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Entry
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- *604831 - EVC CILIARY COMPLEX SUBUNIT 1; EVC
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- OMIM
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<p>
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<span class="h4">*604831</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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604831">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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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=ENSG00000072840;t=ENST00000264956" 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=2121" 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=604831" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000072840;t=ENST00000264956" 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_001306090,NM_001306092,NM_153717,XM_011513419,XM_017007883,XM_047449769,XM_047449770,XM_047449771,XM_047449772,XM_047449773,XM_047449774,XM_047449775,XM_047449776,XM_047449777,XM_047449778,XM_047449779,XM_047449780,XM_047449781,XM_047449782,XM_047449783,XM_047449784,XM_047449785,XM_047449786,XM_047449787,XM_047449788,XM_047449789,XM_047449790,XM_047449791,XM_047449792,XM_047449793,XM_047449794,XM_047449795,XM_047449796,XM_047449797,XM_047449798,XM_047449799,XM_047449800,XM_047449801,XM_047449802,XM_047449803,XM_047449804,XM_047449805,XM_047449806,XM_047449807,XM_047449808,XM_047449809,XM_047449810" 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_153717" 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=604831" 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 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=05319&isoform_id=05319_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/EVC" 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/7141125,7141127,7271903,12229783,24497531,55250370,63992499,63996060,767929027,807045860,807045923,1034638901,2217349369,2217349371,2217349373,2217349375,2217349377,2217349379,2217349381,2217349383,2217349385,2217349387,2217349389,2217349391,2217349393,2217349395,2217349397,2217349399,2217349401,2217349403,2217349405,2217349407,2217349409,2217349411,2217349413,2217349415,2217349417,2217349419,2217349421,2217349423,2217349425,2217349427,2217349429,2217349431,2217349433,2217349435,2217349437,2217349439,2217349441,2217349443,2217349445,2217349447,2217349449,2217349451,2462595491,2462595493,2462595495,2462595497,2462595499,2462595501,2462595503,2462595505,2462595507,2462595509,2462595511,2462595513,2462595515,2462595517,2462595519,2462595521,2462595523,2462595525,2462595527,2462595529,2462595531,2462595533,2462595535,2462595537,2462595539,2462595541,2462595543,2462595545,2462595547,2462595549,2462595551,2462595553,2462595555,2462595557,2462595559,2462595561,2462595563,2462595565,2462595567,2462595569,2462595571,2462595573,2462595575,2462595577" 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/P57679" 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=2121" 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=ENSG00000072840;t=ENST00000264956" 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=EVC" 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=EVC" 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+2121" 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/EVC" 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:2121" 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/2121" 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=ENST00000264956.11&hgg_start=5711201&hgg_end=5829057&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/evc" 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=604831[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=604831[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000072840" 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=EVC" 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=EVC" 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=EVC" 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=EVC&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/PA27911" 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:3497" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1890596" 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/EVC#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:1890596" 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/2121/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=2121" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<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>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2121" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=EVC&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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|
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<span>
|
|
<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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|
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<a id="title" class="mim-anchor"></a>
|
|
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<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
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|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 277807007, 62501005<br />
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<strong>ICD10CM:</strong> Q77.6<br />
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<strong>ICD9CM:</strong> 756.55<br />
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">ICD+</a>
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</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
604831
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
EVC CILIARY COMPLEX SUBUNIT 1; EVC
|
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|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EVC1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EVC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EVC</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</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/4/66?start=-3&limit=10&highlight=66">4p16.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:5711201-5829057&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'})">4:5,711,201-5,829,057</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</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=193530,225500" 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="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/66?start=-3&limit=10&highlight=66">
|
|
4p16.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Weyers acrofacial dysostosis
|
|
|
|
<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/193530"> 193530 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ellis-van Creveld syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/225500"> 225500 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>EVC and EVC2 (<a href="/entry/607261">607261</a>) are single-pass type I transmembrane proteins. They constitutively associate with each other in a ring-like pattern near the ciliary transition zone, a protein barrier between the ciliary and plasma membranes. EVC and EVC2 function by transducing extracellular signals to the nucleus via the hedgehog (see SHH, <a href="/entry/600725">600725</a>) signaling pathway (<a href="#4" class="mim-tip-reference" title="Dorn, K. V., Hughes, C. E., Rohatgi, R. <strong>A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.</strong> Dev. Cell 23: 823-835, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981989[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.devcel.2012.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22981989">Dorn et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981989" 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 positional cloning, sequence analysis, and RACE and RT-PCR analysis of human brain cDNA and human fetal kidney RNA, <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> cloned EVC, which encodes a 992-amino acid protein with a transmembrane domain, 3 nuclear localization signals, and a leucine zipper motif. Northern blot analysis of human adult and fetal tissues detected a 7.0-kb transcript in fetal kidney and lung. In situ hybridization detected low levels of EVC expression in developing bone, heart, kidney, and lung at Carnegie states 19 and 21. In bone, EVC was expressed in the developing vertebral bodies, ribs, and both upper and lower limbs. Expression was higher in the distal limb compared with the proximal limb, an observation that may be related to the limb segments that are most severely affected with the mutant gene. <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> also detected EVC expression in the branching epithelium and surrounding mesenchyme of the lung, metanephros, and atrial and ventricular myocardium, including both atrial and interventricular septa. <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> cloned mouse Evc, which shares 66.8% amino acid identity with human EVC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> determined that the EVC gene contains 24 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> mapped the EVC gene to chromosome 4p16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found that the EVC and EVC2 (<a href="/entry/607261">607261</a>) genes are arranged in a head-to-head configuration with transcription start sites separated by 2,624 bp in the human and 1,647 bp in mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" 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="#15" class="mim-tip-reference" title="Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W. <strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong> Hum. Molec. Genet. 18: 1813-1824, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251731</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19251731[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/ddp098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19251731">Sund et al. (2009)</a> carried out in situ hybridization and immunofluorescence studies in mouse tissues and whole embryos and found colocalization of Evc and Evc2 mRNA and protein. In developing mouse heart, expression was strongest in the secondary heart field, including both the outflow tract and the dorsal mesenchymal protrusion, but was also found in mesenchymal structures of the atrial septum and the atrioventricular cushions. There was no evidence of direct transcriptional interregulation between the 2 genes. Due to the locus heterogeneity of human mutations predicted to result in a loss of protein function, a bidirectional genomic organization and overlapping expression patterns, <a href="#15" class="mim-tip-reference" title="Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W. <strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong> Hum. Molec. Genet. 18: 1813-1824, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251731</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19251731[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/ddp098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19251731">Sund et al. (2009)</a> speculated that the EVC and EVC2 proteins may function coordinately in cardiac development and that loss of this coordinate function may result in the characteristics of Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19251731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L. <strong>The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.</strong> Hum. Molec. Genet. 22: 124-139, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23026747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23026747</a>] [<a href="https://doi.org/10.1093/hmg/dds409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23026747">Caparros-Martin et al. (2013)</a> found that mouse Evc and Evc2 coimmunoprecipitated with Smo (SMOH; <a href="/entry/601500">601500</a>) following hedgehog (Hh) activation in cotransfected HEK293 cells. While Smo localized along the entire length of cilia, the 3 proteins colocalized at the base of cilia following Hh activation. Complexes containing C-terminally truncated Evc2 also interacted with Smo, but they were abnormally distributed along the entire length of the cilium in the presence or absence of Hh activation and inhibited Hh signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23026747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mouse NIH 3T3 cells <a href="#9" class="mim-tip-reference" title="Pusapati, G. V., Hughes, C. E., Dorn, K. V., Zhang, D., Sugianto, P., Aravind, L., Rohatgi, R. <strong>EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.</strong> Dev. Cell 28: 483-496, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24582806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24582806</a>] [<a href="https://doi.org/10.1016/j.devcel.2014.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24582806">Pusapati et al. (2014)</a> found that Iqce (<a href="/entry/617632">617632</a>) coimmunoprecipitated with Efcab7 (<a href="/entry/617631">617631</a>), Evc, and Evc2. The tetramer was made up of Iqce-Efcab7 and Evc-Evc2 subcomplexes, and the subcomplexes were linked via an Efcab7-Evc2 bridge. In the absence of Iqce and Efcab7, Evc and Evc2 mislocalized from the base of cilia, dispersed throughout the ciliary membrane, and failed to propagate a Hedgehog signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24582806" 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="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> identified a homozygous splice-donor change (<a href="#0001">604831.0001</a>) in an Amish pedigree with Ellis-van Creveld syndrome, and 6 truncating mutations and a single amino acid deletion in homozygous or compound heterozygous state in 7 additional pedigrees with EVC (see, e.g., <a href="#0002">604831.0002</a>-<a href="#0004">604831.0004</a>). The heterozygous carriers of these mutations did not manifest features of EVC. <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> identified a heterozygous missense mutation (S307P; <a href="#0006">604831.0006</a>) in a man with Weyers acrofacial dysostosis (WAD; <a href="/entry/193530">193530</a>), which the authors called Weyers acrodental dysostosis; his daughter had EVC and was compound heterozygous for S307P and a 1-bp deletion (<a href="#0007">604831.0007</a>)i in the EVC gene inherited from her unaffected mother. <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> suggested that EVC and WAD are allelic disorders. <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> also found a heterozygous missense mutation (R443Q; <a href="#0005">604831.0005</a>) in a father and his daughter, who both had the heart defect characteristic of EVC and polydactyly, but not short stature; however, <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Goodship, J. A. <strong>Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligands.</strong> Am. J. Med. Genet. 151C: 341-351, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876929</a>] [<a href="https://doi.org/10.1002/ajmg.c.30226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19876929">Ruiz-Perez and Goodship (2009)</a> reported that the R443Q variant is a rare polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19876929+10700184" 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="#16" class="mim-tip-reference" title="Takamine, Y., Krejci, P., Mekikian, P. B., Wilcox, W. R. <strong>Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter)</strong> Am. J. Med. Genet. 130A: 96-97, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368503</a>] [<a href="https://doi.org/10.1002/ajmg.a.20579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368503">Takamine et al. (2004)</a> purported that mutations in the EVC1 gene are not a common finding in Ellis-van Creveld syndrome. They sequenced all 21 coding exons and flanking intron sequences of the EVC1 gene in 10 unrelated cases of EVC and 3 sibs with EVC and found no mutations interpreted as pathologic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368503" 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="Ruiz-Perez, V. L., Blair, H. J., Rodriguez-Andres, M. E., Blanco, M. J., Wilson, A., Liu, Y.-N., Miles, C., Peters, H., Goodship, J. A. <strong>Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.</strong> Development 134: 2903-2912, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660199</a>] [<a href="https://doi.org/10.1242/dev.007542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17660199">Ruiz-Perez et al. (2007)</a> found that Evc -/- mice were born at the expected mendelian ratio; however, about half of the Evc -/- offspring had died by 2 days after birth. No overt cardiovascular malformations were evident. Surviving Evc -/- mice lived to adulthood, but only when provided with soft, well-hydrated food. They did not breed. Evc -/- mice developed an EVC-like syndrome, including short ribs and limbs and dental abnormalities, but they did not develop polydactyly. Cilia appeared normal in Evc -/- mice, as did Ihh (<a href="/entry/600726">600726</a>) expression and signaling, Smo-dependent Gli3 (<a href="/entry/165240">165240</a>) processing, and chondrocyte differentiation. However, expression of Ihh downstream genes Ptch1 (<a href="/entry/601309">601309</a>) and Gli1 (<a href="/entry/165220">165220</a>) was markedly reduced in perichondrium and proliferating chondrocytes, concomitant with contraction of the Fgfr3 (<a href="/entry/134934">134934</a>) expression domain. Chondrocytes appeared to undergo premature hypertrophic differentiation due to decreased Pthrp (<a href="/entry/168470">168470</a>) expression secondary to defective Hh signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17660199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Nakatomi, M., Hovorakova, M., Gritli-Linde, A., Blair, H. J., MacArthur, K., Peterka, M., Lesot, H., Peterkova, R., Ruiz-Perez, V. L., Goodship, J. A., Peters, H. <strong>Evc regulates a symmetrical response to Shh signaling in molar development.</strong> J. Dent. Res. 92: 222-228, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23315474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23315474</a>] [<a href="https://doi.org/10.1177/0022034512471826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23315474">Nakatomi et al. (2013)</a> found that absence of Evc in mice caused various hypo- and hyperplasia defects during molar tooth development. During first molar development in Evc -/- embryos, response to Shh signaling was progressively lost, with the response consistently lost in a buccal-to-lingual direction. Evc -/- embryos also showed displaced activity of the Wnt (see <a href="/entry/164820">164820</a>) pathway. <a href="#8" class="mim-tip-reference" title="Nakatomi, M., Hovorakova, M., Gritli-Linde, A., Blair, H. J., MacArthur, K., Peterka, M., Lesot, H., Peterkova, R., Ruiz-Perez, V. L., Goodship, J. A., Peters, H. <strong>Evc regulates a symmetrical response to Shh signaling in molar development.</strong> J. Dent. Res. 92: 222-228, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23315474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23315474</a>] [<a href="https://doi.org/10.1177/0022034512471826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23315474">Nakatomi et al. (2013)</a> concluded that disrupted activity of the SHH pathway is the primary cause for the variable dental anomalies seen in patients with EVC syndrome and Weyers acrofacial dysostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23315474" 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>Consistent with Evc and Evc2 functioning as a complex, <a href="#1" class="mim-tip-reference" title="Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L. <strong>The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.</strong> Hum. Molec. Genet. 22: 124-139, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23026747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23026747</a>] [<a href="https://doi.org/10.1093/hmg/dds409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23026747">Caparros-Martin et al. (2013)</a> found that the skeletal phenotypes of Evc -/- or Evc2 -/- single mutants and Evc -/- Evc2 -/- double mutants were virtually indistinguishable. Smo translocation to the cilium was normal in Evc2 -/- chondrocytes following Hh activation; however, Gli3 recruitment to cilia tips was reduced, and Sufu (<a href="/entry/607035">607035</a>)/Gli3 dissociation was impaired. Knockdown of Evc via short hairpin RNA in Sufu -/- mouse embryonic fibroblasts reduced mRNA and protein content of Gli1 and Gli2 (<a href="/entry/165230">165230</a>), suggesting that the Evc/Evc2 complex also promotes Hh signaling downstream of Sufu. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23026747" 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> rs794726665 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794726665;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/rs794726665?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=rs794726665" 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=rs794726665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In the Old Order Amish community of Lancaster County, Pennsylvania, in which <a href="#6" class="mim-tip-reference" title="McKusick, V. A., Egeland, J. A., Eldridge, R., Krusen, D. E. <strong>Dwarfism in the Amish. I. The Ellis-van Creveld syndrome.</strong> Bull. Johns Hopkins Hosp. 115: 306-336, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14217223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14217223</a>]" pmid="14217223">McKusick et al. (1964)</a> identified 50 cases of Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>), <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> identified a G-to-T substitution in intron 13 at position +5. All affected members in 9 branches of the family studied were also homozygous for an arg760-to-gln (R760Q) missense mutation, and both parents of affected individuals and other presumed heterozygotes who carried the splice site mutation were also heterozygous for the R760Q mutation. The R760Q change was presumed to represent a rare polymorphism because it was found in 1 British control and in 1 CEPH control out of 97 normal controls (194 chromosomes) tested. As the EVC gene is not transcribed in lymphocytes, <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> could not demonstrate that the intronic change led to alternate splicing. However, a change at this position has been reported in association with disease in a number of genes, and alternative splicing has been demonstrated (<a href="#5" class="mim-tip-reference" title="Krawczak, M., Cooper, D. N. <strong>The human gene mutation database.</strong> Trends Genet. 13: 121-122, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066272</a>] [<a href="https://doi.org/10.1016/s0168-9525(97)01068-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066272">Krawczak and Cooper, 1997</a>). <a href="#7" class="mim-tip-reference" title="McKusick, V. A. <strong>Ellis-van Creveld syndrome and the Amish.</strong> Nature Genet. 24: 203-204, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700162</a>] [<a href="https://doi.org/10.1038/73389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700162">McKusick (2000)</a> provided perspective on the classic study of dwarfism, including Ellis-van Creveld syndrome, in the Lancaster County Amish. He pointed out that the closely linked presumed polymorphism, R760Q, might be useful in connection with genetic counseling in this group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14217223+10700162+9066272+10700184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC, GLN879TER
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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> rs121908424 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908424;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/rs121908424?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=rs121908424" 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=rs121908424" 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=RCV000005667 OR RCV001045109" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005667, RCV001045109" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005667...</a>
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<p>In a patient with Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>), <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> found homozygosity for a gln879-to-ter (Q879X) mutation in exon 18 of the EVC gene coding sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC, ARG340TER
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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> rs121908425 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908425;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/rs121908425?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=rs121908425" 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=rs121908425" 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=RCV000005668 OR RCV000255270 OR RCV000516113 OR RCV000807465" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005668, RCV000255270, RCV000516113, RCV000807465" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005668...</a>
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<span class="mim-text-font">
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<p>In a patient with Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>), <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> found compound heterozygosity for 2 truncating mutations in the EVC gene: a 1018C-T transition resulting in an arg340-to-ter (R340X) substitution, and a 1-bp deletion (734delT; <a href="#0004">604831.0004</a>). The parents were not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 ELLIS-VAN CREVELD SYNDROME</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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EVC, 1-BP DEL, 734T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776619 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776619;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=rs587776619" 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=rs587776619" 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=RCV000005669" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005669" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005669</a>
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</span>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion in the EVC gene (734delT) that was found in compound heterozygous state in a patient with Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>) by <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a>, see <a href="#0003">604831.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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EVC, ARG443GLN (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35953626;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs35953626</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs35953626 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35953626;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/rs35953626?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=rs35953626" 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=rs35953626" 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=RCV000005670 OR RCV000248324 OR RCV000527342 OR RCV000987404 OR RCV001573446" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005670, RCV000248324, RCV000527342, RCV000987404, RCV001573446" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005670...</a>
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<span class="mim-text-font">
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<p>This variant, formerly titled ELLIS-VAN CREVELD SYNDROME, has been reclassified based on the report by <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Goodship, J. A. <strong>Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligands.</strong> Am. J. Med. Genet. 151C: 341-351, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876929</a>] [<a href="https://doi.org/10.1002/ajmg.c.30226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19876929">Ruiz-Perez and Goodship (2009)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19876929" 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="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> found a heterozygous 1328G-A transition in exon 10 of the EVC gene, resulting in an arg443-to-gln (R443Q) substitution, in a father and daughter with Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>). Both patients had postaxial polydactyly of hands and feet, partial atrioventricular canal with common atrium, and agenesis of the upper lateral incisors bilaterally with enamel abnormalities. They were not considered to be of short stature (<a href="#3" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B. <strong>Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.</strong> Hum. Genet. 96: 251-253, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635486</a>] [<a href="https://doi.org/10.1007/BF00207395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635486">Digilio et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7635486+10700184" 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="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Goodship, J. A. <strong>Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligands.</strong> Am. J. Med. Genet. 151C: 341-351, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876929</a>] [<a href="https://doi.org/10.1002/ajmg.c.30226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19876929">Ruiz-Perez and Goodship (2009)</a> noted that the R443Q variant (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs35953626;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs35953626</a>) has been reported to be a rare polymorphism that is more common in African populations and thus does not account for the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19876929" 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="0006" class="mim-anchor"></a>
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<h4>
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<strong>.0006 ELLIS-VAN CREVELD SYNDROME</strong>
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</h4>
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<span class="mim-text-font">
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WEYERS ACRODENTAL DYSOSTOSIS, INCLUDED (1 patient)
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EVC, SER307PRO
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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> rs121908426 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908426;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/rs121908426?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=rs121908426" 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=rs121908426" 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=RCV000005672 OR RCV001383029" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005672, RCV001383029" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005672...</a>
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<p>In a child with classic Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>) whose father had short stature, dysplastic nails, and widely spaced conical-shaped teeth without polydactyly (WAD; <a href="/entry/193530">193530</a>), previously reported by <a href="#14" class="mim-tip-reference" title="Spranger, S., Tariverdian, G. <strong>Symptomatic heterozygosity in the Ellis-van-Creveld syndrome?</strong> Clin. Genet. 47: 217-220, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628126</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03963.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628126">Spranger and Tariverdian (1995)</a>, <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> found compound heterozygosity for mutations in the EVC gene: a 919T-C transition in exon 7 resulting in a ser307-to-pro (S307P) substitution, which was inherited from the father, and a 1-bp deletion in exon 17, 2456delG (<a href="#0007">604831.0007</a>), which was inherited from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10700184+7628126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. <strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong> Europ. J. Med. Genet. 56: 80-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>] [<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23220543">D'Asdia et al. (2013)</a> reported a patient (patient 6) with classic EVC who had the S307P mutation and another mutation in the EVC gene; his father was heterozygous for S307P and was clinically unaffected. The authors stated that although S307P is a recurrent mutation in EVC, no other mutation carrier besides the father reported by <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> had been reported to be affected. <a href="#2" class="mim-tip-reference" title="D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. <strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong> Europ. J. Med. Genet. 56: 80-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>] [<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23220543">D'Asdia et al. (2013)</a> suggested that the clinical outcome of heterozygotes may be influenced by the genetic background of each individual carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10700184+23220543" 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">rs794726666 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794726666;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=rs794726666" 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=rs794726666" 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=RCV000005673 OR RCV003764530" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005673, RCV003764530" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005673...</a>
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<p>For discussion of the 1-bp deletion in the EVC gene (2456delG) that was found in compound heterozygous state in a patient with Ellis-van Creveld syndrome (EVC; <a href="/entry/225500">225500</a>) by <a href="#12" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a>, see <a href="#0006">604831.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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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D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A.
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<strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong>
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Europ. J. Med. Genet. 56: 80-87, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23315474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23315474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23315474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/0022034512471826" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Pusapati2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pusapati, G. V., Hughes, C. E., Dorn, K. V., Zhang, D., Sugianto, P., Aravind, L., Rohatgi, R.
|
|
<strong>EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.</strong>
|
|
Dev. Cell 28: 483-496, 2014.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24582806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24582806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24582806" 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.devcel.2014.01.021" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Ruiz-Perez2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Blair, H. J., Rodriguez-Andres, M. E., Blanco, M. J., Wilson, A., Liu, Y.-N., Miles, C., Peters, H., Goodship, J. A.
|
|
<strong>Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.</strong>
|
|
Development 134: 2903-2912, 2007.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17660199" 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/10.1242/dev.007542" 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="11" class="mim-anchor"></a>
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<a id="Ruiz-Perez2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Goodship, J. A.
|
|
<strong>Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligands.</strong>
|
|
Am. J. Med. Genet. 151C: 341-351, 2009.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19876929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19876929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19876929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.c.30226" 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="12" class="mim-anchor"></a>
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<a id="Ruiz-Perez2000" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J.
|
|
<strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong>
|
|
Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/73508" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Ruiz-Perez2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A.
|
|
<strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong>
|
|
Am. J. Hum. Genet. 72: 728-732, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[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=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/368063" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
|
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<a id="Spranger1995" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Spranger, S., Tariverdian, G.
|
|
<strong>Symptomatic heterozygosity in the Ellis-van-Creveld syndrome?</strong>
|
|
Clin. Genet. 47: 217-220, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03963.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Sund2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W.
|
|
<strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong>
|
|
Hum. Molec. Genet. 18: 1813-1824, 2009.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251731</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19251731[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=19251731" 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/ddp098" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
|
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<a id="Takamine2004" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Takamine, Y., Krejci, P., Mekikian, P. B., Wilcox, W. R.
|
|
<strong>Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter)</strong>
|
|
Am. J. Med. Genet. 130A: 96-97, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20579" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<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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Patricia A. Hartz - updated : 08/16/2017
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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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|
George E. Tiller - updated : 2/22/2010<br>Victor A. McKusick - updated : 12/1/2004
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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">
|
|
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">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh : 4/13/2000
|
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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>
|
|
<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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|
carol : 10/31/2019
|
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</span>
|
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</div>
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</div>
|
|
<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">
|
|
carol : 08/16/2017<br>carol : 04/10/2017<br>alopez : 06/17/2015<br>mcolton : 6/12/2015<br>mgross : 2/3/2014<br>mcolton : 1/31/2014<br>carol : 1/31/2014<br>carol : 1/30/2014<br>wwang : 2/24/2010<br>terry : 2/22/2010<br>tkritzer : 12/2/2004<br>terry : 12/1/2004<br>terry : 3/24/2004<br>carol : 8/17/2000<br>alopez : 5/9/2000<br>alopez : 4/14/2000<br>alopez : 4/14/2000
|
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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>
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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>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 604831
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
EVC CILIARY COMPLEX SUBUNIT 1; EVC
|
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|
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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">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EVC1
|
|
</span>
|
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</h4>
|
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</div>
|
|
</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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: EVC</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 277807007, 62501005;
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q77.6;
|
|
|
|
|
|
<strong>ICD9CM:</strong> 756.55;
|
|
|
|
|
|
|
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|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 4p16.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:5,711,201-5,829,057 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
4p16.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Weyers acrofacial dysostosis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
193530
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ellis-van Creveld syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
225500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>EVC and EVC2 (607261) are single-pass type I transmembrane proteins. They constitutively associate with each other in a ring-like pattern near the ciliary transition zone, a protein barrier between the ciliary and plasma membranes. EVC and EVC2 function by transducing extracellular signals to the nucleus via the hedgehog (see SHH, 600725) signaling pathway (Dorn et al., 2012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By positional cloning, sequence analysis, and RACE and RT-PCR analysis of human brain cDNA and human fetal kidney RNA, Ruiz-Perez et al. (2000) cloned EVC, which encodes a 992-amino acid protein with a transmembrane domain, 3 nuclear localization signals, and a leucine zipper motif. Northern blot analysis of human adult and fetal tissues detected a 7.0-kb transcript in fetal kidney and lung. In situ hybridization detected low levels of EVC expression in developing bone, heart, kidney, and lung at Carnegie states 19 and 21. In bone, EVC was expressed in the developing vertebral bodies, ribs, and both upper and lower limbs. Expression was higher in the distal limb compared with the proximal limb, an observation that may be related to the limb segments that are most severely affected with the mutant gene. Ruiz-Perez et al. (2000) also detected EVC expression in the branching epithelium and surrounding mesenchyme of the lung, metanephros, and atrial and ventricular myocardium, including both atrial and interventricular septa. Ruiz-Perez et al. (2000) cloned mouse Evc, which shares 66.8% amino acid identity with human EVC. </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>Ruiz-Perez et al. (2000) determined that the EVC gene contains 24 exons. </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>Ruiz-Perez et al. (2000) mapped the EVC gene to chromosome 4p16. </p><p>Ruiz-Perez et al. (2003) found that the EVC and EVC2 (607261) genes are arranged in a head-to-head configuration with transcription start sites separated by 2,624 bp in the human and 1,647 bp in mouse. </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>Sund et al. (2009) carried out in situ hybridization and immunofluorescence studies in mouse tissues and whole embryos and found colocalization of Evc and Evc2 mRNA and protein. In developing mouse heart, expression was strongest in the secondary heart field, including both the outflow tract and the dorsal mesenchymal protrusion, but was also found in mesenchymal structures of the atrial septum and the atrioventricular cushions. There was no evidence of direct transcriptional interregulation between the 2 genes. Due to the locus heterogeneity of human mutations predicted to result in a loss of protein function, a bidirectional genomic organization and overlapping expression patterns, Sund et al. (2009) speculated that the EVC and EVC2 proteins may function coordinately in cardiac development and that loss of this coordinate function may result in the characteristics of Ellis-van Creveld syndrome (EVC; 225500). </p><p>Caparros-Martin et al. (2013) found that mouse Evc and Evc2 coimmunoprecipitated with Smo (SMOH; 601500) following hedgehog (Hh) activation in cotransfected HEK293 cells. While Smo localized along the entire length of cilia, the 3 proteins colocalized at the base of cilia following Hh activation. Complexes containing C-terminally truncated Evc2 also interacted with Smo, but they were abnormally distributed along the entire length of the cilium in the presence or absence of Hh activation and inhibited Hh signaling. </p><p>Using mouse NIH 3T3 cells Pusapati et al. (2014) found that Iqce (617632) coimmunoprecipitated with Efcab7 (617631), Evc, and Evc2. The tetramer was made up of Iqce-Efcab7 and Evc-Evc2 subcomplexes, and the subcomplexes were linked via an Efcab7-Evc2 bridge. In the absence of Iqce and Efcab7, Evc and Evc2 mislocalized from the base of cilia, dispersed throughout the ciliary membrane, and failed to propagate a Hedgehog signal. </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>Ruiz-Perez et al. (2000) identified a homozygous splice-donor change (604831.0001) in an Amish pedigree with Ellis-van Creveld syndrome, and 6 truncating mutations and a single amino acid deletion in homozygous or compound heterozygous state in 7 additional pedigrees with EVC (see, e.g., 604831.0002-604831.0004). The heterozygous carriers of these mutations did not manifest features of EVC. Ruiz-Perez et al. (2000) identified a heterozygous missense mutation (S307P; 604831.0006) in a man with Weyers acrofacial dysostosis (WAD; 193530), which the authors called Weyers acrodental dysostosis; his daughter had EVC and was compound heterozygous for S307P and a 1-bp deletion (604831.0007)i in the EVC gene inherited from her unaffected mother. Ruiz-Perez et al. (2000) suggested that EVC and WAD are allelic disorders. Ruiz-Perez et al. (2000) also found a heterozygous missense mutation (R443Q; 604831.0005) in a father and his daughter, who both had the heart defect characteristic of EVC and polydactyly, but not short stature; however, Ruiz-Perez and Goodship (2009) reported that the R443Q variant is a rare polymorphism. </p><p>Takamine et al. (2004) purported that mutations in the EVC1 gene are not a common finding in Ellis-van Creveld syndrome. They sequenced all 21 coding exons and flanking intron sequences of the EVC1 gene in 10 unrelated cases of EVC and 3 sibs with EVC and found no mutations interpreted as pathologic. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Ruiz-Perez et al. (2007) found that Evc -/- mice were born at the expected mendelian ratio; however, about half of the Evc -/- offspring had died by 2 days after birth. No overt cardiovascular malformations were evident. Surviving Evc -/- mice lived to adulthood, but only when provided with soft, well-hydrated food. They did not breed. Evc -/- mice developed an EVC-like syndrome, including short ribs and limbs and dental abnormalities, but they did not develop polydactyly. Cilia appeared normal in Evc -/- mice, as did Ihh (600726) expression and signaling, Smo-dependent Gli3 (165240) processing, and chondrocyte differentiation. However, expression of Ihh downstream genes Ptch1 (601309) and Gli1 (165220) was markedly reduced in perichondrium and proliferating chondrocytes, concomitant with contraction of the Fgfr3 (134934) expression domain. Chondrocytes appeared to undergo premature hypertrophic differentiation due to decreased Pthrp (168470) expression secondary to defective Hh signaling. </p><p>Nakatomi et al. (2013) found that absence of Evc in mice caused various hypo- and hyperplasia defects during molar tooth development. During first molar development in Evc -/- embryos, response to Shh signaling was progressively lost, with the response consistently lost in a buccal-to-lingual direction. Evc -/- embryos also showed displaced activity of the Wnt (see 164820) pathway. Nakatomi et al. (2013) concluded that disrupted activity of the SHH pathway is the primary cause for the variable dental anomalies seen in patients with EVC syndrome and Weyers acrofacial dysostosis. </p><p>Consistent with Evc and Evc2 functioning as a complex, Caparros-Martin et al. (2013) found that the skeletal phenotypes of Evc -/- or Evc2 -/- single mutants and Evc -/- Evc2 -/- double mutants were virtually indistinguishable. Smo translocation to the cilium was normal in Evc2 -/- chondrocytes following Hh activation; however, Gli3 recruitment to cilia tips was reduced, and Sufu (607035)/Gli3 dissociation was impaired. Knockdown of Evc via short hairpin RNA in Sufu -/- mouse embryonic fibroblasts reduced mRNA and protein content of Gli1 and Gli2 (165230), suggesting that the Evc/Evc2 complex also promotes Hh signaling downstream of Sufu. </p>
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|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ELLIS-VAN CREVELD SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EVC, IVS13DS, G-T, +5
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<br />
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|
|
SNP: rs794726665,
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gnomAD: rs794726665,
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|
|
ClinVar: RCV000005666, RCV000438781, RCV000516013, RCV001851677
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In the Old Order Amish community of Lancaster County, Pennsylvania, in which McKusick et al. (1964) identified 50 cases of Ellis-van Creveld syndrome (EVC; 225500), Ruiz-Perez et al. (2000) identified a G-to-T substitution in intron 13 at position +5. All affected members in 9 branches of the family studied were also homozygous for an arg760-to-gln (R760Q) missense mutation, and both parents of affected individuals and other presumed heterozygotes who carried the splice site mutation were also heterozygous for the R760Q mutation. The R760Q change was presumed to represent a rare polymorphism because it was found in 1 British control and in 1 CEPH control out of 97 normal controls (194 chromosomes) tested. As the EVC gene is not transcribed in lymphocytes, Ruiz-Perez et al. (2000) could not demonstrate that the intronic change led to alternate splicing. However, a change at this position has been reported in association with disease in a number of genes, and alternative splicing has been demonstrated (Krawczak and Cooper, 1997). McKusick (2000) provided perspective on the classic study of dwarfism, including Ellis-van Creveld syndrome, in the Lancaster County Amish. He pointed out that the closely linked presumed polymorphism, R760Q, might be useful in connection with genetic counseling in this group. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ELLIS-VAN CREVELD SYNDROME</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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EVC, GLN879TER
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<br />
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|
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SNP: rs121908424,
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gnomAD: rs121908424,
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|
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ClinVar: RCV000005667, RCV001045109
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|
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</span>
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|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Ellis-van Creveld syndrome (EVC; 225500), Ruiz-Perez et al. (2000) found homozygosity for a gln879-to-ter (Q879X) mutation in exon 18 of the EVC gene coding sequence. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
|
|
EVC, ARG340TER
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<br />
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|
|
SNP: rs121908425,
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gnomAD: rs121908425,
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|
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ClinVar: RCV000005668, RCV000255270, RCV000516113, RCV000807465
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Ellis-van Creveld syndrome (EVC; 225500), Ruiz-Perez et al. (2000) found compound heterozygosity for 2 truncating mutations in the EVC gene: a 1018C-T transition resulting in an arg340-to-ter (R340X) substitution, and a 1-bp deletion (734delT; 604831.0004). The parents were not available for study. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 ELLIS-VAN CREVELD SYNDROME</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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EVC, 1-BP DEL, 734T
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<br />
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SNP: rs587776619,
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ClinVar: RCV000005669
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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 deletion in the EVC gene (734delT) that was found in compound heterozygous state in a patient with Ellis-van Creveld syndrome (EVC; 225500) by Ruiz-Perez et al. (2000), see 604831.0003. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC, ARG443GLN ({dbSNP rs35953626})
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<br />
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|
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SNP: rs35953626,
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gnomAD: rs35953626,
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|
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ClinVar: RCV000005670, RCV000248324, RCV000527342, RCV000987404, RCV001573446
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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>This variant, formerly titled ELLIS-VAN CREVELD SYNDROME, has been reclassified based on the report by Ruiz-Perez and Goodship (2009). </p><p>Ruiz-Perez et al. (2000) found a heterozygous 1328G-A transition in exon 10 of the EVC gene, resulting in an arg443-to-gln (R443Q) substitution, in a father and daughter with Ellis-van Creveld syndrome (EVC; 225500). Both patients had postaxial polydactyly of hands and feet, partial atrioventricular canal with common atrium, and agenesis of the upper lateral incisors bilaterally with enamel abnormalities. They were not considered to be of short stature (Digilio et al., 1995). </p><p>Ruiz-Perez and Goodship (2009) noted that the R443Q variant (rs35953626) has been reported to be a rare polymorphism that is more common in African populations and thus does not account for the phenotype. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 ELLIS-VAN CREVELD SYNDROME</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
WEYERS ACRODENTAL DYSOSTOSIS, INCLUDED (1 patient)
|
|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
EVC, SER307PRO
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<br />
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|
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SNP: rs121908426,
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gnomAD: rs121908426,
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ClinVar: RCV000005672, RCV001383029
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a child with classic Ellis-van Creveld syndrome (EVC; 225500) whose father had short stature, dysplastic nails, and widely spaced conical-shaped teeth without polydactyly (WAD; 193530), previously reported by Spranger and Tariverdian (1995), Ruiz-Perez et al. (2000) found compound heterozygosity for mutations in the EVC gene: a 919T-C transition in exon 7 resulting in a ser307-to-pro (S307P) substitution, which was inherited from the father, and a 1-bp deletion in exon 17, 2456delG (604831.0007), which was inherited from the mother. </p><p>D'Asdia et al. (2013) reported a patient (patient 6) with classic EVC who had the S307P mutation and another mutation in the EVC gene; his father was heterozygous for S307P and was clinically unaffected. The authors stated that although S307P is a recurrent mutation in EVC, no other mutation carrier besides the father reported by Ruiz-Perez et al. (2000) had been reported to be affected. D'Asdia et al. (2013) suggested that the clinical outcome of heterozygotes may be influenced by the genetic background of each individual carrier. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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EVC, 1-BP DEL, 2456G
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<br />
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SNP: rs794726666,
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ClinVar: RCV000005673, RCV003764530
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<p>For discussion of the 1-bp deletion in the EVC gene (2456delG) that was found in compound heterozygous state in a patient with Ellis-van Creveld syndrome (EVC; 225500) by Ruiz-Perez et al. (2000), see 604831.0006. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<strong>Dwarfism in the Amish. I. The Ellis-van Creveld syndrome.</strong>
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Nature Genet. 24: 203-204, 2000.
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Nakatomi, M., Hovorakova, M., Gritli-Linde, A., Blair, H. J., MacArthur, K., Peterka, M., Lesot, H., Peterkova, R., Ruiz-Perez, V. L., Goodship, J. A., Peters, H.
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<strong>Evc regulates a symmetrical response to Shh signaling in molar development.</strong>
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J. Dent. Res. 92: 222-228, 2013.
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[PubMed: 23315474]
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Pusapati, G. V., Hughes, C. E., Dorn, K. V., Zhang, D., Sugianto, P., Aravind, L., Rohatgi, R.
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<strong>EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.</strong>
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Dev. Cell 28: 483-496, 2014.
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[PubMed: 24582806]
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Blair, H. J., Rodriguez-Andres, M. E., Blanco, M. J., Wilson, A., Liu, Y.-N., Miles, C., Peters, H., Goodship, J. A.
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<strong>Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.</strong>
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Development 134: 2903-2912, 2007.
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[PubMed: 17660199]
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[Full Text: https://doi.org/10.1242/dev.007542]
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</p>
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<li>
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Goodship, J. A.
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<strong>Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to Hedgehog ligands.</strong>
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Am. J. Med. Genet. 151C: 341-351, 2009.
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[PubMed: 19876929]
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[Full Text: https://doi.org/10.1002/ajmg.c.30226]
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<li>
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J.
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<strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong>
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Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.
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[PubMed: 10700184]
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[Full Text: https://doi.org/10.1038/73508]
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</p>
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<li>
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<p class="mim-text-font">
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Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A.
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<strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong>
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Am. J. Hum. Genet. 72: 728-732, 2003.
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[PubMed: 12571802]
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[Full Text: https://doi.org/10.1086/368063]
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<p class="mim-text-font">
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Spranger, S., Tariverdian, G.
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<strong>Symptomatic heterozygosity in the Ellis-van-Creveld syndrome?</strong>
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Clin. Genet. 47: 217-220, 1995.
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[PubMed: 7628126]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03963.x]
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<p class="mim-text-font">
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Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W.
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<strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong>
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Hum. Molec. Genet. 18: 1813-1824, 2009.
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[PubMed: 19251731]
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[Full Text: https://doi.org/10.1093/hmg/ddp098]
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<p class="mim-text-font">
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Takamine, Y., Krejci, P., Mekikian, P. B., Wilcox, W. R.
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<strong>Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (Letter)</strong>
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Am. J. Med. Genet. 130A: 96-97, 2004.
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[PubMed: 15368503]
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[Full Text: https://doi.org/10.1002/ajmg.a.20579]
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