3340 lines
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Entry
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- *612277 - ADAMTS-LIKE PROTEIN 2; ADAMTSL2
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- OMIM
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<p>
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<span class="h4">*612277</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612277">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000197859;t=ENST00000651351" 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=9719" 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=612277" 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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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000197859;t=ENST00000651351" 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_001145320,NM_014694,XM_005272238,XM_005272239,XM_011519241,XM_011519242" 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_014694" 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=612277" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=11096&isoform_id=11096_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/ADAMTSL2" 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/29791700,41281450,74750384,119608501,119608502,119608503,193785284,194373777,223718260,530427265,530427267,767958837,929654043,1034672032,2462627438,2462627440,2462627442,2462627444" 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/Q86TH1" 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=9719" 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=ENSG00000197859;t=ENST00000651351" 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=ADAMTSL2" 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=ADAMTSL2" 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+9719" 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/ADAMTSL2" 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:9719" 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/9719" 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=chr9&hgg_gene=ENST00000651351.2&hgg_start=133532164&hgg_end=133575519&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14631" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/adamtsl2" 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=612277[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=612277[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ADAMTSL2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000197859" 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=ADAMTSL2" 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=ADAMTSL2" 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=ADAMTSL2" 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=ADAMTSL2&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/PA134920655" 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:14631" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0086408.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1925044" 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/ADAMTSL2#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:1925044" 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/9719/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://omia.org/OMIA001509/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9719" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070705-558" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ADAMTSL2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612277
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ADAMTS-LIKE PROTEIN 2; ADAMTSL2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KIAA0605
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ADAMTSL2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ADAMTSL2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/9/621?start=-3&limit=10&highlight=621">9q34.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:133532164-133575519&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'})">9:133,532,164-133,575,519</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/9/621?start=-3&limit=10&highlight=621">
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9q34.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Geleophysic dysplasia 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/231050"> 231050 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/612277" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/612277" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></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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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<p>ADAMTS proteases are secreted enzymes with a conserved organization that includes a metalloprotease domain and an ancillary domain containing 1 or more thrombospondin (see <a href="/entry/188060">188060</a>) type-1 repeats (TSRs). ADAMTSL2 belongs to the ADAMTS-like (ADAMTSL) subfamily, which comprises proteins containing ADAMTS ancillary domains but lacking the protease domain and, consequently, catalytic activity (summary by <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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 sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> cloned ADAMTSL2, which they designated KIAA0605. The 5-prime region of the cDNA contains an Alu sequence, and the deduced 951-amino acid protein shares similarity with bovine procollagen I N-proteinase (ADAMTS2; <a href="/entry/604539">604539</a>). RT-PCR detected high expression in kidney, liver, and lung, and low to moderate expression in all other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Hall, N. G., Klenotic, P., Anand-Apte, B., Apte, S. <strong>ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases.</strong> Matrix Biol. 22: 501-510, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667842</a>] [<a href="https://doi.org/10.1016/s0945-053x(03)00075-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14667842">Hall et al. (2003)</a> stated that the ADAMTSL2 gene contains an N-terminal thrombospondin type I domain, followed by a cysteine-rich domain, a spacer region, 6 additional thrombospondin type I repeats, and a C-terminal PLAC (protease and lacunin) domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14667842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> mapped the ADAMTSL2 gene to chromosome 9. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" 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="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> mapped the ADAMTSL2 gene to an interval on chromosome 9q34.2 defined by linkage analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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 in situ hybridization to human fetal tissue, <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> demonstrated ADAMTSL2 mRNA expression in cardiomyocytes, epidermis, dermal blood vessels, tracheal wall, skeletal muscle, pulmonary arteries, and bronchioles of the lung. Strong expression was also observed in chondrocyte columns in the hypertrophic and reserve zones of the proximal femoral growth plate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a yeast 2-hybrid screen of a human muscle cDNA library, <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> found that ADAMTSL2 bound to latent TGFB-binding protein-1 (LTBP1; <a href="/entry/150390">150390</a>), which plays a major role in the storage of latent TGFB in the extracellular matrix and regulates its availability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified the ADAMTSL2 gene and 6 other genes within a critical interval on chromosome 9q34.2-q34.3 linked to geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>). Because geleophysic dysplasia belongs to the group of acromelic dysplasias that also includes the autosomal recessive form of Weill-Marchesani syndrome (<a href="/entry/277600">277600</a>), which is caused by mutations in ADAMTS10 (<a href="/entry/608990">608990</a>), <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> considered ADAMTSL2 as the likely candidate among the genes within the interval. <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified 4 missense and 1 nonsense mutation in the ADAMTSL2 gene in individuals with geleophysic dysplasia. Functional studies in HEK293 cells showed that ADAMTSL2 mutations lead to reduced secretion of the mutated proteins, possibly owing to the misfolding of ADAMTSL2. A yeast 2-hybrid screen showed that ADAMTSL2 interacts with latent TGF-beta-binding protein-1 (LTBP1; <a href="/entry/150390">150390</a>). In addition, <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> observed a significant increase in total and active TGF-beta (<a href="/entry/190180">190180</a>) in culture medium as well as nuclear localization of phosphorylated SMAD2 (<a href="/entry/601366">601366</a>) in fibroblasts from individuals with geleophysic dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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="Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others. <strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong> J. Med. Genet. 48: 417-421, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415077[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/10.1136/jmg.2010.087544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415077">Allali et al. (2011)</a> analyzed the ADAMTSL2 gene in an additional 33 patients with geleophysic dysplasia from 30 families, and identified 14 different homozygous or compound heterozygous mutations in 14 patients (see, e.g., <a href="#0003">612277.0003</a>, <a href="#0006">612277.0006</a>, and <a href="#0007">612277.0007</a>). All mutations cosegregated with disease in the respective families and were not found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 consanguineous Arab families with geleophysic dysplaisa-1, <a href="#2" class="mim-tip-reference" title="Ben-Salem, S., Hertecant, J., Al-Shamsi, A. M., Ali, B. R., Al-Gazali, L. <strong>Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.</strong> Birth Defects Res. A Clin. Molec. Teratol. 97: 764-769, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24014090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24014090</a>] [<a href="https://doi.org/10.1002/bdra.23170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24014090">Ben-Salem et al. (2013)</a> identified homozygous missense mutations in the ADAMTSL2 gene (see, e.g., <a href="#0008">612277.0008</a>) that segregated with the disorder in the families. The mutations were not found in the NHLBI EVS database or in ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24014090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 48-year-old man with GPHYSD1, one of the original patients described by <a href="#7" class="mim-tip-reference" title="Spranger, J. W., Gilbert, E. F., Tuffli, G. A., Rossiter, F. P., Opitz, J. M. <strong>Geleophysic dwarfism--a 'focal' mucopolysaccharidosis? (Letter)</strong> Lancet 298: 97-98, 1971. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4104008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4104008</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)92073-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4104008">Spranger et al. (1971)</a>, <a href="#5" class="mim-tip-reference" title="Legare, J. M., Modaff, P., Strom, S. P., Pauli, R. M., Bartlett, H. L. <strong>Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.</strong> Am. J. Med. Genet. 176A: 2237-2242, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30195254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30195254</a>] [<a href="https://doi.org/10.1002/ajmg.a.40377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30195254">Legare et al. (2018)</a> identified compound heterozygous mutations in the ADAMTSL2 gene (NM_014694.3): the previously identified D167N mutation and a 1-bp deletion (c.31delG) resulting in a frameshift and premature termination (Ala11ProfsTer10). The frameshift was predicted to be pathogenic based on ACMG criteria. The parents were not tested so there was a small possibility that the mutations occurred in cis; the authors considered this unlikely because the patient had 2 affected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=30195254+4104008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>8 Selected Examples</a>):</strong>
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<a href="/allelicVariants/612277" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612277[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<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> rs113994121 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994121;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/rs113994121?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=rs113994121" 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=rs113994121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a consanguineous French Polynesian family segregating geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>), <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified homozygosity for a C-to-T transition at nucleotide 440 in exon 5 of the ADAMTSL2 gene, resulting in a pro-to-leu substitution at codon 147 of the protein (P147L). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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> rs113994122 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994122;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/rs113994122?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=rs113994122" 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=rs113994122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 consanguineous families of North African descent, 1 from Morocco and 1 from Algeria, with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>), <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified homozygosity for a G-to-A transition at nucleotide 338 in exon 4 of the ADAMTSL2 gene, resulting in an arg-to-his substitution at codon 113 (R113H). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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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ADAMTSL2, GLU114LYS
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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> rs113994123 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994123;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/rs113994123?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=rs113994123" 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=rs113994123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Turkish family with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>), <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified homozygosity for a 340G-A transition in exon 4 of the ADAMTSL2 gene, resulting in a glu114-to-lys (E114K) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an English patient with geleophysic dysplasia-1, <a href="#1" class="mim-tip-reference" title="Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others. <strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong> J. Med. Genet. 48: 417-421, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415077[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/10.1136/jmg.2010.087544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415077">Allali et al. (2011)</a> identified compound heterozygosity for the E114K mutation in the cysteine-rich domain of the protein and a 215G-A transition in exon 2 of the ADAMTSL2 gene, resulting in an arg72-to-gln (R72Q; <a href="#0006">612277.0006</a>) substitution within the thrombospondin type 1 repeat. <a href="#1" class="mim-tip-reference" title="Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others. <strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong> J. Med. Genet. 48: 417-421, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415077[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/10.1136/jmg.2010.087544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415077">Allali et al. (2011)</a> also identified the E114K mutation in a French woman with GPHYSD1, but a second mutation was not detected in that patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GELEOPHYSIC DYSPLASIA 1</strong>
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ADAMTSL2, GLU811ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113994124 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994124;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=rs113994124" 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=rs113994124" 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=RCV000000731" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000731" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000731</a>
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<p>In a French child with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>) from a nonconsanguineous family, <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified compound heterozygosity for mutations in exon 16 of the ADAMTSL2 gene. One allele carried a G-to-A transition at nucleotide 2431, leading to a gly-to-arg substitution at codon 811 (G811R). The other allele carried a nonsense mutation (<a href="#0005">612277.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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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<strong>.0005 GELEOPHYSIC DYSPLASIA 1</strong>
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ADAMTSL2, TRP862TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113994125 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994125;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=rs113994125" 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=rs113994125" 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=RCV000000732" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000732" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000732</a>
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<p>In a French child with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>) from a nonconsanguineous family, <a href="#4" class="mim-tip-reference" title="Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V. <strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong> Nature Genet. 40: 1119-1123, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18677313">Le Goff et al. (2008)</a> identified a G-to-A transition at nucleotide 2586 in exon 16 of the ADAMTSL2 gene, resulting in a trp-to-stop substitution at codon 862 (W862X). This mutation was found in compound heterozygosity with a missense mutation (<a href="#0004">612277.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18677313" 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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<span class="mim-font">
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<strong>.0006 GELEOPHYSIC DYSPLASIA 1</strong>
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</h4>
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ADAMTSL2, ARG72GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907064 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907064;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=rs387907064" 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=rs387907064" 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=RCV000023933 OR RCV005055523" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023933, RCV005055523" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023933...</a>
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<span class="mim-text-font">
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<p>For discussion of the 215G-A transition in exon 2 of the ADAMTSL2 gene, resulting in an arg72-to-gln (R72Q) substitution, found in compound heterozygous state in an English patient with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>) by <a href="#1" class="mim-tip-reference" title="Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others. <strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong> J. Med. Genet. 48: 417-421, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415077[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/10.1136/jmg.2010.087544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415077">Allali et al. (2011)</a>, see <a href="#0003">612277.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415077" 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="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 GELEOPHYSIC DYSPLASIA 1</strong>
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</span>
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</h4>
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ADAMTSL2, ARG221CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907065;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=rs387907065" 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=rs387907065" 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=RCV000023934" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023934" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023934</a>
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<span class="mim-text-font">
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<p>In 3 unrelated patients of Pakistani origin with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>), <a href="#1" class="mim-tip-reference" title="Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others. <strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong> J. Med. Genet. 48: 417-421, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415077[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/10.1136/jmg.2010.087544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21415077">Allali et al. (2011)</a> identified homozygosity for a 661C-T transition in exon 6 of the ADAMTSL2 gene, resulting in an arg221-to-cys (R221C) substitution in the spacer module of the protein. The mutation segregated with disease in each family and was not found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21415077" 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="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 GELEOPHYSIC DYSPLASIA 1</strong>
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</h4>
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ADAMTSL2, ASP167ASN
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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> rs761886575 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761886575;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/rs761886575?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=rs761886575" 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=rs761886575" 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=RCV000762789 OR RCV002273828" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000762789, RCV002273828" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000762789...</a>
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<p>In a 2-year-old boy, born to consanguineous Pakistani parents, with geleophysic dysplasia-1 (GPHYSD1; <a href="/entry/231050">231050</a>), <a href="#2" class="mim-tip-reference" title="Ben-Salem, S., Hertecant, J., Al-Shamsi, A. M., Ali, B. R., Al-Gazali, L. <strong>Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.</strong> Birth Defects Res. A Clin. Molec. Teratol. 97: 764-769, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24014090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24014090</a>] [<a href="https://doi.org/10.1002/bdra.23170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24014090">Ben-Salem et al. (2013)</a> identified homozygosity for a c.499G-A transition (c.499G-A, NM_001145320.1) in exon 6 of the ADAMTSL2 gene, resulting in an asp167-to-asn (D167N) substitution at a conserved residue. The mutation was found by Sanger sequencing of the ADAMTSL2 gene. The parents were heterozygous for the mutation, which was not found in the NHLBI EVS database or in ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24014090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Allali2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others.
|
|
<strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong>
|
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J. Med. Genet. 48: 417-421, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21415077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21415077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21415077[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=21415077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2010.087544" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Ben-Salem2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ben-Salem, S., Hertecant, J., Al-Shamsi, A. M., Ali, B. R., Al-Gazali, L.
|
|
<strong>Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.</strong>
|
|
Birth Defects Res. A Clin. Molec. Teratol. 97: 764-769, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24014090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24014090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24014090" 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/bdra.23170" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Hall2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hall, N. G., Klenotic, P., Anand-Apte, B., Apte, S.
|
|
<strong>ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases.</strong>
|
|
Matrix Biol. 22: 501-510, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14667842" 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/s0945-053x(03)00075-1" 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="4" class="mim-anchor"></a>
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<a id="Le Goff2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V.
|
|
<strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong>
|
|
Nature Genet. 40: 1119-1123, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18677313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18677313</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18677313[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=18677313" 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/ng.199" 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="5" class="mim-anchor"></a>
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<a id="Legare2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Legare, J. M., Modaff, P., Strom, S. P., Pauli, R. M., Bartlett, H. L.
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<strong>Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.</strong>
|
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Am. J. Med. Genet. 176A: 2237-2242, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30195254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30195254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30195254" 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.40377" 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="6" class="mim-anchor"></a>
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<a id="Nagase1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
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DNA Res. 5: 31-39, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" 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/dnares/5.1.31" 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="7" class="mim-anchor"></a>
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<a id="Spranger1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spranger, J. W., Gilbert, E. F., Tuffli, G. A., Rossiter, F. P., Opitz, J. M.
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<strong>Geleophysic dwarfism--a 'focal' mucopolysaccharidosis? (Letter)</strong>
|
|
Lancet 298: 97-98, 1971. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4104008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4104008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4104008" 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/s0140-6736(71)92073-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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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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</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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Matthew B. Gross - updated : 09/27/2024
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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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Sonja A. Rasmussen - updated : 03/26/2019<br>Carol A. Bocchini - updated : 03/25/2019<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 7/12/2011<br>Ada Hamosh - updated : 10/22/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 9/9/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 09/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/27/2019<br>carol : 03/26/2019<br>carol : 03/25/2019<br>carol : 01/05/2018<br>carol : 01/04/2018<br>carol : 08/04/2016<br>wwang : 08/23/2011<br>terry : 8/22/2011<br>wwang : 7/19/2011<br>terry : 7/12/2011<br>terry : 7/12/2011<br>alopez : 11/6/2008<br>alopez : 11/6/2008<br>terry : 10/22/2008<br>wwang : 9/9/2008
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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 class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612277
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ADAMTS-LIKE PROTEIN 2; ADAMTSL2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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KIAA0605
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ADAMTSL2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 9q34.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:133,532,164-133,575,519 </span>
|
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
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9q34.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Geleophysic dysplasia 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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231050
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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">
|
|
<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>ADAMTS proteases are secreted enzymes with a conserved organization that includes a metalloprotease domain and an ancillary domain containing 1 or more thrombospondin (see 188060) type-1 repeats (TSRs). ADAMTSL2 belongs to the ADAMTS-like (ADAMTSL) subfamily, which comprises proteins containing ADAMTS ancillary domains but lacking the protease domain and, consequently, catalytic activity (summary by Le Goff et al., 2008). </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">
|
|
<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1998) cloned ADAMTSL2, which they designated KIAA0605. The 5-prime region of the cDNA contains an Alu sequence, and the deduced 951-amino acid protein shares similarity with bovine procollagen I N-proteinase (ADAMTS2; 604539). RT-PCR detected high expression in kidney, liver, and lung, and low to moderate expression in all other tissues examined. </p><p>Hall et al. (2003) stated that the ADAMTSL2 gene contains an N-terminal thrombospondin type I domain, followed by a cysteine-rich domain, a spacer region, 6 additional thrombospondin type I repeats, and a C-terminal PLAC (protease and lacunin) domain. </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>Mapping</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the ADAMTSL2 gene to chromosome 9. </p><p>Le Goff et al. (2008) mapped the ADAMTSL2 gene to an interval on chromosome 9q34.2 defined by linkage analysis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
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<span class="mim-font">
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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>By in situ hybridization to human fetal tissue, Le Goff et al. (2008) demonstrated ADAMTSL2 mRNA expression in cardiomyocytes, epidermis, dermal blood vessels, tracheal wall, skeletal muscle, pulmonary arteries, and bronchioles of the lung. Strong expression was also observed in chondrocyte columns in the hypertrophic and reserve zones of the proximal femoral growth plate. </p><p>In a yeast 2-hybrid screen of a human muscle cDNA library, Le Goff et al. (2008) found that ADAMTSL2 bound to latent TGFB-binding protein-1 (LTBP1; 150390), which plays a major role in the storage of latent TGFB in the extracellular matrix and regulates its availability. </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>Le Goff et al. (2008) identified the ADAMTSL2 gene and 6 other genes within a critical interval on chromosome 9q34.2-q34.3 linked to geleophysic dysplasia-1 (GPHYSD1; 231050). Because geleophysic dysplasia belongs to the group of acromelic dysplasias that also includes the autosomal recessive form of Weill-Marchesani syndrome (277600), which is caused by mutations in ADAMTS10 (608990), Le Goff et al. (2008) considered ADAMTSL2 as the likely candidate among the genes within the interval. Le Goff et al. (2008) identified 4 missense and 1 nonsense mutation in the ADAMTSL2 gene in individuals with geleophysic dysplasia. Functional studies in HEK293 cells showed that ADAMTSL2 mutations lead to reduced secretion of the mutated proteins, possibly owing to the misfolding of ADAMTSL2. A yeast 2-hybrid screen showed that ADAMTSL2 interacts with latent TGF-beta-binding protein-1 (LTBP1; 150390). In addition, Le Goff et al. (2008) observed a significant increase in total and active TGF-beta (190180) in culture medium as well as nuclear localization of phosphorylated SMAD2 (601366) in fibroblasts from individuals with geleophysic dysplasia. </p><p>Allali et al. (2011) analyzed the ADAMTSL2 gene in an additional 33 patients with geleophysic dysplasia from 30 families, and identified 14 different homozygous or compound heterozygous mutations in 14 patients (see, e.g., 612277.0003, 612277.0006, and 612277.0007). All mutations cosegregated with disease in the respective families and were not found in 200 control chromosomes. </p><p>In affected members of 2 consanguineous Arab families with geleophysic dysplaisa-1, Ben-Salem et al. (2013) identified homozygous missense mutations in the ADAMTSL2 gene (see, e.g., 612277.0008) that segregated with the disorder in the families. The mutations were not found in the NHLBI EVS database or in ethnically matched controls. </p><p>In a 48-year-old man with GPHYSD1, one of the original patients described by Spranger et al. (1971), Legare et al. (2018) identified compound heterozygous mutations in the ADAMTSL2 gene (NM_014694.3): the previously identified D167N mutation and a 1-bp deletion (c.31delG) resulting in a frameshift and premature termination (Ala11ProfsTer10). The frameshift was predicted to be pathogenic based on ACMG criteria. The parents were not tested so there was a small possibility that the mutations occurred in cis; the authors considered this unlikely because the patient had 2 affected sibs. </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>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GELEOPHYSIC DYSPLASIA 1</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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ADAMTSL2, PRO147LEU
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<br />
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SNP: rs113994121,
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gnomAD: rs113994121,
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ClinVar: RCV000000728
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a consanguineous French Polynesian family segregating geleophysic dysplasia-1 (GPHYSD1; 231050), Le Goff et al. (2008) identified homozygosity for a C-to-T transition at nucleotide 440 in exon 5 of the ADAMTSL2 gene, resulting in a pro-to-leu substitution at codon 147 of the protein (P147L). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GELEOPHYSIC DYSPLASIA 1</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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ADAMTSL2, ARG113HIS
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<br />
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SNP: rs113994122,
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gnomAD: rs113994122,
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ClinVar: RCV000000729, RCV003162202
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 consanguineous families of North African descent, 1 from Morocco and 1 from Algeria, with geleophysic dysplasia-1 (GPHYSD1; 231050), Le Goff et al. (2008) identified homozygosity for a G-to-A transition at nucleotide 338 in exon 4 of the ADAMTSL2 gene, resulting in an arg-to-his substitution at codon 113 (R113H). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 GELEOPHYSIC DYSPLASIA 1</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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ADAMTSL2, GLU114LYS
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<br />
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SNP: rs113994123,
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gnomAD: rs113994123,
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ClinVar: RCV000000730, RCV001267960, RCV004700176
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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 affected members of a consanguineous Turkish family with geleophysic dysplasia-1 (GPHYSD1; 231050), Le Goff et al. (2008) identified homozygosity for a 340G-A transition in exon 4 of the ADAMTSL2 gene, resulting in a glu114-to-lys (E114K) substitution. </p><p>In an English patient with geleophysic dysplasia-1, Allali et al. (2011) identified compound heterozygosity for the E114K mutation in the cysteine-rich domain of the protein and a 215G-A transition in exon 2 of the ADAMTSL2 gene, resulting in an arg72-to-gln (R72Q; 612277.0006) substitution within the thrombospondin type 1 repeat. Allali et al. (2011) also identified the E114K mutation in a French woman with GPHYSD1, but a second mutation was not detected in that patient. </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>.0004 GELEOPHYSIC DYSPLASIA 1</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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ADAMTSL2, GLU811ARG
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<br />
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|
|
SNP: rs113994124,
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|
|
ClinVar: RCV000000731
|
|
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|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French child with geleophysic dysplasia-1 (GPHYSD1; 231050) from a nonconsanguineous family, Le Goff et al. (2008) identified compound heterozygosity for mutations in exon 16 of the ADAMTSL2 gene. One allele carried a G-to-A transition at nucleotide 2431, leading to a gly-to-arg substitution at codon 811 (G811R). The other allele carried a nonsense mutation (612277.0005). </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GELEOPHYSIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADAMTSL2, TRP862TER
|
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|
|
<br />
|
|
|
|
SNP: rs113994125,
|
|
|
|
|
|
|
|
ClinVar: RCV000000732
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French child with geleophysic dysplasia-1 (GPHYSD1; 231050) from a nonconsanguineous family, Le Goff et al. (2008) identified a G-to-A transition at nucleotide 2586 in exon 16 of the ADAMTSL2 gene, resulting in a trp-to-stop substitution at codon 862 (W862X). This mutation was found in compound heterozygosity with a missense mutation (612277.0004). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GELEOPHYSIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADAMTSL2, ARG72GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907064,
|
|
|
|
|
|
|
|
ClinVar: RCV000023933, RCV005055523
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 215G-A transition in exon 2 of the ADAMTSL2 gene, resulting in an arg72-to-gln (R72Q) substitution, found in compound heterozygous state in an English patient with geleophysic dysplasia-1 (GPHYSD1; 231050) by Allali et al. (2011), see 612277.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GELEOPHYSIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADAMTSL2, ARG221CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907065,
|
|
|
|
|
|
|
|
ClinVar: RCV000023934
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated patients of Pakistani origin with geleophysic dysplasia-1 (GPHYSD1; 231050), Allali et al. (2011) identified homozygosity for a 661C-T transition in exon 6 of the ADAMTSL2 gene, resulting in an arg221-to-cys (R221C) substitution in the spacer module of the protein. The mutation segregated with disease in each family and was not found in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GELEOPHYSIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ADAMTSL2, ASP167ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs761886575,
|
|
|
|
|
|
gnomAD: rs761886575,
|
|
|
|
|
|
ClinVar: RCV000762789, RCV002273828
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old boy, born to consanguineous Pakistani parents, with geleophysic dysplasia-1 (GPHYSD1; 231050), Ben-Salem et al. (2013) identified homozygosity for a c.499G-A transition (c.499G-A, NM_001145320.1) in exon 6 of the ADAMTSL2 gene, resulting in an asp167-to-asn (D167N) substitution at a conserved residue. The mutation was found by Sanger sequencing of the ADAMTSL2 gene. The parents were heterozygous for the mutation, which was not found in the NHLBI EVS database or in ethnically matched controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., and 18 others.
|
|
<strong>Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</strong>
|
|
J. Med. Genet. 48: 417-421, 2011.
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[PubMed: 21415077]
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[Full Text: https://doi.org/10.1136/jmg.2010.087544]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ben-Salem, S., Hertecant, J., Al-Shamsi, A. M., Ali, B. R., Al-Gazali, L.
|
|
<strong>Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.</strong>
|
|
Birth Defects Res. A Clin. Molec. Teratol. 97: 764-769, 2013.
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[PubMed: 24014090]
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[Full Text: https://doi.org/10.1002/bdra.23170]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Hall, N. G., Klenotic, P., Anand-Apte, B., Apte, S.
|
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<strong>ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases.</strong>
|
|
Matrix Biol. 22: 501-510, 2003.
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[PubMed: 14667842]
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[Full Text: https://doi.org/10.1016/s0945-053x(03)00075-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J., Bauer, F., Flori, E., Prost-Squarcioni, C., Krakow, D., Ge, G., Greenspan, D. S., Bonnet, D., Le Merrer, M., Munnich, A., Apte, S. S., Cormier-Daire, V.
|
|
<strong>ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.</strong>
|
|
Nature Genet. 40: 1119-1123, 2008.
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|
[PubMed: 18677313]
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[Full Text: https://doi.org/10.1038/ng.199]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Legare, J. M., Modaff, P., Strom, S. P., Pauli, R. M., Bartlett, H. L.
|
|
<strong>Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.</strong>
|
|
Am. J. Med. Genet. 176A: 2237-2242, 2018.
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|
[PubMed: 30195254]
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[Full Text: https://doi.org/10.1002/ajmg.a.40377]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
|
DNA Res. 5: 31-39, 1998.
|
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|
[PubMed: 9628581]
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[Full Text: https://doi.org/10.1093/dnares/5.1.31]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Spranger, J. W., Gilbert, E. F., Tuffli, G. A., Rossiter, F. P., Opitz, J. M.
|
|
<strong>Geleophysic dwarfism--a 'focal' mucopolysaccharidosis? (Letter)</strong>
|
|
Lancet 298: 97-98, 1971. Note: Originally Volume II.
|
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|
|
[PubMed: 4104008]
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[Full Text: https://doi.org/10.1016/s0140-6736(71)92073-3]
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Matthew B. Gross - updated : 09/27/2024<br>Sonja A. Rasmussen - updated : 03/26/2019<br>Carol A. Bocchini - updated : 03/25/2019<br>Marla J. F. O'Neill - updated : 8/22/2011<br>Marla J. F. O'Neill - updated : 7/12/2011<br>Ada Hamosh - updated : 10/22/2008
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Patricia A. Hartz : 9/9/2008
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mgross : 09/27/2024<br>carol : 03/27/2019<br>carol : 03/26/2019<br>carol : 03/25/2019<br>carol : 01/05/2018<br>carol : 01/04/2018<br>carol : 08/04/2016<br>wwang : 08/23/2011<br>terry : 8/22/2011<br>wwang : 7/19/2011<br>terry : 7/12/2011<br>terry : 7/12/2011<br>alopez : 11/6/2008<br>alopez : 11/6/2008<br>terry : 10/22/2008<br>wwang : 9/9/2008
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