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Entry
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- *610991 - OBSCURIN-LIKE 1; OBSL1
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- OMIM
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<p>
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<span class="h4">*610991</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/610991">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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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<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=ENSG00000124006;t=ENST00000404537" 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=23363" 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=610991" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000124006;t=ENST00000404537" 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_001173408,NM_001173431,NM_015311,XM_011510857,XM_011510863,XM_011510864,XM_011510865,XM_011510866,XM_017003696,XM_017003697,XM_017003698,XM_017003699,XM_017003700,XM_047443799,XM_047443800" 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_015311" 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=610991" 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=19306&isoform_id=19306_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/OBSL1" 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/10435919,13938170,20521121,38303812,133907717,133907719,144226847,221042608,291084513,291084534,327478605,767917324,767917337,767917339,767917341,767917343,1034612722,1034612724,1034612726,1034612728,1034612731,2217326585,2217326588,2462571377,2462571379,2462571381,2462571383,2462571385,2462571387,2462571389,2462571391,2462571393,2462571395,2462571397,2462571399" 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/O75147" 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=23363" 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=ENSG00000124006;t=ENST00000404537" 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=OBSL1" 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=OBSL1" 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+23363" 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/OBSL1" 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:23363" 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/23363" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000404537.6&hgg_start=219547206&hgg_end=219571539&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 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:29092" 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/obsl1" 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=610991[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 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=610991[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/OBSL1/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/ENSG00000124006" 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=OBSL1" 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=OBSL1" 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=OBSL1" 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=OBSL1&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/PA142671235" 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:29092" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2138628" 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/OBSL1#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:2138628" 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/23363/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=23363" 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-050809-29" 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=OBSL1&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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610991
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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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OBSCURIN-LIKE 1; OBSL1
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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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KIAA0657
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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=OBSL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">OBSL1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/1045?start=-3&limit=10&highlight=1045">2q35</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:219547206-219571539&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:219,547,206-219,571,539</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/2/1045?start=-3&limit=10&highlight=1045">
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2q35
|
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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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3-M syndrome 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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<a href="/entry/612921"> 612921 </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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/610991" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610991" 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="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, <a href="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> obtained a partial OBSL1 clone, which they designated KIAA0657. RT-PCR detected high expression in heart and ovary, moderate expression in brain, skeletal muscle, and testis, and low expression in all other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching protein and nucleotide databases for sequences similar to the N-terminal fibronectin domain of obscurin (<a href="/entry/608616">608616</a>), followed by PCR and 5-prime RACE of a heart cDNA library, <a href="#2" class="mim-tip-reference" title="Geisler, S. B., Robinson, D., Hauringa, M., Raeker, M. O., Borisov, A. B., Westfall, M. V., Russell, M. W. <strong>Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.</strong> Genomics 89: 521-531, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17289344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17289344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17289344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17289344">Geisler et al. (2007)</a> obtained full-length OBSL1 and several alternatively spliced products. The variants could be arranged in 3 main groups, A, B, or C, depending upon which of 3 alternative translation stop codons was used. The encoded proteins ranged in predicted molecular mass from 130 to 230 kD. The longest transcript, OBSL1-A, encodes a protein with 4 tandem N-terminal immunoglobulin (Ig)-like domains, a central fibronectin domain, and 13 C-terminal Ig domains. The shorter splice variants encode proteins with fewer C-terminal Ig domains, and the shortest, OBSL1-B, contains only 3 C-terminal Ig domains. Northern blot analysis detected a 6-kb transcript (OBSL1-A) highly expressed in heart and more weakly in skeletal muscle and testis. A 3.3-kb transcript (OBSL1-B) was detected in most tissues, with highest expression in heart and placenta. Other variants ranging from about 4.9 to 5.8 kb were detected in several noncardiac tissues. Western blot analysis of adult human and rat heart lysates detected predominant expression of OBSL1-A at an apparent molecular mass of about 230 kD. Several other bands were more predominant in human heart lysates than in those from rat. Immunohistochemical analysis of isolated rat cardiac myocytes localized Obsl1 to the intercalated disc, to the perinuclear region, and overlying the Z lines and, to a lesser extent, the M bands. Accumulation of Obsl1 was noted between adjacent but not yet fused myofibrils. In these areas, Obsl1 was arranged in a linear or dotted pattern with accumulation overlying the Z lines. In cultured rat cardiac myocytes, the localization of Obsl1 was dynamic. The intracellular protein distribution of OBSL1 and its domain organization led <a href="#2" class="mim-tip-reference" title="Geisler, S. B., Robinson, D., Hauringa, M., Raeker, M. O., Borisov, A. B., Westfall, M. V., Russell, M. W. <strong>Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.</strong> Genomics 89: 521-531, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17289344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17289344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17289344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17289344">Geisler et al. (2007)</a> to propose that OBSL1 is a cytoskeletal adaptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17289344" 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="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a> stated that the A, B, and C isoforms of OBSL1 contain 1,896, 1,401, and 1.025 amino acids, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19481195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Geisler, S. B., Robinson, D., Hauringa, M., Raeker, M. O., Borisov, A. B., Westfall, M. V., Russell, M. W. <strong>Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.</strong> Genomics 89: 521-531, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17289344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17289344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17289344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17289344">Geisler et al. (2007)</a> determined that the OBSL1 gene contains 22 exons and spans about 25 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17289344" 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="#4" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> mapped the OBSL1 gene to chromosome 2. <a href="#2" class="mim-tip-reference" title="Geisler, S. B., Robinson, D., Hauringa, M., Raeker, M. O., Borisov, A. B., Westfall, M. V., Russell, M. W. <strong>Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.</strong> Genomics 89: 521-531, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17289344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17289344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17289344[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.12.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17289344">Geisler et al. (2007)</a> stated that the OBSL1 gene maps to chromosome 2q35. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17289344+9734811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals from 10 unrelated families with 3M syndrome-2 (3M2; <a href="/entry/612921">612921</a>), <a href="#3" class="mim-tip-reference" title="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a> identified homozygous or compound heterozygous mutations in the OBSL1 gene (see, e.g., <a href="#0001">610991.0001</a>-<a href="#0005">610991.0005</a>). All of the mutations were truncating mutations within the first 6 exons of the gene and affected all known isoforms, resulting in complete loss of OBSL1. Thus, 3M syndrome-2 represents the null phenotype of human OBSL1. All patients had short stature, prominent heels, and a distinctive facial appearance with anteverted nares, fleshy tipped nose, frontal bossing, midface hypoplasia, and prominent heels, and were phenotypically indistinguishable from those with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>) which is due to mutations in the CUL7 gene (<a href="/entry/609577">609577</a>). Knockdown of OBSL1 via siRNAs in HEK cells led to a decrease in CUL7 levels, suggesting a role for OBSL1 in the maintenance of normal levels of CUL7. These findings suggested that the 2 proteins work in the same pathway that affects cell proliferation and human growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19481195" 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 16.5-year-old Turkish boy with 3M syndrome, <a href="#1" class="mim-tip-reference" title="Demir, K., Altincik, A., Bober, E. <strong>Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.</strong> J. Pediat. Endocr. Metab. 26: 147-150, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23457316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23457316</a>] [<a href="https://doi.org/10.1515/jpem-2012-0239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23457316">Demir et al. (2013)</a> identified homozygosity for a frameshift mutation in the OBSL1 gene (<a href="#0006">610991.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23457316" 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 16-month-old Turkish girl with 3M syndrome, <a href="#5" class="mim-tip-reference" title="Keskin, M., Sahin, N. M., Kurnaz, E., Bayramoglu, E., Erdeve, S. S., Aycan, Z., Cetinkaya, S. <strong>A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene.</strong> J. Clin. Res. Pediat. Endocr. 9: 91-94, 2017. Note: Erratum: J. Clin. Res. Pediat. Endocr. 11: 109 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27796265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27796265</a>] [<a href="https://doi.org/10.4274/jcrpe.3238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27796265">Keskin et al. (2017)</a> identified homozygosity for the most prevalent mutation in the OBSL1 gene, a 1-bp duplication (<a href="#0001">610991.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27796265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610991[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> rs762334954 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs762334954;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/rs762334954?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=rs762334954" 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=rs762334954" 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 4 unrelated families of Asian origin with 3M syndrome-2 (3M2; <a href="/entry/612921">612921</a>), <a href="#3" class="mim-tip-reference" title="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a> identified a homozygous 1-bp insertion (1273insA) in exon 3 of the OBSL1 gene, causing a frameshift predicted to result in a premature termination codon (Thr425AsnfsTer40). The mutation occurred near the N terminus and affected all OBSL1 isoforms, consistent with complete loss of protein function and a null phenotype. Two of the families were large consanguineous families with multiple affected individuals. Two additional probands with the disorder were compound heterozygous for the 1273insA mutation and another truncating mutation in the OBSL1 gene: a 1149C-A transversion in exon 3, resulting in a cys383-to-ter substitution (C383X; <a href="#0002">610991.0002</a>), and a 10-bp deletion in exon 3 (<a href="#0003">610991.0003</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19481195" 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 16-month-old Turkish girl with 3M syndrome, <a href="#5" class="mim-tip-reference" title="Keskin, M., Sahin, N. M., Kurnaz, E., Bayramoglu, E., Erdeve, S. S., Aycan, Z., Cetinkaya, S. <strong>A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene.</strong> J. Clin. Res. Pediat. Endocr. 9: 91-94, 2017. Note: Erratum: J. Clin. Res. Pediat. Endocr. 11: 109 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27796265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27796265</a>] [<a href="https://doi.org/10.4274/jcrpe.3238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27796265">Keskin et al. (2017)</a> identified homozygosity for this mutation, which they designated c.1273dupA, in the OBSL1 gene. Her unaffected consanguineous parents were heterozygous for the mutation. Although <a href="#5" class="mim-tip-reference" title="Keskin, M., Sahin, N. M., Kurnaz, E., Bayramoglu, E., Erdeve, S. S., Aycan, Z., Cetinkaya, S. <strong>A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene.</strong> J. Clin. Res. Pediat. Endocr. 9: 91-94, 2017. Note: Erratum: J. Clin. Res. Pediat. Endocr. 11: 109 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27796265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27796265</a>] [<a href="https://doi.org/10.4274/jcrpe.3238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27796265">Keskin et al. (2017)</a> referred to the effect on the protein in their patient as Thr45AsnfsTer40, and in previously reported patients as Thr245fsTer40, they stated in a personal communication (<a href="#6" class="mim-tip-reference" title="Keskin, M. <strong>Personal Communication.</strong> Ankara, Turkey 01/29/2019."None>Keskin, 2019</a>) that Thr425AsnfsTer40 is the correct designation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27796265" 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">rs121918215 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918215;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=rs121918215" 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=rs121918215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the cys383-to-ter (C383X) mutation in the OBSL1 gene that was found in compound heterozygous state in a patient with 3M syndrome-2 (3M2; <a href="/entry/612921">612921</a>) by <a href="#3" class="mim-tip-reference" title="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a>, see <a href="#0001">610991.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19481195" 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>For discussion of the 10-bp deletion in the OBSL1 gene that was found in compound heterozygous state in a patient with 3M syndrome-2 (3M2; <a href="/entry/612921">612921</a>) by <a href="#3" class="mim-tip-reference" title="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a>, see <a href="#0001">610991.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19481195" 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">rs1553538488 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553538488;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=rs1553538488" 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=rs1553538488" 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 patient with 3M syndrome-2 (3M2; <a href="/entry/612921">612921</a>), <a href="#3" class="mim-tip-reference" title="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a> identified a homozygous 1-bp insertion (690insC) in exon 2 of the OBSL1 gene, resulting in a frameshift and premature termination. The mutation affected all OBSL1 isoforms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19481195" 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> rs121918216 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918216;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/rs121918216?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=rs121918216" 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=rs121918216" 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 Egyptian brothers with 3M syndrome-2 (3M2; <a href="/entry/612921">612921</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Temtamy, S. A., Aglan, M. S., Ashour, A. M., Ramzy, M. I., Hosny, L. A., Mostafa, M. I. <strong>3-M syndrome: a report of three Egyptian cases with review of the literature.</strong> Clin. Dysmorph. 15: 55-64, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16531729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16531729</a>] [<a href="https://doi.org/10.1097/01.mcd.0000198926.01706.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16531729">Temtamy et al. (2006)</a>, <a href="#3" class="mim-tip-reference" title="Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E. <strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong> Am. J. Hum. Genet. 84: 801-806, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19481195">Hanson et al. (2009)</a> identified a homozygous 1463C-T transition in exon 4 of the OBSL1 gene, resulting in an arg489-to-ter (R489X) substitution. The mutation affected all OBSL1 isoforms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16531729+19481195" 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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<h4>
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<span class="mim-font">
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<strong>.0006 THREE M SYNDROME 2</strong>
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</span>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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OBSL1, DEL/INS, 457T
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559160379 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559160379;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=rs1559160379" 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=rs1559160379" 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=RCV000754639" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000754639" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000754639</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a 16.5-year-old Turkish boy with 3M syndrome (3M2; <a href="/entry/612921">612921</a>), <a href="#1" class="mim-tip-reference" title="Demir, K., Altincik, A., Bober, E. <strong>Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.</strong> J. Pediat. Endocr. Metab. 26: 147-150, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23457316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23457316</a>] [<a href="https://doi.org/10.1515/jpem-2012-0239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23457316">Demir et al. (2013)</a> identified homozygosity for a deletion-insertion mutation (c.457_458delinsT) in exon 2 of the OBSL1 gene, causing a frameshift resulting in gly153fs. His unaffected first-cousin parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23457316" 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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</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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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Demir2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Demir, K., Altincik, A., Bober, E.
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<strong>Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.</strong>
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|
J. Pediat. Endocr. Metab. 26: 147-150, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23457316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23457316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23457316" 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/10.1515/jpem-2012-0239" 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="Geisler2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Geisler, S. B., Robinson, D., Hauringa, M., Raeker, M. O., Borisov, A. B., Westfall, M. V., Russell, M. W.
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|
<strong>Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.</strong>
|
|
Genomics 89: 521-531, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17289344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17289344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17289344[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=17289344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ygeno.2006.12.004" 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="Hanson2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E.
|
|
<strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong>
|
|
Am. J. Hum. Genet. 84: 801-806, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19481195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19481195</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19481195[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=19481195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.04.021" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Ishikawa1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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|
<strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
|
DNA Res. 5: 169-176, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" 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/5.3.169" 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="Keskin2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Keskin, M., Sahin, N. M., Kurnaz, E., Bayramoglu, E., Erdeve, S. S., Aycan, Z., Cetinkaya, S.
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<strong>A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene.</strong>
|
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J. Clin. Res. Pediat. Endocr. 9: 91-94, 2017. Note: Erratum: J. Clin. Res. Pediat. Endocr. 11: 109 only, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27796265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27796265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27796265" 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/10.4274/jcrpe.3238" 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="Keskin2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Keskin, M.
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<strong>Personal Communication.</strong>
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Ankara, Turkey 01/29/2019.
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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="Temtamy2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Temtamy, S. A., Aglan, M. S., Ashour, A. M., Ramzy, M. I., Hosny, L. A., Mostafa, M. I.
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<strong>3-M syndrome: a report of three Egyptian cases with review of the literature.</strong>
|
|
Clin. Dysmorph. 15: 55-64, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16531729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16531729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16531729" 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/10.1097/01.mcd.0000198926.01706.33" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 01/30/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/28/2019<br>Cassandra L. Kniffin - updated : 7/23/2009
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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 : 4/30/2007
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</span>
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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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alopez : 04/08/2019
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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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alopez : 01/30/2019<br>carol : 01/29/2019<br>alopez : 01/28/2019<br>carol : 05/18/2015<br>mcolton : 5/15/2015<br>carol : 9/20/2013<br>wwang : 8/4/2009<br>ckniffin : 7/23/2009<br>alopez : 4/30/2007<br>alopez : 4/30/2007<br>alopez : 4/30/2007
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610991
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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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OBSCURIN-LIKE 1; OBSL1
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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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<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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KIAA0657
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: OBSL1</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q35
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:219,547,206-219,571,539 </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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<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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2q35
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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3-M syndrome 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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612921
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, Ishikawa et al. (1998) obtained a partial OBSL1 clone, which they designated KIAA0657. RT-PCR detected high expression in heart and ovary, moderate expression in brain, skeletal muscle, and testis, and low expression in all other tissues examined. </p><p>By searching protein and nucleotide databases for sequences similar to the N-terminal fibronectin domain of obscurin (608616), followed by PCR and 5-prime RACE of a heart cDNA library, Geisler et al. (2007) obtained full-length OBSL1 and several alternatively spliced products. The variants could be arranged in 3 main groups, A, B, or C, depending upon which of 3 alternative translation stop codons was used. The encoded proteins ranged in predicted molecular mass from 130 to 230 kD. The longest transcript, OBSL1-A, encodes a protein with 4 tandem N-terminal immunoglobulin (Ig)-like domains, a central fibronectin domain, and 13 C-terminal Ig domains. The shorter splice variants encode proteins with fewer C-terminal Ig domains, and the shortest, OBSL1-B, contains only 3 C-terminal Ig domains. Northern blot analysis detected a 6-kb transcript (OBSL1-A) highly expressed in heart and more weakly in skeletal muscle and testis. A 3.3-kb transcript (OBSL1-B) was detected in most tissues, with highest expression in heart and placenta. Other variants ranging from about 4.9 to 5.8 kb were detected in several noncardiac tissues. Western blot analysis of adult human and rat heart lysates detected predominant expression of OBSL1-A at an apparent molecular mass of about 230 kD. Several other bands were more predominant in human heart lysates than in those from rat. Immunohistochemical analysis of isolated rat cardiac myocytes localized Obsl1 to the intercalated disc, to the perinuclear region, and overlying the Z lines and, to a lesser extent, the M bands. Accumulation of Obsl1 was noted between adjacent but not yet fused myofibrils. In these areas, Obsl1 was arranged in a linear or dotted pattern with accumulation overlying the Z lines. In cultured rat cardiac myocytes, the localization of Obsl1 was dynamic. The intracellular protein distribution of OBSL1 and its domain organization led Geisler et al. (2007) to propose that OBSL1 is a cytoskeletal adaptor. </p><p>Hanson et al. (2009) stated that the A, B, and C isoforms of OBSL1 contain 1,896, 1,401, and 1.025 amino acids, respectively. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Geisler et al. (2007) determined that the OBSL1 gene contains 22 exons and spans about 25 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Ishikawa et al. (1998) mapped the OBSL1 gene to chromosome 2. Geisler et al. (2007) stated that the OBSL1 gene maps to chromosome 2q35. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected individuals from 10 unrelated families with 3M syndrome-2 (3M2; 612921), Hanson et al. (2009) identified homozygous or compound heterozygous mutations in the OBSL1 gene (see, e.g., 610991.0001-610991.0005). All of the mutations were truncating mutations within the first 6 exons of the gene and affected all known isoforms, resulting in complete loss of OBSL1. Thus, 3M syndrome-2 represents the null phenotype of human OBSL1. All patients had short stature, prominent heels, and a distinctive facial appearance with anteverted nares, fleshy tipped nose, frontal bossing, midface hypoplasia, and prominent heels, and were phenotypically indistinguishable from those with 3M syndrome-1 (3M1; 273750) which is due to mutations in the CUL7 gene (609577). Knockdown of OBSL1 via siRNAs in HEK cells led to a decrease in CUL7 levels, suggesting a role for OBSL1 in the maintenance of normal levels of CUL7. These findings suggested that the 2 proteins work in the same pathway that affects cell proliferation and human growth. </p><p>In a 16.5-year-old Turkish boy with 3M syndrome, Demir et al. (2013) identified homozygosity for a frameshift mutation in the OBSL1 gene (610991.0006). </p><p>In a 16-month-old Turkish girl with 3M syndrome, Keskin et al. (2017) identified homozygosity for the most prevalent mutation in the OBSL1 gene, a 1-bp duplication (610991.0001). </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>6 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 THREE M SYNDROME 2</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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OBSL1, 1-BP INS, 1273A
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<br />
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SNP: rs762334954,
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gnomAD: rs762334954,
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ClinVar: RCV000175869, RCV000790703, RCV001260919, RCV001293716
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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 affected members of 4 unrelated families of Asian origin with 3M syndrome-2 (3M2; 612921), Hanson et al. (2009) identified a homozygous 1-bp insertion (1273insA) in exon 3 of the OBSL1 gene, causing a frameshift predicted to result in a premature termination codon (Thr425AsnfsTer40). The mutation occurred near the N terminus and affected all OBSL1 isoforms, consistent with complete loss of protein function and a null phenotype. Two of the families were large consanguineous families with multiple affected individuals. Two additional probands with the disorder were compound heterozygous for the 1273insA mutation and another truncating mutation in the OBSL1 gene: a 1149C-A transversion in exon 3, resulting in a cys383-to-ter substitution (C383X; 610991.0002), and a 10-bp deletion in exon 3 (610991.0003), respectively. </p><p>In a 16-month-old Turkish girl with 3M syndrome, Keskin et al. (2017) identified homozygosity for this mutation, which they designated c.1273dupA, in the OBSL1 gene. Her unaffected consanguineous parents were heterozygous for the mutation. Although Keskin et al. (2017) referred to the effect on the protein in their patient as Thr45AsnfsTer40, and in previously reported patients as Thr245fsTer40, they stated in a personal communication (Keskin, 2019) that Thr425AsnfsTer40 is the correct designation. </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 THREE M SYNDROME 2</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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OBSL1, CYS383TER
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<br />
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SNP: rs121918215,
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ClinVar: RCV000001101, RCV001851526
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the cys383-to-ter (C383X) mutation in the OBSL1 gene that was found in compound heterozygous state in a patient with 3M syndrome-2 (3M2; 612921) by Hanson et al. (2009), see 610991.0001. </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>.0003 THREE M SYNDROME 2</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
OBSL1, 10-BP DEL, NT1256
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|
<br />
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|
|
SNP: rs1335171880,
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|
|
|
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ClinVar: RCV000001102
|
|
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</span>
|
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</div>
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 10-bp deletion in the OBSL1 gene that was found in compound heterozygous state in a patient with 3M syndrome-2 (3M2; 612921) by Hanson et al. (2009), see 610991.0001. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 THREE M SYNDROME 2</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
OBSL1, 1-BP INS, 690C
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs1553538488,
|
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|
|
|
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|
|
ClinVar: RCV000001103, RCV000626927
|
|
|
|
|
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</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with 3M syndrome-2 (3M2; 612921), Hanson et al. (2009) identified a homozygous 1-bp insertion (690insC) in exon 2 of the OBSL1 gene, resulting in a frameshift and premature termination. The mutation affected all OBSL1 isoforms. </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>.0005 THREE M SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
OBSL1, ARG489TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918216,
|
|
|
|
|
|
gnomAD: rs121918216,
|
|
|
|
|
|
ClinVar: RCV000001104
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Egyptian brothers with 3M syndrome-2 (3M2; 612921), originally reported by Temtamy et al. (2006), Hanson et al. (2009) identified a homozygous 1463C-T transition in exon 4 of the OBSL1 gene, resulting in an arg489-to-ter (R489X) substitution. The mutation affected all OBSL1 isoforms. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 THREE M SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OBSL1, DEL/INS, 457T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1559160379,
|
|
|
|
|
|
|
|
ClinVar: RCV000754639
|
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|
|
|
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</span>
|
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</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16.5-year-old Turkish boy with 3M syndrome (3M2; 612921), Demir et al. (2013) identified homozygosity for a deletion-insertion mutation (c.457_458delinsT) in exon 2 of the OBSL1 gene, causing a frameshift resulting in gly153fs. His unaffected first-cousin parents were heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Demir, K., Altincik, A., Bober, E.
|
|
<strong>Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.</strong>
|
|
J. Pediat. Endocr. Metab. 26: 147-150, 2013.
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|
[PubMed: 23457316]
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[Full Text: https://doi.org/10.1515/jpem-2012-0239]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Geisler, S. B., Robinson, D., Hauringa, M., Raeker, M. O., Borisov, A. B., Westfall, M. V., Russell, M. W.
|
|
<strong>Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.</strong>
|
|
Genomics 89: 521-531, 2007.
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|
|
[PubMed: 17289344]
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[Full Text: https://doi.org/10.1016/j.ygeno.2006.12.004]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M., Clayton, P. E.
|
|
<strong>The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.</strong>
|
|
Am. J. Hum. Genet. 84: 801-806, 2009.
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[PubMed: 19481195]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.04.021]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
|
DNA Res. 5: 169-176, 1998.
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[PubMed: 9734811]
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[Full Text: https://doi.org/10.1093/dnares/5.3.169]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Keskin, M., Sahin, N. M., Kurnaz, E., Bayramoglu, E., Erdeve, S. S., Aycan, Z., Cetinkaya, S.
|
|
<strong>A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene.</strong>
|
|
J. Clin. Res. Pediat. Endocr. 9: 91-94, 2017. Note: Erratum: J. Clin. Res. Pediat. Endocr. 11: 109 only, 2019.
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|
[PubMed: 27796265]
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[Full Text: https://doi.org/10.4274/jcrpe.3238]
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</p>
|
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</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Keskin, M.
|
|
<strong>Personal Communication.</strong>
|
|
Ankara, Turkey 01/29/2019.
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|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Temtamy, S. A., Aglan, M. S., Ashour, A. M., Ramzy, M. I., Hosny, L. A., Mostafa, M. I.
|
|
<strong>3-M syndrome: a report of three Egyptian cases with review of the literature.</strong>
|
|
Clin. Dysmorph. 15: 55-64, 2006.
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|
|
[PubMed: 16531729]
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|
|
[Full Text: https://doi.org/10.1097/01.mcd.0000198926.01706.33]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Anne M. Stumpf - updated : 01/30/2019<br>Marla J. F. O'Neill - updated : 01/28/2019<br>Cassandra L. Kniffin - updated : 7/23/2009
|
|
</span>
|
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