1477G-C transversion (c.1477G-C, NM_025132.3), resulting in the D493H mutation, in the WDR19 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23683095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777350 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777350;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777350" 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=rs587777350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Egyptian patient with nephronophthisis-13 (NPHP13; <a href="/entry/614377">614377</a>), <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a> identified compound heterozygous mutations in the WDR19 gene: a c.682C-T transition, resulting in a gln228-to-ter (Q228X) substitution, and a c.3703G-A transition, resulting in a glu1235-to-lys (E1235K; <a href="#0009">608151.0009</a>) substitution. The patient developed end-stage renal disease at age 5 years, and also had dilatation of the intrahepatic bile ducts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777351 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777351;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/rs587777351?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=rs587777351" 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=rs587777351" 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=RCV000115013 OR RCV000788500 OR RCV001281118 OR RCV001854544 OR RCV002477273" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115013, RCV000788500, RCV001281118, RCV001854544, RCV002477273" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115013...</a>
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<p>For discussion of the glu1235-to-lys (E1235K) mutation in the WDR19 gene that was found in compound heterozygous state in a patient with nephronophthisis-13 (NPHP13; <a href="/entry/614377">614377</a>) by <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a>, see <a href="#0008">608151.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" 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>For discussion of the E1235K mutation in the WDR19 gene that was found in compound heterozygous state in 3 Korean sibs with NPHP13 by <a href="#9" class="mim-tip-reference" title="Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I. <strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong> Pediat. Nephrol. 30: 1451-1458, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25726036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25726036</a>] [<a href="https://doi.org/10.1007/s00467-015-3068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25726036">Lee et al. (2015)</a>, see <a href="#0010">608151.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25726036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs79436363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs79436363;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/rs79436363?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=rs79436363" 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=rs79436363" 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=RCV000115014 OR RCV000433622 OR RCV000653250 OR RCV000754960 OR RCV000850617 OR RCV001262101 OR RCV003224149 OR RCV003224150 OR RCV005031600" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115014, RCV000433622, RCV000653250, RCV000754960, RCV000850617, RCV001262101, RCV003224149, RCV003224150, RCV005031600" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115014...</a>
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<p>In a patient from Oman with Senior-Loken syndrome-8 (SLSN8; <a href="/entry/616307">616307</a>), <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a> identified a homozygous c.3533G-A transition in the WDR19 gene, resulting in an arg1178-to-gln (R1178Q) substitution. The patients developed end-stage renal disease in infancy, and also had polydactyly, dilatation of the intrahepatic bile ducts, and retinal dystrophy. Another patient with early-onset end-stage renal disease, cortical blindness, and hepatic and pancreatic cysts was compound heterozygous for R1178Q and a c.3565+1G-A transition in the WDR19 gene (<a href="#0011">608151.0011</a>), resulting in a splice site mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 Korean sibs (I-1, I-2, and I-3) and an unrelated 1.5-year-old Korean boy (III-1) with nephronophthisis (NPHP13; <a href="/entry/614377">614377</a>), <a href="#9" class="mim-tip-reference" title="Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I. <strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong> Pediat. Nephrol. 30: 1451-1458, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25726036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25726036</a>] [<a href="https://doi.org/10.1007/s00467-015-3068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25726036">Lee et al. (2015)</a> identified compound heterozygosity for the R1178Q mutation and another missense mutation in the WDR19 gene. In the 3 sibs, the second mutation was the previously reported E1235K variant (<a href="#0009">608151.0009</a>), and in the unrelated boy, it was a c.1853T-C transition, resulting in a leu618-to-pro (L618P; <a href="#0015">608151.0015</a>) substitution. The authors also identified WDR19 mutations in 2 Korean patients with NPHP and retinitis pigmentosa (Senior-Loken syndrome): a 15-year-old boy (II-1) was compound heterozygous for the R1178Q variant and a c.1483G-T transversion, resulting in a gly495-to-cys (G495C; <a href="#0014">608151.0014</a>) substitution; and a 6-year-old girl was homozygous for the R1178Q variant. Sanger sequencing confirmed the mutations and their segregation with disease in each family, and none was detected in 100 Korean controls or in an in-house exome database of 80 Korean individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25726036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Japanese girls with Sensenbrenner syndrome (CED4; <a href="/entry/614378">614378</a>), <a href="#13" class="mim-tip-reference" title="Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K. <strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong> Nephrology 22: 566-571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28621010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28621010</a>] [<a href="https://doi.org/10.1111/nep.12996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28621010">Yoshikawa et al. (2017)</a> identified compound heterozygosity for mutation in the WDR19 gene. Both carried the recurrent R1178Q variant in exon 32 on one allele. Patient 1 also had a 1-bp deletion (c.953delA; <a href="#0016">608151.0016</a>) in exon 10, causing a frameshift predicted to result in a premature termination codon (Asn319IlefsTer16), whereas patient 2 had a splice site mutation (c.2645+1G-T; <a href="#0017">608151.0017</a>) in intron 23 on the second allele. Sanger sequencing confirmed the mutations and their segregation with disease in both families. The deletion and splicing mutations were not found in the dbSNP or HGVD databases. (<a href="#13" class="mim-tip-reference" title="Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K. <strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong> Nephrology 22: 566-571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28621010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28621010</a>] [<a href="https://doi.org/10.1111/nep.12996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28621010">Yoshikawa et al. (2017)</a> referred to the splice site mutation as c.2654+1G-T in the text of the report.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28621010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777352 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777352;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/rs587777352?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=rs587777352" 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=rs587777352" 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=RCV000115015 OR RCV000516054 OR RCV000681868 OR RCV001212609 OR RCV001797626 OR RCV002277157" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115015, RCV000516054, RCV000681868, RCV001212609, RCV001797626, RCV002277157" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115015...</a>
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<p>For discussion of the splice site mutation in the WDR19 gene (c.3565+1G-A) that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; <a href="/entry/616307">616307</a>) by <a href="#6" class="mim-tip-reference" title="Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group. <strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong> Hum. Genet. 132: 865-884, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>] [<a href="https://doi.org/10.1007/s00439-013-1297-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23559409">Halbritter et al. (2013)</a>, see <a href="#0010">608151.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786204852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204852;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/rs786204852?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=rs786204852" 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=rs786204852" 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=RCV000169776" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169776" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169776</a>
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<p>In a patient with retinal dystrophy and nephronophthisis (SLSN8; <a href="/entry/616307">616307</a>), <a href="#3" class="mim-tip-reference" title="Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K. <strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong> Clin. Genet. 84: 150-159, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23683095">Coussa et al. (2013)</a> identified compound heterozygosity for a c.203T-A transversion (c.203T-A, NM_025132.3) in the WDR19 gene, resulting in a val68-to-asp (V68D) substitution, and a splice site mutation (c.407-2A-G; <a href="#0013">608151.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23683095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs374400438 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs374400438;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/rs374400438?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=rs374400438" 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=rs374400438" 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=RCV000169777" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169777" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169777</a>
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<p>For discussion of the splice site mutation in the WDR19 gene (c.407-2A-G, NM_025132.3) that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; <a href="/entry/616307">616307</a>) by <a href="#3" class="mim-tip-reference" title="Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K. <strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong> Clin. Genet. 84: 150-159, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/cge.12196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23683095">Coussa et al. (2013)</a>, see <a href="#0012">608151.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23683095" 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>.0014 SENIOR-LOKEN SYNDROME 8</strong>
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WDR19, GLY495CYS
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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> rs1215108056 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1215108056;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/rs1215108056?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=rs1215108056" 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=rs1215108056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002248393" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248393" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248393</a>
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<p>For discussion of the c.1483G-T transversion in the WDR19 gene, resulting in a gly495-to-cys (G495C) substitution, that was found in compound heterozygous state in a 15-year-old Korean boy (II-1) with Senior-Loken syndrome (SLSN8; <a href="/entry/616307">616307</a>) by <a href="#9" class="mim-tip-reference" title="Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I. <strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong> Pediat. Nephrol. 30: 1451-1458, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25726036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25726036</a>] [<a href="https://doi.org/10.1007/s00467-015-3068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25726036">Lee et al. (2015)</a>, see <a href="#0010">608151.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25726036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
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<strong>.0015 NEPHRONOPHTHISIS 13</strong>
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WDR19, LEU618PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2109358597 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2109358597;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2109358597" 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=rs2109358597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002248394" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248394" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248394</a>
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<p>For discussion of the c.1853T-C transition in the WDR19 gene, resulting in a leu618-to-pro (L618P) substitution, that was found in compound heterozygous state in a 1.5-year-old Korean boy (III-1) with nephronophthisis (NPHP13; <a href="/entry/614377">614377</a>) by <a href="#9" class="mim-tip-reference" title="Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I. <strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong> Pediat. Nephrol. 30: 1451-1458, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25726036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25726036</a>] [<a href="https://doi.org/10.1007/s00467-015-3068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25726036">Lee et al. (2015)</a>, see <a href="#0010">608151.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25726036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 CRANIOECTODERMAL DYSPLASIA 4</strong>
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</span>
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</h4>
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WDR19, 1-BP DEL, 953A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2109322891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2109322891;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2109322891" 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=rs2109322891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002248395" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248395" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248395</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (c.953delA, NM_025132.3) in exon 10 the WDR19 gene, causing a frameshift predicted to result in a premature termination codon (Asn319IlefsTer16), that was found in compound heterozygous state in a Japanese girl (patient 1) with Sensenbrenner syndrome (CED4; <a href="/entry/614378">614378</a>) by <a href="#13" class="mim-tip-reference" title="Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K. <strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong> Nephrology 22: 566-571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28621010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28621010</a>] [<a href="https://doi.org/10.1111/nep.12996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28621010">Yoshikawa et al. (2017)</a>, see <a href="#0010">608151.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28621010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0017" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0017 CRANIOECTODERMAL DYSPLASIA 4</strong>
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</h4>
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WDR19, IVS23, G-T, +1
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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> rs1237821935 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1237821935;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/rs1237821935?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=rs1237821935" 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=rs1237821935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002248396" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248396" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248396</a>
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</span>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation (c.2645+1G-T, NM_025132.3) in intron 23 of the WDR19 gene, that was found in compound heterozygous state in a Japanese girl (patient 2) with Sensenbrenner syndrome (CED4; <a href="/entry/614378">614378</a>) by <a href="#13" class="mim-tip-reference" title="Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K. <strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong> Nephrology 22: 566-571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28621010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28621010</a>] [<a href="https://doi.org/10.1111/nep.12996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28621010">Yoshikawa et al. (2017)</a>, see <a href="#0010">608151.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28621010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0018" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0018 SHORT-RIB THORACIC DYSPLASIA 5 WITHOUT POLYDACTYLY</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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WDR19, HIS481ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1729264976 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1729264976;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1729264976" 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=rs1729264976" 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=RCV001281113 OR RCV001290087 OR RCV002251760" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001281113, RCV001290087, RCV002251760" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001281113...</a>
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<p>In a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; <a href="/entry/614376">614376</a>), <a href="#11" class="mim-tip-reference" title="Montolio-Marzo, S., Catala-Mora, J., Madrid-Aris, A., Armstrong, J., Diaz-Carcajosa, J., Carreras, E. <strong>IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: a new association.</strong> Europ. J. Med. Genet. 63: 104073, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33002628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33002628</a>] [<a href="https://doi.org/10.1016/j.ejmg.2020.104073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33002628">Montolio-Marzo et al. (2020)</a> identified compound heterozygosity for missense mutations in the WDR19 gene: a c.1442A-G transition (c.1442A-G, NM_025132) in exon 14, resulting in a his481-to-arg (H481R) substitution, and a c.2741C-A transversion in exon 25 of the WDR19 gene, resulting in an ala914-to-asp (A914D; <a href="#0019">608151.0019</a>) substitution. Sanger sequencing confirmed the mutations and their segregation with disease in the family. Neither variant was found in the gnomAD database, but the A914D substitution was present at very low minor allele frequency (8.293 x 10(-6)) in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33002628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs766616967 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766616967;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/rs766616967?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=rs766616967" 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=rs766616967" 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=RCV001281116 OR RCV001290088 OR RCV002251761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001281116, RCV001290088, RCV002251761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001281116...</a>
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<p>For discussion of the c.2741C-A transversion (c.2741C-A, NM_025132) in exon 25 of the WDR19 gene, resulting in an ala914-to-asp (A914D) substitution, that was found in compound heterozygous state in a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; <a href="/entry/614376">614376</a>) by <a href="#11" class="mim-tip-reference" title="Montolio-Marzo, S., Catala-Mora, J., Madrid-Aris, A., Armstrong, J., Diaz-Carcajosa, J., Carreras, E. <strong>IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: a new association.</strong> Europ. J. Med. Genet. 63: 104073, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33002628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33002628</a>] [<a href="https://doi.org/10.1016/j.ejmg.2020.104073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33002628">Montolio-Marzo et al. (2020)</a>, see <a href="#0018">608151.0018</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33002628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2109521864 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2109521864;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2109521864" 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=rs2109521864" 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=RCV002248399" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002248399" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002248399</a>
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<p>In an infertile Han Chinese man with multiple morphologic abnormalities of the flagella (SPGF72; <a href="/entry/619867">619867</a>), <a href="#12" class="mim-tip-reference" title="Ni, X., Wang, J., Lv, M., Liu, C., Zhong, Y., Tian, S., Wu, H., Cheng, H., Gao, Y., Tan, Q., Chen, B., Li, Q., Song, B., Wei, Z., Zhou, P., He, X., Zhang, F., Cao, Y. <strong>A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.</strong> J. Assist. Reprod. Genet. 37: 1431-1439, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32323121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32323121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32323121[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/10.1007/s10815-020-01770-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32323121">Ni et al. (2020)</a> identified homozygosity for a c.3811A-G transition in exon 34 of the WDR19 gene, resulting in a lys1271-to-glu (K1271E) at a highly conserved residue within the DZR domain. Sanger sequencing confirmed that his unaffected first-cousin parents were heterozygous for the mutation, which not found in the 1000 Genomes Project, ESP6500, or gnomAD databases. Immunofluorescence analysis demonstrated that WDR19 was absent from patient sperm, and qPCR showed that the level of mRNA in patient sperm was significantly lower than that of a healthy control. In addition, immunostaining revealed mislocalization of IFT140 (<a href="/entry/614620">614620</a>) and IFT88 (<a href="/entry/600595">600595</a>) in patient sperm, as well as absence of SPAG6 (<a href="/entry/605730">605730</a>). The proband exhibited no ocular, skeletal, hepatic, or renal anomalies. Noting that the K1271E variant was the only WDR19 mutation reported to occur within the C-terminal DZR domain, the authors suggested that the variant might have only minimal effects on protein structure and function, and speculated that at least partial ciliary function was retained in the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32323121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Ashe2012" class="mim-anchor"></a>
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Ashe, A., Butterfield, N. C., Town, L., Courtney, A. D., Cooper, A. N., Ferguson, C., Barry, R., Olsson, F., Liem, K. F., Parton, R. G., Wainwright, B. J., Anderson, K. V., Whitelaw, E., Wicking, C.
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<strong>Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.</strong>
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Hum. Molec. Genet. 21: 1808-1823, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22228095[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=22228095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddr613" target="_blank">Full Text</a>]
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Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others.
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<strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong>
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Am. J. Hum. Genet. 89: 634-643, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22019273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22019273</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22019273[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=22019273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.10.001" target="_blank">Full Text</a>]
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Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K.
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<strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong>
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Clin. Genet. 84: 150-159, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23683095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23683095</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23683095[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=23683095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.12196" target="_blank">Full Text</a>]
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de Vries, J., Yntema, J. L., van Die, C. E., Crama, N., Cornelissen, E. A. M., Hamel, B. C. J.
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<strong>Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.</strong>
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Europ. J. Pediat. 169: 77-88, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430947[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=19430947" 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/10.1007/s00431-009-0991-3" target="_blank">Full Text</a>]
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Fehrenbach, H., Decker, C., Eisenberger, T., Frank, V., Hampel, T., Walden, U., Amann, K. U., Kruger-Stollfuss, I., Bolz, H. J., Haffner, K., Pohl, M., Bergmann, C.
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<strong>Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.</strong>
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Pediat. Nephrol. 29: 1451-1456, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24504730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24504730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24504730" 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/10.1007/s00467-014-2762-2" target="_blank">Full Text</a>]
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Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group.
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<strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong>
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Hum. Genet. 132: 865-884, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23559409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23559409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23559409" 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/10.1007/s00439-013-1297-0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Hiltpold2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hiltpold, M., Niu, G., Kadri, N. K., Crysnanto, D., Fang, Z.-H., Spengeler, M., Schmitz-Hsu, F., Fuerst, C., Schwarzenbacher, H., Seefried, F. R., Seehusen, F., Witschi, U., Schnieke, A., Fries, R., Bollwein, H., Flisikowski, K., Pausch, H.
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<strong>Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.</strong>
|
|
PLoS Genet. 16: e1008804, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32407316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32407316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32407316[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=32407316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pgen.1008804" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Ishida2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ishida, Y., Kobayashi, T., Chiba, S., Katoh, Y., Nakayama, K.
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<strong>Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.</strong>
|
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Hum. Molec. Genet. 30: 213-225, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33517396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33517396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33517396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddab034" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Lee2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I.
|
|
<strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong>
|
|
Pediat. Nephrol. 30: 1451-1458, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25726036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25726036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25726036" 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/10.1007/s00467-015-3068-8" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Lin2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S.
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<strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong>
|
|
Genomics 82: 331-342, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12906858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12906858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12906858" 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/s0888-7543(03)00151-4" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Montolio-Marzo2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Montolio-Marzo, S., Catala-Mora, J., Madrid-Aris, A., Armstrong, J., Diaz-Carcajosa, J., Carreras, E.
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<strong>IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: a new association.</strong>
|
|
Europ. J. Med. Genet. 63: 104073, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33002628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33002628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33002628" 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.ejmg.2020.104073" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Ni2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ni, X., Wang, J., Lv, M., Liu, C., Zhong, Y., Tian, S., Wu, H., Cheng, H., Gao, Y., Tan, Q., Chen, B., Li, Q., Song, B., Wei, Z., Zhou, P., He, X., Zhang, F., Cao, Y.
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<strong>A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.</strong>
|
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J. Assist. Reprod. Genet. 37: 1431-1439, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32323121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32323121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32323121[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=32323121" 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/10.1007/s10815-020-01770-1" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yoshikawa2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K.
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<strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong>
|
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Nephrology 22: 566-571, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28621010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28621010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28621010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/nep.12996" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<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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Alan F. Scott - updated : 04/27/2023
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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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Marla J. F. O'Neill - updated : 05/02/2022<br>Marla J. F. O'Neill - updated : 4/10/2015<br>Cassandra L. Kniffin - updated : 3/26/2014<br>Marla J. F. O'Neill - updated : 12/6/2011
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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 : 10/6/2003
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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 : 04/27/2023
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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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mgross : 04/27/2023<br>alopez : 05/02/2022<br>carol : 04/25/2017<br>carol : 10/20/2016<br>carol : 04/10/2015<br>mcolton : 4/10/2015<br>carol : 4/30/2014<br>mcolton : 4/22/2014<br>ckniffin : 3/26/2014<br>mcolton : 2/11/2014<br>carol : 2/10/2014<br>carol : 1/10/2014<br>carol : 12/6/2011<br>terry : 12/6/2011<br>mgross : 10/6/2003
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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> 608151
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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 19; WDR19
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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IFT144
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WDR19</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 4p14
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:39,182,529-39,285,810 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
|
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
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<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
4p14
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
?Spermatogenic failure 72
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619867
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
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|
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|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Cranioectodermal dysplasia 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614378
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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|
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|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Nephronophthisis 13
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614377
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Senior-Loken syndrome 8
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
616307
|
|
</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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<tr>
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<td>
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<span class="mim-font">
|
|
Short-rib thoracic dysplasia 5 with or without polydactyly
|
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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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614376
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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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using microarray analysis to profile androgen-induced gene expression, Lin et al. (2003) cloned WDR19 from an androgen-sensitive prostate adenocarcinoma cell line cDNA library. They obtained full-length WDR19 by library screening and 5-prime RACE of normal prostate cDNA. The deduced 1,342-amino acid protein contains 6 N-terminal WD repeats, 3 transmembrane helices, and a sequence of about 150 amino acids that shares homology with the clathrin heavy chain (118955) repeat. It also has a vacuolar targeting motif and is distantly related to vacuolating cytotoxin protein from H. pylori. WDR19 shares 89% amino acid identity with mouse Wdr19. Northern blot analysis detected strong expression of a 1.8-kb transcript and low expression of a 3.0-kb transcript in the androgen-sensitive prostate cancer cell line. Transcripts of 1.8, 3.0, 4.5, and 6.8 kb were detected in normal prostate. The 4.5- and 6.8-kb transcripts were also expressed in testis and ovary, and a faint 1.8-kb band was detected in pancreas. RNA dot blot analysis detected strong expression in prostate and weaker expression in cerebellum, pituitary gland, fetal lung, and pancreas. Northern blot analysis and RNA dot blot analysis of mouse tissues showed tissue-specific expression of several variants, with highest overall expression in submaxillary gland, testis, epididymis, and prostate. In situ hybridization of normal human prostate revealed expression in both basal and luminal epithelial cells. No expression was detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniform expression was detected in prostate adenocarcinoma cells. </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>Lin et al. (2003) determined that the WDR19 gene contains 36 exons and spans 110 kb. The promoter region contains a TATA box and binding sites for AP1 (see 165160) and SP1 (189906). Introns 14 and 27 may function as alternative promoters, resulting in proteins that lack the 6 WD repeats and the transmembrane domains. EST database analysis detected WDR19 transcripts that were alternatively spliced, including use of an optional exon 21A, and other transcripts that utilized alternate polyadenylation sites. Lin et al. (2003) determined that murine Wdr19 gene contains 36 exons and spans at least 60 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Lin et al. (2003) mapped the WDR19 gene to chromosome 4p14-p11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lin et al. (2003) determined that WDR19 expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. No WDR19 expression was detected in prostate cancer cell lines that did not express a functional androgen receptor (313700). </p><p>In fibroblasts from a healthy individual, Bredrup et al. (2011) detected the WDR19 product IFT144 throughout the cilium, with prominent signals at the base, where it colocalized with RPGRIP1L (610937), and at the ciliary tip. </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>Bredrup et al. (2011) performed exome sequencing in a sister and brother with cranioectodermal dysplasia (CED4; 614378), also known as Sensenbrenner syndrome, from a Norwegian family in which haplotype analysis had excluded the 3 known causative genes for this disorder. They identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, 608151.0001 and R1103X, 608151.0002). Screening of all coding exons of WDR19 in 9 additional patients with Sensenbrenner syndrome and 16 patients with short-rib thoracic dysplasia (14 diagnosed with Jeune syndrome and 2 diagnosed with short-rib polydactyly; see SRTD5, 614376) revealed homozygosity for a missense mutation in WDR19 in a Dutch patient with Jeune syndrome (L7P; 608151.0003). Independently, exome sequencing in a Moroccan family with isolated nephronophthisis (NPHP13; 614377) revealed compound heterozygosity for mutations in WDR19 that segregated with disease (V345G, 608151.0004; and Y1023X, 608151.0005). Bredrup et al. (2011) concluded that there is a large phenotypic spectrum associated with WDR19 mutations, as previously reported for other intraflagellar transport (IFT) genes. </p><p>In 3 unrelated patients with nephronophthisis and retinal dystrophy, features of Senior-Loken syndrome (SLSN8; 616307), and 1 patient with nephronophthisis, Halbritter et al. (2013) identified biallelic mutations in the WDR19 gene (608151.0006-608151.0009). All 4 patients exhibited additional ciliopathy features, including dilatation of the intrahepatic bile ducts and pancreatic and hepatic cysts. The findings broadened the spectrum of ciliary clinical features associated with WDR19 mutations. The patients were ascertained from a larger cohort of 1,056 patients with nephronophthisis-related disorders who underwent genetic analysis. </p><p>In a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), Coussa et al. (2013) identified homozygosity for the L710S mutation in the WDR19 gene (608151.0001). Screening of 96 patients with a diagnosis of Senior-Loken syndrome revealed WDR19 mutations in 5 probands (see, e.g., 608151.0006-608151.0007 and 608151.0012-608151.0013). </p><p>Fehrenbach et al. (2014) reported a girl of Filipino ancestry with a complex phenotype and mutation in the WDR19 gene, who died at age 8.5 years due to acute respiratory distress syndrome (ARDS). Hypotonia, joint hypermobility, and facial dysmorphisms were noted at birth, and psychomotor development was significantly retarded. Other features included short stature, mild skeletal anomalies, strabismus, deafness, subdural hygroma, hepatosplenomegaly, and end-stage renal failure. Renal biopsy revealed tubular atrophy, interstitial fibrosis, and segmental glomerulosclerosis. After renal transplantation at age 8.5 years, she developed a febrile infection resulting in fulminant ARDS and died. Although the patient's features were nonspecific and not characteristic for any known syndrome, the phenotypic pattern was reminiscent of a ciliopathy, and screening of cilia-related genes revealed homozygosity for a missense mutation (G495R) in the WDR19 gene. Her unaffected mother was heterozygous for the variant, which was not found in public variant databases; DNA was unavailable from the father. </p><p>In a cohort of 48 unrelated Korean pediatric patients with clinical suspicion of nephronophthisis (NPHP), Lee et al. (2015) performed targeted exome sequencing for ciliopathy-related genes and identified 3 patients who were compound heterozygous for missense mutations in the WDR19 gene: all carried the previously reported R1178Q variant (608151.0010) on 1 allele. The second mutation in 1 proband and his 2 affected sisters was E1235K (608151.0009); in another proband, who also had retinitis pigmentosa (SLSN8; 616307), it was a G495C substitution (608151.0014); and in the third proband it was an L618P substitution (608151.0015). Sanger sequencing in an unrelated Korean girl with Senior-Loken syndrome revealed homozygosity for the R1178Q variant. </p><p>In 2 unrelated Japanese girls with Sensenbrenner syndrome, Yoshikawa et al. (2017) identified compound heterozygosity for mutation in the WDR19 gene: both carried the recurrent R1178Q variant on one allele, with patient 1 carrying a 1-bp deletion (608151.0016) and patient 2 a splice site mutation (608151.0017) on the second allele. Sanger sequencing confirmed the mutations and their segregation with disease in both families. One of the patients exhibited dysplastic kidneys rather than the typical nephronophthisis histopathology, suggesting that WDR19-associated renal phenotypes may be more diverse than previously reported. </p><p>In a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; 614376), Montolio-Marzo et al. (2020) identified compound heterozygosity for missense mutations in the WDR19 gene, H481R (608151.0018) and A914D (608151.0019). Sanger sequencing confirmed the mutations and their segregation with disease in the family. </p><p>In an infertile Han Chinese man with spermatogenic failure (SPGF72; 619867) due to multiple morphologic abnormalities of the flagella, Ni et al. (2020) identified homozygosity for a missense mutation in the WDR19 gene (K1271E; 608151.0020) that segregated with disease in the family and was not found in public variant databases. The proband did not exhibit any ocular, skeletal, hepatic, or renal anomalies. Noting that the K1271E variant was the only WDR19 mutation reported to occur within the C-terminal DZR domain, the authors suggested that the variant might have only minimal effects on protein structure and function, and speculated that at least partial ciliary function was retained in the patient. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
<span class="mim-text-font">
|
|
<p>Using an N-ethyl-N-nitrosourea mutation screen, Ashe et al. (2012) identified a mouse mutant, 'twinkle-toes' (twt), resulting from a hypomorphic leu750-to-pro (L750P) mutation in the tetratricopeptide repeat domain of Wdr19. Twt mice showed a number of skeletal and craniofacial anomalies similar to human phenotypes resulting from WDR19 mutations. Homozygous twt embryos survived to near birth with nearly penetrant exencephaly and other dysmorphic features, including cleft lip and palate, anopthalmia, short ribs, and limb polydactyly. Heterozygous mice were indistinguishable from wildtype. </p><p>By analysis of ejaculates from 794 Brown Swiss bulls and genomewide association testing, Hiltpold et al. (2020) identified a quantitative trait locus on bovine chromosome 6 that was associated with sperm motility, head and tail anomalies, and insemination success. The QTL effect was replicated in an independent cohort of 2,481 Brown Swiss bulls. Analysis of whole-genome sequencing data revealed a synonymous variant in the WDR19 gene that was in linkage disequilibrium with the fertility-associated haplotype. Transcription analysis demonstrated that the variant activates a cryptic splice site and eliminates 3 evolutionarily conserved amino acids; Western blot showed reduced WDR19 protein in testicular tissue of heterozygous bulls that was reduced even further in homozygotes. Semen quality of the homozygous bulls was only slightly reduced compared to heterozygous or noncarrier bulls; however, more ejaculates were rejected for artificial insemination due to less than 70% motile sperm in homozygous than either heterozygous or noncarrier bulls, and fertility of homozygous bulls was reduced. </p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>20 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CRANIOECTODERMAL DYSPLASIA 4</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
SENIOR-LOKEN SYNDROME 8, INCLUDED
|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
WDR19, LEU710SER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906980,
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|
|
|
|
|
gnomAD: rs387906980,
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|
|
|
|
|
ClinVar: RCV000023681, RCV000169775, RCV000987440, RCV001047050, RCV001356848, RCV002276570, RCV003324499, RCV004532400
|
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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 />
|
|
<p><strong><em>Cranioectodermal Dysplasia 4</em></strong></p><p>
|
|
In a Norwegian sister and brother with cranioectodermal dysplasia-4 (CED4; 614378), also known as Sensenbrenner syndrome, Bredrup et al. (2011) identified compound heterozygosity for a 2129T-C transition in exon 18 of the WDR19 gene, resulting in a leu710-to-ser (L710S) substitution, and a 3307C-T transition in exon 30, resulting in an arg1103-to-ter (R1103X; 608151.0002) substitution. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in 422 Norwegian controls. No IFT144 was detected in the cilia of patient fibroblasts, indicating a complete loss of function; in addition, there was significant reduction in the number of ciliated cells as well as in cilium length of most cilia that were observed compared to cilia of control fibroblasts. </p><p><strong><em>Senior-Loken Syndrome 8</em></strong></p><p>
|
|
In affected members of a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), who were negative for mutation in all known autosomal recessive retinitis pigmentosa-associated genes, Coussa et al. (2013) identified homozygosity for the c.2129T-C mutation (c.2129T-C, NM_025132.3) in the WDR19 gene, resulting in the L710S substitution. </p><p><strong><em>Functional Studies of L710S and R1103X Mutations</em></strong></p><p>
|
|
Ishida et al. (2021) found that expression of IFT144 with the L710S mutation in IFT144-knockout cells rescued both moderately compromised ciliogenesis and abnormal localization of ciliary proteins. In contrast, expression of IFT144 with the R1103X mutation in IFT144-knockout cells exacerbated ciliogenesis defects. Coexpression of both R1103X and L710S in IFT144-knockout cells, mimicking compound heterozygous patients, resulted in severe ciliogenesis defects, but not as severe as those in IFT144-knockout cells expressing R1103X alone. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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|
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CRANIOECTODERMAL DYSPLASIA 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, ARG1103TER
|
|
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|
|
<br />
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|
|
SNP: rs387906981,
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|
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|
|
|
gnomAD: rs387906981,
|
|
|
|
|
|
ClinVar: RCV000023682, RCV001857362
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|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg1103-to-ter (R1103X) mutation in the WDR19 gene that was found in compound heterozygous state in patients with Sensenbrenner syndrome (CED4; 614378) by Bredrup et al. (2011), see 608151.0001. </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>.0003 SHORT-RIB THORACIC DYSPLASIA 5 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
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|
|
WDR19, LEU7PRO
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|
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|
|
<br />
|
|
|
|
SNP: rs387906982,
|
|
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|
|
|
|
|
ClinVar: RCV000023683
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-year-old Dutch woman diagnosed with Jeune syndrome (SRTD5; 614376), originally reported by de Vries et al. (2010), Bredrup et al. (2011) identified homozygosity for a 20T-C transition in exon 2 of the WDR19 gene, resulting in a leu7-to-pro (L7P) substitution at a highly conserved residue. The mutation was found in heterozygosity in her unaffected parents, and was not detected in her unaffected sister. Analysis of patient fibroblasts showed no major differences in cilia number or length compared to controls; however, accumulation of IFTB-complex proteins was observed in ciliary tips in a low but significant number of cells, whereas it was virtually absent in controls. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NEPHRONOPHTHISIS 13</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, VAL345GLY
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|
|
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<br />
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|
|
|
SNP: rs387906983,
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|
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|
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ClinVar: RCV000023684
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected sibs from a nonconsanguineous Moroccan family with nephronophthisis-13 (NPHP13; 614377), Bredrup et al. (2011) identified compound heterozygosity for a 1034T-G transversion in exon 12 of the WDR19 gene, resulting in a val345-to-gly (V345G) substitution, and a 1-bp duplication (3068dupA) in exon 27, resulting in a tyr1023-to-ter (Y1023X; 608151.0005) substitution. Their unaffected father was heterozygous for Y1023X, whereas their 2 unaffected sibs were heterozygous for V345G; the missense mutation was not found in 200 ethnically matched controls. However, their asymptomatic mother, who was born of consanguineous parents, was found to be homozygous for the V345G mutation. Based on bioinformatic analyses and the location of the mutation, Bredrup et al. (2011) proposed that the V345G variant only mildly affects IFT144 function, but that association with the nonsense mutation results in a renal phenotype. </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>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NEPHRONOPHTHISIS 13</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
WDR19, 1-BP DUP, 3068A
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<br />
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|
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SNP: rs786205114,
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|
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gnomAD: rs786205114,
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ClinVar: RCV000023685
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|
|
|
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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>For discussion of the 1-bp duplication in the WDR19 gene (3068dupA) that was found in compound heterozygous state in patients with nephronophthisis-13 (NPHP13; 614377) by Bredrup et al. (2011), see 608151.0004. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0006 SENIOR-LOKEN SYNDROME 8</strong>
|
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</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
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<span class="mim-text-font">
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WDR19, 1-BP DUP, 641T
|
|
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|
|
<br />
|
|
|
|
SNP: rs587777348,
|
|
|
|
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|
|
|
ClinVar: RCV000115010, RCV001854542, RCV002498492
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
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<span class="mim-text-font">
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|
<p>In a Spanish patient with Senior-Loken syndrome-8 (SLSN8; 616307), Halbritter et al. (2013) identified compound heterozygous mutations in the WDR19 gene: a 1-bp duplication (c.641dupT), resulting in a frameshift and premature termination (Leu214PhefsTer5), and a c.1477G-C transversion, resulting in an asp493-to-his (D493H; 608151.0007) substitution. The patient had onset of end-stage renal disease at age 17 years as well as retinal dystrophy. </p><p>In a patient with retinal dystrophy and nephronophthisis, Coussa et al. (2013) identified compound heterozygosity for the c.641dupT mutation (c.641dupT, NM_025132.3) and the D493H mutation in the WDR19 gene. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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<div>
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|
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|
<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 SENIOR-LOKEN SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
WDR19, ASP493HIS
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|
<br />
|
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|
|
SNP: rs587777349,
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|
|
|
|
|
gnomAD: rs587777349,
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|
ClinVar: RCV000115011, RCV001281114, RCV001753491, RCV001854543
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the asp493-to-his (D493H) mutation in the WDR19 gene that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; 616307) by Halbritter et al. (2013), see 608151.0006. </p><p>In a patient with retinal dystrophy and nephronophthisis, Coussa et al. (2013) also identified compound heterozygosity for the c.641dupT mutation (608151.0006) and a c.1477G-C transversion (c.1477G-C, NM_025132.3), resulting in the D493H mutation, in the WDR19 gene. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 NEPHRONOPHTHISIS 13</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
WDR19, GLN228TER
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|
<br />
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|
|
SNP: rs587777350,
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|
ClinVar: RCV000115012
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Egyptian patient with nephronophthisis-13 (NPHP13; 614377), Halbritter et al. (2013) identified compound heterozygous mutations in the WDR19 gene: a c.682C-T transition, resulting in a gln228-to-ter (Q228X) substitution, and a c.3703G-A transition, resulting in a glu1235-to-lys (E1235K; 608151.0009) substitution. The patient developed end-stage renal disease at age 5 years, and also had dilatation of the intrahepatic bile ducts. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 NEPHRONOPHTHISIS 13</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
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|
WDR19, GLU1235LYS
|
|
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|
|
<br />
|
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|
|
SNP: rs587777351,
|
|
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|
|
|
gnomAD: rs587777351,
|
|
|
|
|
|
ClinVar: RCV000115013, RCV000788500, RCV001281118, RCV001854544, RCV002477273
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the glu1235-to-lys (E1235K) mutation in the WDR19 gene that was found in compound heterozygous state in a patient with nephronophthisis-13 (NPHP13; 614377) by Halbritter et al. (2013), see 608151.0008. </p><p>For discussion of the E1235K mutation in the WDR19 gene that was found in compound heterozygous state in 3 Korean sibs with NPHP13 by Lee et al. (2015), see 608151.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SENIOR-LOKEN SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
NEPHRONOPHTHISIS 13, INCLUDED<br />
|
|
CRANIOECTODERMAL DYSPLASIA 4, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, ARG1178GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs79436363,
|
|
|
|
|
|
gnomAD: rs79436363,
|
|
|
|
|
|
ClinVar: RCV000115014, RCV000433622, RCV000653250, RCV000754960, RCV000850617, RCV001262101, RCV003224149, RCV003224150, RCV005031600
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from Oman with Senior-Loken syndrome-8 (SLSN8; 616307), Halbritter et al. (2013) identified a homozygous c.3533G-A transition in the WDR19 gene, resulting in an arg1178-to-gln (R1178Q) substitution. The patients developed end-stage renal disease in infancy, and also had polydactyly, dilatation of the intrahepatic bile ducts, and retinal dystrophy. Another patient with early-onset end-stage renal disease, cortical blindness, and hepatic and pancreatic cysts was compound heterozygous for R1178Q and a c.3565+1G-A transition in the WDR19 gene (608151.0011), resulting in a splice site mutation. </p><p>In 3 Korean sibs (I-1, I-2, and I-3) and an unrelated 1.5-year-old Korean boy (III-1) with nephronophthisis (NPHP13; 614377), Lee et al. (2015) identified compound heterozygosity for the R1178Q mutation and another missense mutation in the WDR19 gene. In the 3 sibs, the second mutation was the previously reported E1235K variant (608151.0009), and in the unrelated boy, it was a c.1853T-C transition, resulting in a leu618-to-pro (L618P; 608151.0015) substitution. The authors also identified WDR19 mutations in 2 Korean patients with NPHP and retinitis pigmentosa (Senior-Loken syndrome): a 15-year-old boy (II-1) was compound heterozygous for the R1178Q variant and a c.1483G-T transversion, resulting in a gly495-to-cys (G495C; 608151.0014) substitution; and a 6-year-old girl was homozygous for the R1178Q variant. Sanger sequencing confirmed the mutations and their segregation with disease in each family, and none was detected in 100 Korean controls or in an in-house exome database of 80 Korean individuals. </p><p>In 2 unrelated Japanese girls with Sensenbrenner syndrome (CED4; 614378), Yoshikawa et al. (2017) identified compound heterozygosity for mutation in the WDR19 gene. Both carried the recurrent R1178Q variant in exon 32 on one allele. Patient 1 also had a 1-bp deletion (c.953delA; 608151.0016) in exon 10, causing a frameshift predicted to result in a premature termination codon (Asn319IlefsTer16), whereas patient 2 had a splice site mutation (c.2645+1G-T; 608151.0017) in intron 23 on the second allele. Sanger sequencing confirmed the mutations and their segregation with disease in both families. The deletion and splicing mutations were not found in the dbSNP or HGVD databases. (Yoshikawa et al. (2017) referred to the splice site mutation as c.2654+1G-T in the text of the report.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SENIOR-LOKEN SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, 3565+1G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777352,
|
|
|
|
|
|
gnomAD: rs587777352,
|
|
|
|
|
|
ClinVar: RCV000115015, RCV000516054, RCV000681868, RCV001212609, RCV001797626, RCV002277157
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the WDR19 gene (c.3565+1G-A) that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; 616307) by Halbritter et al. (2013), see 608151.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 SENIOR-LOKEN SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, VAL68ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786204852,
|
|
|
|
|
|
gnomAD: rs786204852,
|
|
|
|
|
|
ClinVar: RCV000169776
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with retinal dystrophy and nephronophthisis (SLSN8; 616307), Coussa et al. (2013) identified compound heterozygosity for a c.203T-A transversion (c.203T-A, NM_025132.3) in the WDR19 gene, resulting in a val68-to-asp (V68D) substitution, and a splice site mutation (c.407-2A-G; 608151.0013). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SENIOR-LOKEN SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, 407-2A-G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs374400438,
|
|
|
|
|
|
gnomAD: rs374400438,
|
|
|
|
|
|
ClinVar: RCV000169777
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the WDR19 gene (c.407-2A-G, NM_025132.3) that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; 616307) by Coussa et al. (2013), see 608151.0012. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 SENIOR-LOKEN SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, GLY495CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1215108056,
|
|
|
|
|
|
gnomAD: rs1215108056,
|
|
|
|
|
|
ClinVar: RCV002248393
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1483G-T transversion in the WDR19 gene, resulting in a gly495-to-cys (G495C) substitution, that was found in compound heterozygous state in a 15-year-old Korean boy (II-1) with Senior-Loken syndrome (SLSN8; 616307) by Lee et al. (2015), see 608151.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 NEPHRONOPHTHISIS 13</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, LEU618PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2109358597,
|
|
|
|
|
|
|
|
ClinVar: RCV002248394
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1853T-C transition in the WDR19 gene, resulting in a leu618-to-pro (L618P) substitution, that was found in compound heterozygous state in a 1.5-year-old Korean boy (III-1) with nephronophthisis (NPHP13; 614377) by Lee et al. (2015), see 608151.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 CRANIOECTODERMAL DYSPLASIA 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, 1-BP DEL, 953A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2109322891,
|
|
|
|
|
|
|
|
ClinVar: RCV002248395
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.953delA, NM_025132.3) in exon 10 the WDR19 gene, causing a frameshift predicted to result in a premature termination codon (Asn319IlefsTer16), that was found in compound heterozygous state in a Japanese girl (patient 1) with Sensenbrenner syndrome (CED4; 614378) by Yoshikawa et al. (2017), see 608151.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 CRANIOECTODERMAL DYSPLASIA 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, IVS23, G-T, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1237821935,
|
|
|
|
|
|
gnomAD: rs1237821935,
|
|
|
|
|
|
ClinVar: RCV002248396
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation (c.2645+1G-T, NM_025132.3) in intron 23 of the WDR19 gene, that was found in compound heterozygous state in a Japanese girl (patient 2) with Sensenbrenner syndrome (CED4; 614378) by Yoshikawa et al. (2017), see 608151.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 SHORT-RIB THORACIC DYSPLASIA 5 WITHOUT POLYDACTYLY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
WDR19, HIS481ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1729264976,
|
|
|
|
|
|
|
|
ClinVar: RCV001281113, RCV001290087, RCV002251760
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
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<p>In a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; 614376), Montolio-Marzo et al. (2020) identified compound heterozygosity for missense mutations in the WDR19 gene: a c.1442A-G transition (c.1442A-G, NM_025132) in exon 14, resulting in a his481-to-arg (H481R) substitution, and a c.2741C-A transversion in exon 25 of the WDR19 gene, resulting in an ala914-to-asp (A914D; 608151.0019) substitution. Sanger sequencing confirmed the mutations and their segregation with disease in the family. Neither variant was found in the gnomAD database, but the A914D substitution was present at very low minor allele frequency (8.293 x 10(-6)) in the ExAC database. </p>
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<strong>.0019 SHORT-RIB THORACIC DYSPLASIA 5 WITHOUT POLYDACTYLY</strong>
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WDR19, ALA914ASP
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SNP: rs766616967,
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gnomAD: rs766616967,
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ClinVar: RCV001281116, RCV001290088, RCV002251761
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<p>For discussion of the c.2741C-A transversion (c.2741C-A, NM_025132) in exon 25 of the WDR19 gene, resulting in an ala914-to-asp (A914D) substitution, that was found in compound heterozygous state in a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; 614376) by Montolio-Marzo et al. (2020), see 608151.0018. </p>
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<strong>.0020 SPERMATOGENIC FAILURE 72 (1 patient)</strong>
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WDR19, LYS1271GLU
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SNP: rs2109521864,
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ClinVar: RCV002248399
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<p>In an infertile Han Chinese man with multiple morphologic abnormalities of the flagella (SPGF72; 619867), Ni et al. (2020) identified homozygosity for a c.3811A-G transition in exon 34 of the WDR19 gene, resulting in a lys1271-to-glu (K1271E) at a highly conserved residue within the DZR domain. Sanger sequencing confirmed that his unaffected first-cousin parents were heterozygous for the mutation, which not found in the 1000 Genomes Project, ESP6500, or gnomAD databases. Immunofluorescence analysis demonstrated that WDR19 was absent from patient sperm, and qPCR showed that the level of mRNA in patient sperm was significantly lower than that of a healthy control. In addition, immunostaining revealed mislocalization of IFT140 (614620) and IFT88 (600595) in patient sperm, as well as absence of SPAG6 (605730). The proband exhibited no ocular, skeletal, hepatic, or renal anomalies. Noting that the K1271E variant was the only WDR19 mutation reported to occur within the C-terminal DZR domain, the authors suggested that the variant might have only minimal effects on protein structure and function, and speculated that at least partial ciliary function was retained in the patient. </p>
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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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Ashe, A., Butterfield, N. C., Town, L., Courtney, A. D., Cooper, A. N., Ferguson, C., Barry, R., Olsson, F., Liem, K. F., Parton, R. G., Wainwright, B. J., Anderson, K. V., Whitelaw, E., Wicking, C.
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<strong>Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.</strong>
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Hum. Molec. Genet. 21: 1808-1823, 2012.
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[PubMed: 22228095]
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[Full Text: https://doi.org/10.1093/hmg/ddr613]
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</li>
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Bredrup, C., Saunier, S., Oud, M. M., Fiskerstrand, T., Hoischen, A., Brackman, D., Leh, S. M., Midtbo, M., Filhol, E., Bole-Feysot, C., Nitschke, P., Gilissen, C., and 16 others.
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<strong>Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.</strong>
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Am. J. Hum. Genet. 89: 634-643, 2011.
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[PubMed: 22019273]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.10.001]
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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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Coussa, R. G., Otto, E. A., Gee, H.-Y., Arthurs, P., Ren, H., Lopez, I., Keser, V., Fu, Q., Faingold, R., Khan, A., Schwartzentruber, J., Majewski, J., Hildebrandt, F., Koenekoop, R. K.
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<strong>WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.</strong>
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Clin. Genet. 84: 150-159, 2013.
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[PubMed: 23683095]
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[Full Text: https://doi.org/10.1111/cge.12196]
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de Vries, J., Yntema, J. L., van Die, C. E., Crama, N., Cornelissen, E. A. M., Hamel, B. C. J.
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<strong>Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.</strong>
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Europ. J. Pediat. 169: 77-88, 2010.
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[PubMed: 19430947]
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[Full Text: https://doi.org/10.1007/s00431-009-0991-3]
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Fehrenbach, H., Decker, C., Eisenberger, T., Frank, V., Hampel, T., Walden, U., Amann, K. U., Kruger-Stollfuss, I., Bolz, H. J., Haffner, K., Pohl, M., Bergmann, C.
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<strong>Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.</strong>
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Pediat. Nephrol. 29: 1451-1456, 2014.
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[PubMed: 24504730]
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[Full Text: https://doi.org/10.1007/s00467-014-2762-2]
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Halbritter, J., Porath, J. D., Diaz, K. A., Braun, D. A., Kohl, S., Chaki, M., Allen, S. J., Soliman, N. A., Hildebrandt, F., Otto, E. A., The GPN Study Group.
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<strong>Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.</strong>
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Hum. Genet. 132: 865-884, 2013.
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[PubMed: 23559409]
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[Full Text: https://doi.org/10.1007/s00439-013-1297-0]
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Hiltpold, M., Niu, G., Kadri, N. K., Crysnanto, D., Fang, Z.-H., Spengeler, M., Schmitz-Hsu, F., Fuerst, C., Schwarzenbacher, H., Seefried, F. R., Seehusen, F., Witschi, U., Schnieke, A., Fries, R., Bollwein, H., Flisikowski, K., Pausch, H.
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<strong>Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility.</strong>
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PLoS Genet. 16: e1008804, 2020.
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[PubMed: 32407316]
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[Full Text: https://doi.org/10.1371/journal.pgen.1008804]
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Ishida, Y., Kobayashi, T., Chiba, S., Katoh, Y., Nakayama, K.
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<strong>Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.</strong>
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Hum. Molec. Genet. 30: 213-225, 2021.
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[PubMed: 33517396]
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[Full Text: https://doi.org/10.1093/hmg/ddab034]
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Lee, J. M., Ahn, Y. H., Kang, H. G., Ha, I. I., Lee, K., Moon, K. C., Lee, J. H., Park, Y. S., Cho, Y. M., Bae, J. S., Kim, N. K., Park, W.-Y., Cheong, H. I.
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<strong>Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.</strong>
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Pediat. Nephrol. 30: 1451-1458, 2015.
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[PubMed: 25726036]
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[Full Text: https://doi.org/10.1007/s00467-015-3068-8]
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Lin, B., White, J. T., Utleg, A. G., Wang, S., Ferguson, C., True, L. D., Vessella, R., Hood, L., Nelson, P. S.
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<strong>Isolation and characterization of human and mouse WDR19, a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.</strong>
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Genomics 82: 331-342, 2003.
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[PubMed: 12906858]
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[Full Text: https://doi.org/10.1016/s0888-7543(03)00151-4]
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Montolio-Marzo, S., Catala-Mora, J., Madrid-Aris, A., Armstrong, J., Diaz-Carcajosa, J., Carreras, E.
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<strong>IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: a new association.</strong>
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Europ. J. Med. Genet. 63: 104073, 2020.
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[PubMed: 33002628]
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[Full Text: https://doi.org/10.1016/j.ejmg.2020.104073]
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Ni, X., Wang, J., Lv, M., Liu, C., Zhong, Y., Tian, S., Wu, H., Cheng, H., Gao, Y., Tan, Q., Chen, B., Li, Q., Song, B., Wei, Z., Zhou, P., He, X., Zhang, F., Cao, Y.
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<strong>A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.</strong>
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J. Assist. Reprod. Genet. 37: 1431-1439, 2020.
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[PubMed: 32323121]
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[Full Text: https://doi.org/10.1007/s10815-020-01770-1]
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Yoshikawa, T., Kamei, K., Nagata, H., Saida, K., Sato, M., Ogura, M., Ito, S., Miyazaki, O., Urushihara, M., Kondo, S., Sugawara, N., Ishizuka, K., Hamasaki, Y., Shishido, S., Morisada, N., Iijima, K., Nagata, M., Yoshioka, T., Ogata, K., Ishikura, K.
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<strong>Diversity of renal phenotypes in patients with WDR19 mutations: two case reports.</strong>
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Nephrology 22: 566-571, 2017.
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[PubMed: 28621010]
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[Full Text: https://doi.org/10.1111/nep.12996]
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Alan F. Scott - updated : 04/27/2023<br>Marla J. F. O'Neill - updated : 05/02/2022<br>Marla J. F. O'Neill - updated : 4/10/2015<br>Cassandra L. Kniffin - updated : 3/26/2014<br>Marla J. F. O'Neill - updated : 12/6/2011
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mgross : 04/27/2023<br>mgross : 04/27/2023<br>alopez : 05/02/2022<br>carol : 04/25/2017<br>carol : 10/20/2016<br>carol : 04/10/2015<br>mcolton : 4/10/2015<br>carol : 4/30/2014<br>mcolton : 4/22/2014<br>ckniffin : 3/26/2014<br>mcolton : 2/11/2014<br>carol : 2/10/2014<br>carol : 1/10/2014<br>carol : 12/6/2011<br>terry : 12/6/2011<br>mgross : 10/6/2003
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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