4698 lines
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Entry
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- *607343 - SAL-LIKE 4; SALL4
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607343</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607343">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li 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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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000101115;t=ENST00000217086" 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=57167" 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=607343" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000101115;t=ENST00000217086" 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_001318031,NM_020436,XM_047440318" 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_020436" 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=607343" 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=08458&isoform_id=08458_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/SALL4" 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/10047144,24212387,37727661,37727663,37728072,84627434,119596001,119596002,972775858,2217335675,2462580984" 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/Q9UJQ4" 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=57167" 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=ENSG00000101115;t=ENST00000217086" 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=SALL4" 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=SALL4" 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+57167" 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/SALL4" 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:57167" 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/57167" 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=chr20&hgg_gene=ENST00000217086.9&hgg_start=51782331&hgg_end=51802521&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15924" 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/sall4" 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=607343[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607343[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/SALL4/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/ENSG00000101115" 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=SALL4" 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=SALL4" 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=SALL4" 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=SALL4&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/PA34936" 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:15924" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000287.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2139360" 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/SALL4#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:2139360" 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/57167/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=57167" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004773;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060328-2" 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=SALL4&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 699867001, 722019000<br />
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">ICD+</a>
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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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607343
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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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SAL-LIKE 4; SALL4
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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>
|
|
<span class="mim-font">
|
|
HSAL4
|
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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=SALL4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SALL4</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>
|
|
Cytogenetic location: <a href="/geneMap/20/395?start=-3&limit=10&highlight=395">20q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:51782331-51802521&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'})">20:51,782,331-51,802,521</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=147750,607323" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
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</span>
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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>
|
|
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>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/395?start=-3&limit=10&highlight=395">
|
|
20q13.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
?IVIC syndrome
|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/147750"> 147750 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Duane-radial ray syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/607323"> 607323 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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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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<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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<p>Sal-like genes encode putative zinc finger transcription factors. For background information on SALL genes, see SALL1 (<a href="/entry/602218">602218</a>).</p>
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<p><a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> determined that the SALL4 gene encodes a protein with 3 C2H2 double zinc finger domains of the SAL-type, the second of which has a single C2H2 zinc finger attached at its C-terminal end, as well as an N-terminal C2HC zinc finger motif typical for vertebrate SAL-like proteins. By Northern blot analysis, they detected expression of a 5.5-kb SALL4 transcript exclusively in adult testis. RT-PCR confirmed expression in adult testis and revealed faint SALL4 expression in ovary and spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Liebers, M., Archangelo, L. F., Reardon, W., Kispert, A. <strong>Cloning and expression analysis of Sall4, the murine homologue of the gene mutated in Okihiro syndrome.</strong> Cytogenet. Genome Res. 98: 274-277, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12826753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12826753</a>] [<a href="https://doi.org/10.1159/000071048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12826753">Kohlhase et al. (2002)</a> cloned mouse Sall4. Northern blot analysis of adult mouse tissues detected a 5.0- to 5.5-kb transcript only in testis and ovary. In situ hybridization revealed widespread Sall4 expression in early mouse embryos. Expression was gradually confined to the head region and the primitive streak, and later there was prominent expression in the developing midbrain, branchial arches, limbs, and genital papilla. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12826753" 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>Based on the identified mutations in the SALL4 gene that result in the Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#1" class="mim-tip-reference" title="Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C. <strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong> Am. J. Hum. Genet. 71: 1195-1199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12395297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12395297</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12395297[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/343821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12395297">Al-Baradie et al. (2002)</a> suggested that the gene likely plays a critical role in abducens motoneuron development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12395297" 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>SALL4 is an oncofetal protein that is expressed in human fetal liver and silenced in the adult liver, but is reexpressed in a subgroup of patients that have hepatocellular carcinoma with unfavorable prognosis. <a href="#26" class="mim-tip-reference" title="Yong, K. J., Gao, C., Lim, J. S. J., Yan, B., Yang, H., Dimitrov, T., Kawasaki, A., Ong, C. W., Wong, K.-F., Lee, S., Ravikumar, S., Srivastava, S., Tian, X., Poon, R. T., Fan, S. T., Luk, J. M., Dan, Y. Y., Salto-Tellez, M., Chai, L., Tenen, D. G. <strong>Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.</strong> New Eng. J. Med. 368: 2266-2276, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23758232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23758232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23758232[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/10.1056/NEJMoa1300297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23758232">Yong et al. (2013)</a> screened specimens obtained from 179 patients with hepatocellular carcinoma (<a href="/entry/114550">114550</a>) from Singapore for the expression of SALL4. Gene expression analysis showed the enrichment of progenitor-like gene signatures with overexpression of proliferative and metastatic genes in SALL4-positive hepatocellular carcinomas. <a href="#26" class="mim-tip-reference" title="Yong, K. J., Gao, C., Lim, J. S. J., Yan, B., Yang, H., Dimitrov, T., Kawasaki, A., Ong, C. W., Wong, K.-F., Lee, S., Ravikumar, S., Srivastava, S., Tian, X., Poon, R. T., Fan, S. T., Luk, J. M., Dan, Y. Y., Salto-Tellez, M., Chai, L., Tenen, D. G. <strong>Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.</strong> New Eng. J. Med. 368: 2266-2276, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23758232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23758232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23758232[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/10.1056/NEJMoa1300297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23758232">Yong et al. (2013)</a> found that in a multivariate Cox regression model, SALL4 is an independent prognostic factor for overall survival (hazard ratio for death, 2.87; 95% CI, 1.09 to 7.52; p = 0.03) in the Singapore cohort and an independent predictor of both overall survival (hazard ratio for death, 1.52; 95% CI, 1.00-2.32; p = 0.05) and early recurrence (hazard ratio, 1.67; 95% CI, 1.11-2.51; p = 0.01) in the Hong Kong cohort. Loss-of-function studies confirmed the critical role of SALL4 in cell survival and tumorigenicity. Blocking SALL4-corepressor interactions released suppression of PTEN (<a href="/entry/601728">601728</a>) and inhibited tumor formation in xenograft models in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23758232" 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>To help avoid additional risks associated with tumor biopsy in patients with SALL4-negative tumors, <a href="#9" class="mim-tip-reference" title="Hopkins, L. J., Rowe, I. A. C., Houlihan, D. D. <strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong> New Eng. J. Med. 369: 1170 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047069</a>] [<a href="https://doi.org/10.1056/NEJMc1308785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24047069">Hopkins et al. (2013)</a> requested that <a href="#26" class="mim-tip-reference" title="Yong, K. J., Gao, C., Lim, J. S. J., Yan, B., Yang, H., Dimitrov, T., Kawasaki, A., Ong, C. W., Wong, K.-F., Lee, S., Ravikumar, S., Srivastava, S., Tian, X., Poon, R. T., Fan, S. T., Luk, J. M., Dan, Y. Y., Salto-Tellez, M., Chai, L., Tenen, D. G. <strong>Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.</strong> New Eng. J. Med. 368: 2266-2276, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23758232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23758232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23758232[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/10.1056/NEJMoa1300297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23758232">Yong et al. (2013)</a> determine the sensitivity and specificity of the serum alpha-fetoprotein level in predicting the SALL4 status of their hepatocellular carcinoma patients. <a href="#25" class="mim-tip-reference" title="Yong, K. J., Chai, L., Tenen, D. G. <strong>Reply to comments on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong> New Eng. J. Med. 369: 1172-1173, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047073</a>] [<a href="https://doi.org/10.1056/NEJMc1309091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24047073">Yong et al. (2013)</a> replied that in the Hong Kong cohort of patients with hepatocellular carcinoma they observed a significant correlation between SALL4 mRNA expression and the serum alpha-fetoprotein level (p less than 0.001). The sensitivity and specificity of serum alpha-fetoprotein levels in predicting SALL4 expression in this cohort of 228 patients were calculated to be 66.7% and 68.4%, respectively. The data suggested that with a cutoff value of 100 ng per milliliter, a serum alpha-fetoprotein level of 100 ng per milliliter or more can identify 66.7% of patients with SALL4 mRNA expression. However, 31.6% of patients without SALL4 expression would be falsely identified as being positive for SALL4 expression. <a href="#25" class="mim-tip-reference" title="Yong, K. J., Chai, L., Tenen, D. G. <strong>Reply to comments on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong> New Eng. J. Med. 369: 1172-1173, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047073</a>] [<a href="https://doi.org/10.1056/NEJMc1309091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24047073">Yong et al. (2013)</a> suggested that, to assess SALL4 expression without the need for patient biopsy specimens, a noninvasive assay to test serum SALL4 expression be developed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24047069+24047073+23758232" 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="#23" class="mim-tip-reference" title="Suzuki, E., Chiba, T., Yokosuka, O. <strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong> New Eng. J. Med. 369: 1170-1171, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047070</a>] [<a href="https://doi.org/10.1056/NEJMc1308785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24047070">Suzuki et al. (2013)</a> asked of <a href="#26" class="mim-tip-reference" title="Yong, K. J., Gao, C., Lim, J. S. J., Yan, B., Yang, H., Dimitrov, T., Kawasaki, A., Ong, C. W., Wong, K.-F., Lee, S., Ravikumar, S., Srivastava, S., Tian, X., Poon, R. T., Fan, S. T., Luk, J. M., Dan, Y. Y., Salto-Tellez, M., Chai, L., Tenen, D. G. <strong>Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.</strong> New Eng. J. Med. 368: 2266-2276, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23758232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23758232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23758232[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/10.1056/NEJMoa1300297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23758232">Yong et al. (2013)</a> whether the unfavorable clinical outcome in high-SALL4 hepatocellular carcinoma is attributable to features of cholangiocarcinoma. <a href="#17" class="mim-tip-reference" title="Masuda, S., Suzuki, K., Izpisua Belmonte, J. C. <strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong> New Eng. J. Med. 369: 1171 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047071</a>] [<a href="https://doi.org/10.1056/NEJMc1308785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24047071">Masuda et al. (2013)</a> inquired whether reprogramming factors such as KLF5 or TBX3 could be involved in the pathogenesis of SALL4-related hepatocellular carcinoma, and if reexpression of SALL4 through hepatitis B infection has a role in upregulation of SALL4. <a href="#25" class="mim-tip-reference" title="Yong, K. J., Chai, L., Tenen, D. G. <strong>Reply to comments on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong> New Eng. J. Med. 369: 1172-1173, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047073</a>] [<a href="https://doi.org/10.1056/NEJMc1309091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24047073">Yong et al. (2013)</a> replied that more studies would be necessary to address these queries. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24047070+24047071+24047073+23758232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The SALL4 gene contains 4 exons (<a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al., 2002</a>; <a href="#1" class="mim-tip-reference" title="Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C. <strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong> Am. J. Hum. Genet. 71: 1195-1199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12395297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12395297</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12395297[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/343821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12395297">Al-Baradie et al., 2002</a>). <a href="#11" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Liebers, M., Archangelo, L. F., Reardon, W., Kispert, A. <strong>Cloning and expression analysis of Sall4, the murine homologue of the gene mutated in Okihiro syndrome.</strong> Cytogenet. Genome Res. 98: 274-277, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12826753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12826753</a>] [<a href="https://doi.org/10.1159/000071048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12826753">Kohlhase et al. (2002)</a> determined that the mouse Sall4 gene contains 4 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12395297+12393809+12826753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> noted that SALL4 had been localized to chromosome 20q13.13-q13.2 by <a href="#8" class="mim-tip-reference" title="Deloukas, P., Matthews, L. H., Ashurst, J., Burton, J., Gilbert, J. G. R., Jones, M., Stavrides, G., Almeida, J. P., Babbage, A. K., Bagguley, C. L., Bailey, J., Barlow, K. F., and 115 others. <strong>The DNA sequence and comparative analysis of human chromosome 20.</strong> Nature 414: 865-871, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780052</a>] [<a href="https://doi.org/10.1038/414865a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780052">Deloukas et al. (2001)</a>. <a href="#11" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Liebers, M., Archangelo, L. F., Reardon, W., Kispert, A. <strong>Cloning and expression analysis of Sall4, the murine homologue of the gene mutated in Okihiro syndrome.</strong> Cytogenet. Genome Res. 98: 274-277, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12826753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12826753</a>] [<a href="https://doi.org/10.1159/000071048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12826753">Kohlhase et al. (2002)</a> mapped the mouse Sall4 gene to chromosome 2H3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12393809+11780052+12826753" 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><strong><em>Duane-Radial Ray Syndrome</em></strong></p><p>
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Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>) is an autosomal dominant disorder characterized by forearm malformations and the Duane ocular anomaly. There is variable presentation within and among reported families, as well as overlap of clinical features with other conditions, most notably Holt-Oram syndrome (HOS; <a href="/entry/142900">142900</a>), a condition resulting from mutation of the TBX5 locus (<a href="/entry/601620">601620</a>), and Townes-Brocks syndrome (TBS; <a href="/entry/107480">107480</a>), known to be caused by mutation in SALL1. Due to phenotypic overlap between some DRRS patients and those with Townes-Brocks syndrome, <a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> postulated that DRRS may result from mutations in a member of the human SALL gene family. In affected members of 5 unrelated families with DRRS, <a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> identified 5 different heterozygous mutations in the SALL4 gene (see, e.g., <a href="#0001">607343.0001</a>-<a href="#0003">607343.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C. <strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong> Am. J. Hum. Genet. 71: 1195-1199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12395297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12395297</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12395297[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/343821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12395297">Al-Baradie et al. (2002)</a> ascertained 3 pedigrees with DRRS and mapped their disease gene to a region of chromosome 20 containing the SALL4 gene. Mutation analysis of SALL4 in these 3 pedigrees revealed 1 nonsense (<a href="#0005">607343.0005</a>) and 2 frameshift (<a href="#0004">607343.0004</a>; <a href="#0006">607343.0006</a>) heterozygous mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12395297" 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 studies of the molecular defect in the TBX5 gene in patients with HOS, <a href="#6" class="mim-tip-reference" title="Brassington, A.-M. E., Sung, S. S., Toydemir, R. M., Le, T., Roeder, A. D., Rutherford, A. E., Whitby, F. G., Jorde, L. B., Bamshad, M. J. <strong>Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.</strong> Am. J. Hum. Genet. 73: 74-85, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789647[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789647">Brassington et al. (2003)</a> found mutations in the SALL4 gene in 2 patients referred to them with the diagnosis of HOS. In 1 of the 2 cases, <a href="#3" class="mim-tip-reference" title="Bamshad, M. J. <strong>Personal Communication.</strong> Salt Lake City, Utah 6/26/2003."None>Bamshad (2003)</a> stated that the primary care physician reexamined the patient and noted the presence of ophthalmoplegia, making the diagnosis of Duane-radial ray syndrome. Furthermore, <a href="#3" class="mim-tip-reference" title="Bamshad, M. J. <strong>Personal Communication.</strong> Salt Lake City, Utah 6/26/2003."None>Bamshad (2003)</a> had not considered kidney defects typical of HOS and the affected mother of the patient who was later diagnosed with Duane-radial ray syndrome had pelvic kidneys. <a href="#14" class="mim-tip-reference" title="Kohlhase, J. <strong>Personal Communication.</strong> Goettingen, Germany 7/16/2003."None>Kohlhase (2003)</a> suggested that the SALL4 mutation in the second 'HOS' case of <a href="#6" class="mim-tip-reference" title="Brassington, A.-M. E., Sung, S. S., Toydemir, R. M., Le, T., Roeder, A. D., Rutherford, A. E., Whitby, F. G., Jorde, L. B., Bamshad, M. J. <strong>Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.</strong> Am. J. Hum. Genet. 73: 74-85, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12789647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12789647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12789647[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12789647">Brassington et al. (2003)</a> was actually a rare polymorphism, as it did not affect a functional domain, was not conserved between mouse and man, and the unaffected parent also carried the mutation. <a href="#14" class="mim-tip-reference" title="Kohlhase, J. <strong>Personal Communication.</strong> Goettingen, Germany 7/16/2003."None>Kohlhase (2003)</a> noted that Duane anomaly is not present in some cases of Duane-radial ray syndrome. Associated kidney anomalies, imperforate anus, ear and foot anomalies, and hearing loss all point to the diagnosis of Duane-radial ray syndrome. <a href="#14" class="mim-tip-reference" title="Kohlhase, J. <strong>Personal Communication.</strong> Goettingen, Germany 7/16/2003."None>Kohlhase (2003)</a> suggested that severe congenital heart defects, such as those observed in HOS, are not part of the Duane-radial ray syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12789647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., Reardon, W. <strong>Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.</strong> J. Med. Genet. 40: 473-478, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843316</a>] [<a href="https://doi.org/10.1136/jmg.40.7.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843316">Kohlhase et al. (2003)</a> analyzed the SALL4 gene in families with patients with DRRS. They identified a novel SALL4 mutation (<a href="#0007">607343.0007</a>) in 1 family in which the father was originally thought to have thalidomide embryopathy and had a daughter with a similar phenotype. They also found 2 novel mutations in 2 German families originally diagnosed with Holt-Oram syndrome and a further mutation in 1 of 2 families carrying the diagnosis of 'acrorenoocular syndrome,' which is the same entity as DRRS (<a href="#0008">607343.0008</a>-<a href="#0009">607343.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12843316" 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 6 families with Duane-radial ray syndrome in whom no point mutation in the SALL4 gene could be identified, <a href="#5" class="mim-tip-reference" title="Borozdin, W., Boehm, D., Leipoldt, M., Wilhelm, C., Reardon, W., Clayton-Smith, J., Becker, K., Muhlendyck, H., Winter, R., Giray, O., Silan, F., Kohlhase, J. <strong>SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.</strong> J. Med. Genet. 41: e113, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342710</a>] [<a href="https://doi.org/10.1136/jmg.2004.019901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342710">Borozdin et al. (2004)</a> performed segregation analysis of intragenic SNPs to detect loss of heterozygosity, consistent with an intragenic deletion of the gene. Using this method, heterozygous deletion of at least exon 2 of the SALL4 gene was suggested in 4 of the 6 families. Quantitative RT-PCR demonstrated that 2 families had deletion of all 4 exons (see <a href="#0010">607343.0010</a>), 2 had deletion of exons 1-3, 1 was heterozygous for a deletion of exon 4, and 1 had a deletion of 8.9 kb, including exon 1. One of the families had been reported by <a href="#16" class="mim-tip-reference" title="MacDermot, K. D., Winter, R. M. <strong>Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.</strong> Am. J. Med. Genet. 27: 313-319, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3605217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3605217</a>] [<a href="https://doi.org/10.1002/ajmg.1320270209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3605217">MacDermot and Winter (1987)</a>. These deletions occurred de novo in 2 sporadic cases, and segregated with the phenotype in the remaining families. <a href="#5" class="mim-tip-reference" title="Borozdin, W., Boehm, D., Leipoldt, M., Wilhelm, C., Reardon, W., Clayton-Smith, J., Becker, K., Muhlendyck, H., Winter, R., Giray, O., Silan, F., Kohlhase, J. <strong>SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.</strong> J. Med. Genet. 41: e113, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342710</a>] [<a href="https://doi.org/10.1136/jmg.2004.019901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342710">Borozdin et al. (2004)</a> concluded that, in contrast to the likely dominant-negative action of SALL1 mutations (<a href="/entry/602218">602218</a>) causing Townes-Brocks syndrome, Duane-radial ray syndrome is clearly the result of SALL4 haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3605217+15342710" 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="#10" class="mim-tip-reference" title="Kohlhase, J., Chitayat, D., Kotzot, D., Ceylaner, S., Froster, U. G., Fuchs, S., Montgomery, T., Rosler, B. <strong>SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.</strong> Hum. Mutat. 26: 176-183, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16086360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16086360</a>] [<a href="https://doi.org/10.1002/humu.20215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16086360">Kohlhase et al. (2005)</a> stated that 22 different SALL4 mutations had been described, all of which lead to preterminal stop codons and are likely to be disease-causing via haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16086360" 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="#19" class="mim-tip-reference" title="Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J. <strong>A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.</strong> Hum. Genet. 119: 154-161, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16402211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16402211</a>] [<a href="https://doi.org/10.1007/s00439-005-0124-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16402211">Miertus et al. (2006)</a> reported the first missense mutation in the SALL4 gene (H888R; <a href="#0012">607343.0012</a>) in a patient with a mild form of Duane-radial ray syndrome and cranial midline defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16402211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>IVIC Syndrome</em></strong></p><p>
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<a href="#21" class="mim-tip-reference" title="Paradisi, I., Arias, S. <strong>IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.</strong> Am. J. Med. Genet. 143A: 326-332, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17256792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17256792</a>] [<a href="https://doi.org/10.1002/ajmg.a.31603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17256792">Paradisi and Arias (2007)</a> identified a heterozygous mutation in the SALL4 gene (<a href="#0013">607343.0013</a>) in 14 affected members of a large Venezuelan family with the IVIC syndrome (IVIC; <a href="/entry/147750">147750</a>). Affected members showed wide phenotypic variability, similar to that seem in other SALL4-related disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17256792" 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>Human mutations in TBX5 (<a href="/entry/601620">601620</a>), a gene encoding a T-box transcription factor, and SALL4, a gene encoding a zinc finger transcription factor, cause similar upper limb and heart defects. Mutations in SALL4 are responsible for the Duane-radial ray syndrome (<a href="/entry/607323">607323</a>); mutations in TBX5 are responsible for the Holt-Oram syndrome (<a href="/entry/142900">142900</a>). <a href="#15" class="mim-tip-reference" title="Koshiba-Takeuchi, K., Takeuchi, J. K., Arruda, E. P., Kathiriya, I. S., Mo, R., Hui, C., Srivastava, D., Bruneau, B. G. <strong>Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.</strong> Nature Genet. 38: 175-183, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380715</a>] [<a href="https://doi.org/10.1038/ng1707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380715">Koshiba-Takeuchi et al. (2006)</a> showed that Tbx5 regulates Sall4 expression in the developing mouse forelimb and heart; mice heterozygous for a gene trap allele of Sall4 showed limb and heart defects that modeled human disease. Tbx5 and Sall4 interacted both positively and negatively to finely regulate patterning and morphogenesis of the anterior forelimb and heart. Thus, a positive and negative feed-forward circuit between Tbx5 and Sall4 ensures precise patterning of embryonic limb and heart and provides a unifying mechanism for heart/hand syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380715" 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">rs74315424 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315424;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=rs74315424" 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=rs74315424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#7" class="mim-tip-reference" title="Collins, A., Baraitser, M., Pembrey, M. <strong>Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.</strong> Clin. Dysmorph. 2: 237-240, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8287186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8287186</a>]" pmid="8287186">Collins et al. (1993)</a> described a 3-generation family with Duane anomaly and thenar hypoplasia, or Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>). In this family, <a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> demonstrated heterozygosity for a 1954C-T transition in the SALL4 gene in affected individuals, resulting in a gln652-to-ter (Q652X) mutation. The resultant protein was predicted to lack the third (carboxy-terminal) double zinc finger domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12393809+8287186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 3-generation family with Duane-ray radial syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> demonstrated heterozygosity for a 1053G deletion in the SALL4 gene in affected individuals. The mutation was predicted to result in a truncated protein lacking all 3 double zinc finger motifs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393809" 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">rs1601170799 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1601170799;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=rs1601170799" 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=rs1601170799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an individual with Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), anal stenosis, and deafness, <a href="#12" class="mim-tip-reference" title="Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W. <strong>Okihiro syndrome is caused by SALL4 mutations.</strong> Hum. Molec. Genet. 11: 2979-2987, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393809</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393809">Kohlhase et al. (2002)</a> demonstrated heterozygosity for a cytosine insertion between bases 940 and 941 in the SALL4 gene. The mutation was predicted to result in a truncated protein lacking all 3 double zinc finger motifs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family in which 8 individuals had Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#1" class="mim-tip-reference" title="Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C. <strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong> Am. J. Hum. Genet. 71: 1195-1199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12395297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12395297</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12395297[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/343821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12395297">Al-Baradie et al. (2002)</a> identified a heterozygous 1-bp deletion, 1904delT, predicted to result in a frameshift leading to a stop codon after 4 altered amino acids. Six of the affected individuals had bilateral or unilateral Duane syndrome type 1 (see <a href="/entry/126800">126800</a>); they showed marked or complete limitation of abduction with minimal or no limitation of adduction. The other 2 affected individuals had Duane syndrome type 3; they showed marked or complete limitation of both abduction and adduction. Seven had bilateral or unilateral thenar hypoplasia. A thumb defect was present in 6. Absent radial pulse, unilateral or bilateral, was noted in 5. Club wrist and short forearm were present in several, as well as shoulder dislocation. Only 1 of the 8 affected members had sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12395297" 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">rs74315425 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315425;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=rs74315425" 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=rs74315425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003486 OR RCV001553330" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003486, RCV001553330" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003486...</a>
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<p>In affected members of a family with Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>) originally reported by <a href="#20" class="mim-tip-reference" title="Okihiro, M. M., Tasaki, T., Nakano, K. K., Bennett, B. K. <strong>Duane syndrome and congenital upper-limb anomalies: a familial occurrence.</strong> Arch. Neurol. 34: 174-179, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/843249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">843249</a>] [<a href="https://doi.org/10.1001/archneur.1977.00500150060012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="843249">Okihiro et al. (1977)</a>, <a href="#1" class="mim-tip-reference" title="Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C. <strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong> Am. J. Hum. Genet. 71: 1195-1199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12395297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12395297</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12395297[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/343821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12395297">Al-Baradie et al. (2002)</a> found heterozygosity for a 2593C-T change in exon 3 of the SALL4 gene, resulting in an arg-to-ter (R865X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12395297+843249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., Reardon, W. <strong>Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.</strong> J. Med. Genet. 40: 473-478, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843316</a>] [<a href="https://doi.org/10.1136/jmg.40.7.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843316">Kohlhase et al. (2003)</a> identified the R865X mutation in affected members of family 1 reported by <a href="#4" class="mim-tip-reference" title="Becker, K., Beales, P. L., Calver, D. M., Matthijs, G., Mohammed, S. N. <strong>Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.</strong> J. Med. Genet. 39: 68-71, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11826030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11826030</a>] [<a href="https://doi.org/10.1136/jmg.39.1.68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11826030">Becker et al. (2002)</a> as having an overlapping phenotype of Okihiro and acrorenoocular syndromes. The proband had bilateral Duane anomaly, bilateral absent thumbs, absent radii, and shortened humeri. She also had slightly dysplastic optic discs and mild bilateral conductive hearing loss. Her affected mother had absent thumbs, shortened forearms, sensorineural hearing loss, and hypoplastic dystopic left kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12843316+11826030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 DUANE-RADIAL RAY SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1601168015 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1601168015;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=rs1601168015" 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=rs1601168015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003487" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003487" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003487</a>
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<p>In a family in which 3 members had Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#1" class="mim-tip-reference" title="Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C. <strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong> Am. J. Hum. Genet. 71: 1195-1199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12395297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12395297</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12395297[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/343821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12395297">Al-Baradie et al. (2002)</a> found heterozygosity for a 1-bp deletion, 2425delG, in exon 2 of the SALL4 gene. The deletion was predicted to result in a frameshift leading to a stop codon after 46 altered amino acids. Two of the affected individuals had Duane syndrome type 1 (see <a href="/entry/126800">126800</a>), and all 3 had bilateral thumb defects. One had sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12395297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 DUANE-RADIAL RAY SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1601171949 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1601171949;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=rs1601171949" 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=rs1601171949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003488</a>
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<p><a href="#18" class="mim-tip-reference" title="McBride, W. G., Read, A. P. <strong>Thalidomide may be a mutagen. (Letter)</strong> Brit. Med. J. 308: 1635-1636, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8025439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8025439</a>] [<a href="https://doi.org/10.1136/bmj.308.6944.1635b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8025439">McBride and Read (1994)</a> described a family in which thalidomide embryopathy was diagnosed in the father in childhood based on the nature of the abnormalities: bilateral thumb aplasia and hypoplastic radii in the presence of a history of possible exposure during pregnancy. His daughter was born with bilateral asymmetric radial ray defects consisting of absence of the thumb and first fingers, radial aplasia, and ulnar hypoplasia. <a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., Reardon, W. <strong>Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.</strong> J. Med. Genet. 40: 473-478, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843316</a>] [<a href="https://doi.org/10.1136/jmg.40.7.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843316">Kohlhase et al. (2003)</a> demonstrated a 1-bp deletion in exon 2 of the SALL4 cDNA, 326delC, in the father and daughter. Whereas the initial diagnosis was Holt-Oram syndrome (<a href="/entry/142900">142900</a>), on reexamination the finding of bilateral Duane anomaly caused revision of the diagnosis to Okihiro syndrome, also known as Duane-radial ray syndrome (<a href="/entry/607323">607323</a>). This family had been described by <a href="#18" class="mim-tip-reference" title="McBride, W. G., Read, A. P. <strong>Thalidomide may be a mutagen. (Letter)</strong> Brit. Med. J. 308: 1635-1636, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8025439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8025439</a>] [<a href="https://doi.org/10.1136/bmj.308.6944.1635b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8025439">McBride and Read (1994)</a> as a possible example of thalidomide mutagenicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12843316+8025439" 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">rs74315426 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315426;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=rs74315426" 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=rs74315426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003489" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003489" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003489</a>
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<p>In a patient with sporadic Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., Reardon, W. <strong>Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.</strong> J. Med. Genet. 40: 473-478, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843316</a>] [<a href="https://doi.org/10.1136/jmg.40.7.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843316">Kohlhase et al. (2003)</a> identified a heterozygous 523A-T transversion in exon 2 of the SALL4 gene, resulting in a lys175-to-ter (K175X) substitution. The patient had radial abnormalities, persistent foramen ovale, crossed dystopia of the kidneys, and bilateral Duane anomaly. He also had mild epicanthal folds and a broad, flat nasal bridge. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12843316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 DUANE-RADIAL RAY SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs74315427 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315427;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=rs74315427" 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=rs74315427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003490</a>
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<p>In a father and daughter with Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., Reardon, W. <strong>Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.</strong> J. Med. Genet. 40: 473-478, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843316</a>] [<a href="https://doi.org/10.1136/jmg.40.7.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843316">Kohlhase et al. (2003)</a> identified a heterozygous 1849C-T transition in exon 2 of the SALL4 gene, resulting in an arg617-to-ter (R617X) substitution. The daughter had bilateral thumb aplasia and radial club hands with shortened arms. She also had ventricular septal defect, hypertelorism with slight epicanthal folds, and flat feet with sandal gaps and broad, short first toes. She had no renal anomalies and no Duane anomaly. The father had less severe limb malformations, flat feet with sandal gaps, and horseshoe kidney. The initial diagnosis was Holt-Oram syndrome (<a href="/entry/142900">142900</a>), but the finding of Duane anomaly in the father confirmed Duane-radial ray syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12843316" 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=RCV000003491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003491</a>
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<p>In affected members of family 2 reported by <a href="#4" class="mim-tip-reference" title="Becker, K., Beales, P. L., Calver, D. M., Matthijs, G., Mohammed, S. N. <strong>Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.</strong> J. Med. Genet. 39: 68-71, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11826030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11826030</a>] [<a href="https://doi.org/10.1136/jmg.39.1.68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11826030">Becker et al. (2002)</a> as having an overlapping phenotype of Okihiro and acrorenoocular syndromes (DRRS; <a href="/entry/607323">607323</a>), <a href="#5" class="mim-tip-reference" title="Borozdin, W., Boehm, D., Leipoldt, M., Wilhelm, C., Reardon, W., Clayton-Smith, J., Becker, K., Muhlendyck, H., Winter, R., Giray, O., Silan, F., Kohlhase, J. <strong>SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.</strong> J. Med. Genet. 41: e113, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342710</a>] [<a href="https://doi.org/10.1136/jmg.2004.019901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342710">Borozdin et al. (2004)</a> identified a heterozygous deletion of at least 135 kb, including the entire SALL4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15342710+11826030" 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> rs74315428 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315428;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/rs74315428?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=rs74315428" 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=rs74315428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003492 OR RCV002464057" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003492, RCV002464057" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003492...</a>
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<p>In 6 affected members of a family with Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>), <a href="#24" class="mim-tip-reference" title="Terhal, P., Rosler, B., Kohlhase, J. <strong>A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.</strong> Am. J. Med. Genet. 140A: 222-226, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16411190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16411190</a>] [<a href="https://doi.org/10.1002/ajmg.a.31060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16411190">Terhal et al. (2006)</a> identified a heterozygous 2713C-T transition in the SALL4 gene, resulting in an arg905-to-ter (R905X) substitution. The truncated protein was predicted to lack the most C-terminal part of the protein including half of the second zinc finger within the most C-terminal double zinc finger domain. The mutant protein probably escapes nonsense-mediated mRNA decay and may retain some residual function. The phenotype in this family was highly variable; only 1 patient had the full syndrome, whereas other family members had only a subset of anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16411190" 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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SALL4, HIS888ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs74315429 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74315429;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=rs74315429" 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=rs74315429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003493" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003493" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003493</a>
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<p>In an Italian child with a mild form of Duane-radial ray syndrome (DRRS; <a href="/entry/607323">607323</a>) who was originally reported by <a href="#22" class="mim-tip-reference" title="Parentin, F., Perissutti, P. <strong>Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.</strong> Clin. Dysmorph. 12: 141-142, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12868480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12868480</a>] [<a href="https://doi.org/10.1097/00019605-200304000-00014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12868480">Parentin and Perissutti (2003)</a>, <a href="#19" class="mim-tip-reference" title="Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J. <strong>A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.</strong> Hum. Genet. 119: 154-161, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16402211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16402211</a>] [<a href="https://doi.org/10.1007/s00439-005-0124-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16402211">Miertus et al. (2006)</a> identified a heterozygous 2663A-G transition in exon 3 of the SALL4 gene, resulting in a his888-to-arg (H888R) substitution in a highly conserved region within the N-terminal ZF motif of the most C-terminal double ZF domain of the protein. The mutation was present in the affected father and maternal grandmother, but not in the unaffected mother or twin sister of the proband. The proband had mild features of Duane-radial ray syndrome as well as cranial midline defects, including facial dysmorphism, pituitary hypoplasia, and a single central incisor. Molecular modeling predicted that the H888R substitution does not result in loss of zinc binding but leads to increased DNA-binding affinity of the domain. <a href="#19" class="mim-tip-reference" title="Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J. <strong>A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.</strong> Hum. Genet. 119: 154-161, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16402211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16402211</a>] [<a href="https://doi.org/10.1007/s00439-005-0124-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16402211">Miertus et al. (2006)</a> noted that this was the first reported missense mutation in the SALL4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16402211+12868480" 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">rs1601166963 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1601166963;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=rs1601166963" 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=rs1601166963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003494" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003494" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003494</a>
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<p>In 14 affected members of a large Venezuelan family with IVIC syndrome (IVIC; <a href="/entry/147750">147750</a>), originally reported by <a href="#2" class="mim-tip-reference" title="Arias, S., Penchaszadeh, V. B., Pinto-Cisternas, J., Larrauri, S. <strong>The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.</strong> Am. J. Med. Genet. 6: 25-29, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7395922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7395922</a>] [<a href="https://doi.org/10.1002/ajmg.1320060105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7395922">Arias et al. (1980)</a>, <a href="#21" class="mim-tip-reference" title="Paradisi, I., Arias, S. <strong>IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.</strong> Am. J. Med. Genet. 143A: 326-332, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17256792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17256792</a>] [<a href="https://doi.org/10.1002/ajmg.a.31603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17256792">Paradisi and Arias (2007)</a> identified a heterozygous 1-bp deletion (2607delA) in exon 3 of the SALL4 gene, resulting in a truncated protein. The mutated mRNA was predicted to escape nonsense-mediated decay because of its location. There was wide intrafamilial phenotypic variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17256792+7395922" 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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Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C.
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<strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong>
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Am. J. Hum. Genet. 71: 1195-1199, 2002.
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Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J.
|
|
<strong>A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.</strong>
|
|
Hum. Genet. 119: 154-161, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16402211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16402211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16402211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-005-0124-7" 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="20" class="mim-anchor"></a>
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|
<a id="Okihiro1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okihiro, M. M., Tasaki, T., Nakano, K. K., Bennett, B. K.
|
|
<strong>Duane syndrome and congenital upper-limb anomalies: a familial occurrence.</strong>
|
|
Arch. Neurol. 34: 174-179, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/843249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">843249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=843249" 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/10.1001/archneur.1977.00500150060012" 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="21" class="mim-anchor"></a>
|
|
<a id="Paradisi2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Paradisi, I., Arias, S.
|
|
<strong>IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.</strong>
|
|
Am. J. Med. Genet. 143A: 326-332, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17256792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17256792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17256792" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31603" 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="22" class="mim-anchor"></a>
|
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<a id="Parentin2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Parentin, F., Perissutti, P.
|
|
<strong>Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.</strong>
|
|
Clin. Dysmorph. 12: 141-142, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12868480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12868480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12868480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1097/00019605-200304000-00014" 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="23" class="mim-anchor"></a>
|
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<a id="Suzuki2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suzuki, E., Chiba, T., Yokosuka, O.
|
|
<strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong>
|
|
New Eng. J. Med. 369: 1170-1171, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24047070" 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/10.1056/NEJMc1308785" 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="24" class="mim-anchor"></a>
|
|
<a id="Terhal2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Terhal, P., Rosler, B., Kohlhase, J.
|
|
<strong>A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.</strong>
|
|
Am. J. Med. Genet. 140A: 222-226, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16411190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16411190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16411190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31060" 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="25" class="mim-anchor"></a>
|
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<a id="Yong2013" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Yong, K. J., Chai, L., Tenen, D. G.
|
|
<strong>Reply to comments on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong>
|
|
New Eng. J. Med. 369: 1172-1173, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24047073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24047073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24047073" 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/10.1056/NEJMc1309091" 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="26" class="mim-anchor"></a>
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<a id="Yong2013" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Yong, K. J., Gao, C., Lim, J. S. J., Yan, B., Yang, H., Dimitrov, T., Kawasaki, A., Ong, C. W., Wong, K.-F., Lee, S., Ravikumar, S., Srivastava, S., Tian, X., Poon, R. T., Fan, S. T., Luk, J. M., Dan, Y. Y., Salto-Tellez, M., Chai, L., Tenen, D. G.
|
|
<strong>Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.</strong>
|
|
New Eng. J. Med. 368: 2266-2276, 2013.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23758232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23758232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23758232[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=23758232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1056/NEJMoa1300297" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="mim-text-font">
|
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 10/23/2013
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<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">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 7/1/2013<br>Cassandra L. Kniffin - updated : 3/26/2007<br>Cassandra L. Kniffin - updated : 5/16/2006<br>Cassandra L. Kniffin - updated : 2/9/2006<br>Victor A. McKusick - updated : 2/7/2006<br>Cassandra L. Kniffin - updated : 1/3/2006<br>Victor A. McKusick - updated : 12/27/2005<br>Cassandra L. Kniffin - updated : 7/6/2005<br>Victor A. McKusick - updated : 10/12/2004<br>Victor A. McKusick - updated : 1/9/2004<br>Patricia A. Hartz - updated : 9/4/2003<br>Victor A. McKusick - updated : 8/1/2003<br>Victor A. McKusick - updated : 12/23/2002
|
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</span>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
George E. Tiller : 11/13/2002
|
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</span>
|
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</div>
|
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</div>
|
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</div>
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<div>
|
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<a id="editHistory" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 06/10/2021
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 03/26/2020<br>carol : 10/19/2016<br>carol : 04/13/2016<br>alopez : 10/23/2013<br>alopez : 10/23/2013<br>alopez : 7/1/2013<br>wwang : 4/16/2009<br>wwang : 4/2/2007<br>ckniffin : 3/26/2007<br>wwang : 5/18/2006<br>ckniffin : 5/16/2006<br>wwang : 2/13/2006<br>ckniffin : 2/9/2006<br>terry : 2/7/2006<br>wwang : 1/9/2006<br>ckniffin : 1/3/2006<br>alopez : 12/28/2005<br>terry : 12/27/2005<br>terry : 12/20/2005<br>carol : 7/7/2005<br>ckniffin : 7/6/2005<br>tkritzer : 10/20/2004<br>terry : 10/12/2004<br>alopez : 1/14/2004<br>terry : 1/9/2004<br>mgross : 9/4/2003<br>carol : 8/1/2003<br>carol : 1/10/2003<br>carol : 1/10/2003<br>tkritzer : 1/8/2003<br>terry : 12/23/2002<br>cwells : 11/14/2002<br>cwells : 11/14/2002
|
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</span>
|
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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|
<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 607343
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SAL-LIKE 4; SALL4
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HSAL4
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
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</div>
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</div>
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SALL4</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
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|
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|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 699867001, 722019000;
|
|
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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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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 20q13.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 20:51,782,331-51,802,521 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
20q13.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?IVIC syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
147750
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Duane-radial ray syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607323
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</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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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sal-like genes encode putative zinc finger transcription factors. For background information on SALL genes, see SALL1 (602218).</p>
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</span>
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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>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Kohlhase et al. (2002) determined that the SALL4 gene encodes a protein with 3 C2H2 double zinc finger domains of the SAL-type, the second of which has a single C2H2 zinc finger attached at its C-terminal end, as well as an N-terminal C2HC zinc finger motif typical for vertebrate SAL-like proteins. By Northern blot analysis, they detected expression of a 5.5-kb SALL4 transcript exclusively in adult testis. RT-PCR confirmed expression in adult testis and revealed faint SALL4 expression in ovary and spleen. </p><p>Kohlhase et al. (2002) cloned mouse Sall4. Northern blot analysis of adult mouse tissues detected a 5.0- to 5.5-kb transcript only in testis and ovary. In situ hybridization revealed widespread Sall4 expression in early mouse embryos. Expression was gradually confined to the head region and the primitive streak, and later there was prominent expression in the developing midbrain, branchial arches, limbs, and genital papilla. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Based on the identified mutations in the SALL4 gene that result in the Duane-radial ray syndrome (DRRS; 607323), Al-Baradie et al. (2002) suggested that the gene likely plays a critical role in abducens motoneuron development. </p><p>SALL4 is an oncofetal protein that is expressed in human fetal liver and silenced in the adult liver, but is reexpressed in a subgroup of patients that have hepatocellular carcinoma with unfavorable prognosis. Yong et al. (2013) screened specimens obtained from 179 patients with hepatocellular carcinoma (114550) from Singapore for the expression of SALL4. Gene expression analysis showed the enrichment of progenitor-like gene signatures with overexpression of proliferative and metastatic genes in SALL4-positive hepatocellular carcinomas. Yong et al. (2013) found that in a multivariate Cox regression model, SALL4 is an independent prognostic factor for overall survival (hazard ratio for death, 2.87; 95% CI, 1.09 to 7.52; p = 0.03) in the Singapore cohort and an independent predictor of both overall survival (hazard ratio for death, 1.52; 95% CI, 1.00-2.32; p = 0.05) and early recurrence (hazard ratio, 1.67; 95% CI, 1.11-2.51; p = 0.01) in the Hong Kong cohort. Loss-of-function studies confirmed the critical role of SALL4 in cell survival and tumorigenicity. Blocking SALL4-corepressor interactions released suppression of PTEN (601728) and inhibited tumor formation in xenograft models in vivo. </p><p>To help avoid additional risks associated with tumor biopsy in patients with SALL4-negative tumors, Hopkins et al. (2013) requested that Yong et al. (2013) determine the sensitivity and specificity of the serum alpha-fetoprotein level in predicting the SALL4 status of their hepatocellular carcinoma patients. Yong et al. (2013) replied that in the Hong Kong cohort of patients with hepatocellular carcinoma they observed a significant correlation between SALL4 mRNA expression and the serum alpha-fetoprotein level (p less than 0.001). The sensitivity and specificity of serum alpha-fetoprotein levels in predicting SALL4 expression in this cohort of 228 patients were calculated to be 66.7% and 68.4%, respectively. The data suggested that with a cutoff value of 100 ng per milliliter, a serum alpha-fetoprotein level of 100 ng per milliliter or more can identify 66.7% of patients with SALL4 mRNA expression. However, 31.6% of patients without SALL4 expression would be falsely identified as being positive for SALL4 expression. Yong et al. (2013) suggested that, to assess SALL4 expression without the need for patient biopsy specimens, a noninvasive assay to test serum SALL4 expression be developed. </p><p>Suzuki et al. (2013) asked of Yong et al. (2013) whether the unfavorable clinical outcome in high-SALL4 hepatocellular carcinoma is attributable to features of cholangiocarcinoma. Masuda et al. (2013) inquired whether reprogramming factors such as KLF5 or TBX3 could be involved in the pathogenesis of SALL4-related hepatocellular carcinoma, and if reexpression of SALL4 through hepatitis B infection has a role in upregulation of SALL4. Yong et al. (2013) replied that more studies would be necessary to address these queries. </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>The SALL4 gene contains 4 exons (Kohlhase et al., 2002; Al-Baradie et al., 2002). Kohlhase et al. (2002) determined that the mouse Sall4 gene contains 4 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kohlhase et al. (2002) noted that SALL4 had been localized to chromosome 20q13.13-q13.2 by Deloukas et al. (2001). Kohlhase et al. (2002) mapped the mouse Sall4 gene to chromosome 2H3. </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><strong><em>Duane-Radial Ray Syndrome</em></strong></p><p>
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Duane-radial ray syndrome (DRRS; 607323) is an autosomal dominant disorder characterized by forearm malformations and the Duane ocular anomaly. There is variable presentation within and among reported families, as well as overlap of clinical features with other conditions, most notably Holt-Oram syndrome (HOS; 142900), a condition resulting from mutation of the TBX5 locus (601620), and Townes-Brocks syndrome (TBS; 107480), known to be caused by mutation in SALL1. Due to phenotypic overlap between some DRRS patients and those with Townes-Brocks syndrome, Kohlhase et al. (2002) postulated that DRRS may result from mutations in a member of the human SALL gene family. In affected members of 5 unrelated families with DRRS, Kohlhase et al. (2002) identified 5 different heterozygous mutations in the SALL4 gene (see, e.g., 607343.0001-607343.0003). </p><p>Al-Baradie et al. (2002) ascertained 3 pedigrees with DRRS and mapped their disease gene to a region of chromosome 20 containing the SALL4 gene. Mutation analysis of SALL4 in these 3 pedigrees revealed 1 nonsense (607343.0005) and 2 frameshift (607343.0004; 607343.0006) heterozygous mutations. </p><p>In studies of the molecular defect in the TBX5 gene in patients with HOS, Brassington et al. (2003) found mutations in the SALL4 gene in 2 patients referred to them with the diagnosis of HOS. In 1 of the 2 cases, Bamshad (2003) stated that the primary care physician reexamined the patient and noted the presence of ophthalmoplegia, making the diagnosis of Duane-radial ray syndrome. Furthermore, Bamshad (2003) had not considered kidney defects typical of HOS and the affected mother of the patient who was later diagnosed with Duane-radial ray syndrome had pelvic kidneys. Kohlhase (2003) suggested that the SALL4 mutation in the second 'HOS' case of Brassington et al. (2003) was actually a rare polymorphism, as it did not affect a functional domain, was not conserved between mouse and man, and the unaffected parent also carried the mutation. Kohlhase (2003) noted that Duane anomaly is not present in some cases of Duane-radial ray syndrome. Associated kidney anomalies, imperforate anus, ear and foot anomalies, and hearing loss all point to the diagnosis of Duane-radial ray syndrome. Kohlhase (2003) suggested that severe congenital heart defects, such as those observed in HOS, are not part of the Duane-radial ray syndrome. </p><p>Kohlhase et al. (2003) analyzed the SALL4 gene in families with patients with DRRS. They identified a novel SALL4 mutation (607343.0007) in 1 family in which the father was originally thought to have thalidomide embryopathy and had a daughter with a similar phenotype. They also found 2 novel mutations in 2 German families originally diagnosed with Holt-Oram syndrome and a further mutation in 1 of 2 families carrying the diagnosis of 'acrorenoocular syndrome,' which is the same entity as DRRS (607343.0008-607343.0009). </p><p>In 6 families with Duane-radial ray syndrome in whom no point mutation in the SALL4 gene could be identified, Borozdin et al. (2004) performed segregation analysis of intragenic SNPs to detect loss of heterozygosity, consistent with an intragenic deletion of the gene. Using this method, heterozygous deletion of at least exon 2 of the SALL4 gene was suggested in 4 of the 6 families. Quantitative RT-PCR demonstrated that 2 families had deletion of all 4 exons (see 607343.0010), 2 had deletion of exons 1-3, 1 was heterozygous for a deletion of exon 4, and 1 had a deletion of 8.9 kb, including exon 1. One of the families had been reported by MacDermot and Winter (1987). These deletions occurred de novo in 2 sporadic cases, and segregated with the phenotype in the remaining families. Borozdin et al. (2004) concluded that, in contrast to the likely dominant-negative action of SALL1 mutations (602218) causing Townes-Brocks syndrome, Duane-radial ray syndrome is clearly the result of SALL4 haploinsufficiency. </p><p>Kohlhase et al. (2005) stated that 22 different SALL4 mutations had been described, all of which lead to preterminal stop codons and are likely to be disease-causing via haploinsufficiency. </p><p>Miertus et al. (2006) reported the first missense mutation in the SALL4 gene (H888R; 607343.0012) in a patient with a mild form of Duane-radial ray syndrome and cranial midline defects. </p><p><strong><em>IVIC Syndrome</em></strong></p><p>
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Paradisi and Arias (2007) identified a heterozygous mutation in the SALL4 gene (607343.0013) in 14 affected members of a large Venezuelan family with the IVIC syndrome (IVIC; 147750). Affected members showed wide phenotypic variability, similar to that seem in other SALL4-related disorders. </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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Human mutations in TBX5 (601620), a gene encoding a T-box transcription factor, and SALL4, a gene encoding a zinc finger transcription factor, cause similar upper limb and heart defects. Mutations in SALL4 are responsible for the Duane-radial ray syndrome (607323); mutations in TBX5 are responsible for the Holt-Oram syndrome (142900). Koshiba-Takeuchi et al. (2006) showed that Tbx5 regulates Sall4 expression in the developing mouse forelimb and heart; mice heterozygous for a gene trap allele of Sall4 showed limb and heart defects that modeled human disease. Tbx5 and Sall4 interacted both positively and negatively to finely regulate patterning and morphogenesis of the anterior forelimb and heart. Thus, a positive and negative feed-forward circuit between Tbx5 and Sall4 ensures precise patterning of embryonic limb and heart and provides a unifying mechanism for heart/hand syndromes. </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>13 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 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, GLN652TER
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<br />
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SNP: rs74315424,
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ClinVar: RCV000003482
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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>Collins et al. (1993) described a 3-generation family with Duane anomaly and thenar hypoplasia, or Duane-radial ray syndrome (DRRS; 607323). In this family, Kohlhase et al. (2002) demonstrated heterozygosity for a 1954C-T transition in the SALL4 gene in affected individuals, resulting in a gln652-to-ter (Q652X) mutation. The resultant protein was predicted to lack the third (carboxy-terminal) double zinc finger domain. </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 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, 1-BP DEL, 1053G
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<br />
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SNP: rs1601170510,
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ClinVar: RCV000003483
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-generation family with Duane-ray radial syndrome (DRRS; 607323), Kohlhase et al. (2002) demonstrated heterozygosity for a 1053G deletion in the SALL4 gene in affected individuals. The mutation was predicted to result in a truncated protein lacking all 3 double zinc finger motifs. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, 1-BP INS, 940C
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<br />
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SNP: rs1601170799,
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ClinVar: RCV000003484
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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 an individual with Duane-radial ray syndrome (DRRS; 607323), anal stenosis, and deafness, Kohlhase et al. (2002) demonstrated heterozygosity for a cytosine insertion between bases 940 and 941 in the SALL4 gene. The mutation was predicted to result in a truncated protein lacking all 3 double zinc finger motifs. </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>.0004 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, 1-BP DEL, 1904T
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<br />
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SNP: rs1601168967,
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ClinVar: RCV000003485
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which 8 individuals had Duane-radial ray syndrome (DRRS; 607323), Al-Baradie et al. (2002) identified a heterozygous 1-bp deletion, 1904delT, predicted to result in a frameshift leading to a stop codon after 4 altered amino acids. Six of the affected individuals had bilateral or unilateral Duane syndrome type 1 (see 126800); they showed marked or complete limitation of abduction with minimal or no limitation of adduction. The other 2 affected individuals had Duane syndrome type 3; they showed marked or complete limitation of both abduction and adduction. Seven had bilateral or unilateral thenar hypoplasia. A thumb defect was present in 6. Absent radial pulse, unilateral or bilateral, was noted in 5. Club wrist and short forearm were present in several, as well as shoulder dislocation. Only 1 of the 8 affected members had sensorineural hearing loss. </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>.0005 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, ARG865TER
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<br />
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SNP: rs74315425,
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ClinVar: RCV000003486, RCV001553330
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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 a family with Duane-radial ray syndrome (DRRS; 607323) originally reported by Okihiro et al. (1977), Al-Baradie et al. (2002) found heterozygosity for a 2593C-T change in exon 3 of the SALL4 gene, resulting in an arg-to-ter (R865X) substitution. </p><p>Kohlhase et al. (2003) identified the R865X mutation in affected members of family 1 reported by Becker et al. (2002) as having an overlapping phenotype of Okihiro and acrorenoocular syndromes. The proband had bilateral Duane anomaly, bilateral absent thumbs, absent radii, and shortened humeri. She also had slightly dysplastic optic discs and mild bilateral conductive hearing loss. Her affected mother had absent thumbs, shortened forearms, sensorineural hearing loss, and hypoplastic dystopic left kidney. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, 1-BP DEL, 2425G
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<br />
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SNP: rs1601168015,
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ClinVar: RCV000003487
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a family in which 3 members had Duane-radial ray syndrome (DRRS; 607323), Al-Baradie et al. (2002) found heterozygosity for a 1-bp deletion, 2425delG, in exon 2 of the SALL4 gene. The deletion was predicted to result in a frameshift leading to a stop codon after 46 altered amino acids. Two of the affected individuals had Duane syndrome type 1 (see 126800), and all 3 had bilateral thumb defects. One had sensorineural hearing loss. </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>.0007 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, 1-BP DEL, 326C
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<br />
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SNP: rs1601171949,
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ClinVar: RCV000003488
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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>McBride and Read (1994) described a family in which thalidomide embryopathy was diagnosed in the father in childhood based on the nature of the abnormalities: bilateral thumb aplasia and hypoplastic radii in the presence of a history of possible exposure during pregnancy. His daughter was born with bilateral asymmetric radial ray defects consisting of absence of the thumb and first fingers, radial aplasia, and ulnar hypoplasia. Kohlhase et al. (2003) demonstrated a 1-bp deletion in exon 2 of the SALL4 cDNA, 326delC, in the father and daughter. Whereas the initial diagnosis was Holt-Oram syndrome (142900), on reexamination the finding of bilateral Duane anomaly caused revision of the diagnosis to Okihiro syndrome, also known as Duane-radial ray syndrome (607323). This family had been described by McBride and Read (1994) as a possible example of thalidomide mutagenicity. </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>.0008 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, LYS175TER
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<br />
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SNP: rs74315426,
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ClinVar: RCV000003489
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with sporadic Duane-radial ray syndrome (DRRS; 607323), Kohlhase et al. (2003) identified a heterozygous 523A-T transversion in exon 2 of the SALL4 gene, resulting in a lys175-to-ter (K175X) substitution. The patient had radial abnormalities, persistent foramen ovale, crossed dystopia of the kidneys, and bilateral Duane anomaly. He also had mild epicanthal folds and a broad, flat nasal bridge. </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>.0009 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, ARG617TER
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<br />
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SNP: rs74315427,
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ClinVar: RCV000003490
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a father and daughter with Duane-radial ray syndrome (DRRS; 607323), Kohlhase et al. (2003) identified a heterozygous 1849C-T transition in exon 2 of the SALL4 gene, resulting in an arg617-to-ter (R617X) substitution. The daughter had bilateral thumb aplasia and radial club hands with shortened arms. She also had ventricular septal defect, hypertelorism with slight epicanthal folds, and flat feet with sandal gaps and broad, short first toes. She had no renal anomalies and no Duane anomaly. The father had less severe limb malformations, flat feet with sandal gaps, and horseshoe kidney. The initial diagnosis was Holt-Oram syndrome (142900), but the finding of Duane anomaly in the father confirmed Duane-radial ray syndrome. </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>.0010 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, DEL
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<br />
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ClinVar: RCV000003491
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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 family 2 reported by Becker et al. (2002) as having an overlapping phenotype of Okihiro and acrorenoocular syndromes (DRRS; 607323), Borozdin et al. (2004) identified a heterozygous deletion of at least 135 kb, including the entire SALL4 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0011 DUANE-RADIAL RAY SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, ARG905TER
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<br />
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SNP: rs74315428,
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gnomAD: rs74315428,
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ClinVar: RCV000003492, RCV002464057
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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 6 affected members of a family with Duane-radial ray syndrome (DRRS; 607323), Terhal et al. (2006) identified a heterozygous 2713C-T transition in the SALL4 gene, resulting in an arg905-to-ter (R905X) substitution. The truncated protein was predicted to lack the most C-terminal part of the protein including half of the second zinc finger within the most C-terminal double zinc finger domain. The mutant protein probably escapes nonsense-mediated mRNA decay and may retain some residual function. The phenotype in this family was highly variable; only 1 patient had the full syndrome, whereas other family members had only a subset of anomalies. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0012 DUANE-RADIAL RAY SYNDROME</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, HIS888ARG
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<br />
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SNP: rs74315429,
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ClinVar: RCV000003493
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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 an Italian child with a mild form of Duane-radial ray syndrome (DRRS; 607323) who was originally reported by Parentin and Perissutti (2003), Miertus et al. (2006) identified a heterozygous 2663A-G transition in exon 3 of the SALL4 gene, resulting in a his888-to-arg (H888R) substitution in a highly conserved region within the N-terminal ZF motif of the most C-terminal double ZF domain of the protein. The mutation was present in the affected father and maternal grandmother, but not in the unaffected mother or twin sister of the proband. The proband had mild features of Duane-radial ray syndrome as well as cranial midline defects, including facial dysmorphism, pituitary hypoplasia, and a single central incisor. Molecular modeling predicted that the H888R substitution does not result in loss of zinc binding but leads to increased DNA-binding affinity of the domain. Miertus et al. (2006) noted that this was the first reported missense mutation in the SALL4 gene. </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>.0013 IVIC SYNDROME (1 family)</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SALL4, 1-BP DEL, 2607A
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<br />
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SNP: rs1601166963,
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|
|
ClinVar: RCV000003494
|
|
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</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 14 affected members of a large Venezuelan family with IVIC syndrome (IVIC; 147750), originally reported by Arias et al. (1980), Paradisi and Arias (2007) identified a heterozygous 1-bp deletion (2607delA) in exon 3 of the SALL4 gene, resulting in a truncated protein. The mutated mRNA was predicted to escape nonsense-mediated decay because of its location. There was wide intrafamilial phenotypic variability. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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|
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<div>
|
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<ol>
|
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<li>
|
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<p class="mim-text-font">
|
|
Al-Baradie, R., Yamada, K., St. Hilaire, C., Chan, W.-M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E. J., Raymond, W. R., Okumura, S., Okihiro, M. M., Engle, E. C.
|
|
<strong>Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.</strong>
|
|
Am. J. Hum. Genet. 71: 1195-1199, 2002.
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|
[PubMed: 12395297]
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[Full Text: https://doi.org/10.1086/343821]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Arias, S., Penchaszadeh, V. B., Pinto-Cisternas, J., Larrauri, S.
|
|
<strong>The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.</strong>
|
|
Am. J. Med. Genet. 6: 25-29, 1980.
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|
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[PubMed: 7395922]
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[Full Text: https://doi.org/10.1002/ajmg.1320060105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bamshad, M. J.
|
|
<strong>Personal Communication.</strong>
|
|
Salt Lake City, Utah 6/26/2003.
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|
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Becker, K., Beales, P. L., Calver, D. M., Matthijs, G., Mohammed, S. N.
|
|
<strong>Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.</strong>
|
|
J. Med. Genet. 39: 68-71, 2002.
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[PubMed: 11826030]
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[Full Text: https://doi.org/10.1136/jmg.39.1.68]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Borozdin, W., Boehm, D., Leipoldt, M., Wilhelm, C., Reardon, W., Clayton-Smith, J., Becker, K., Muhlendyck, H., Winter, R., Giray, O., Silan, F., Kohlhase, J.
|
|
<strong>SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.</strong>
|
|
J. Med. Genet. 41: e113, 2004. Note: Electronic Article.
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[PubMed: 15342710]
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[Full Text: https://doi.org/10.1136/jmg.2004.019901]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brassington, A.-M. E., Sung, S. S., Toydemir, R. M., Le, T., Roeder, A. D., Rutherford, A. E., Whitby, F. G., Jorde, L. B., Bamshad, M. J.
|
|
<strong>Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.</strong>
|
|
Am. J. Hum. Genet. 73: 74-85, 2003.
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[PubMed: 12789647]
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[Full Text: https://doi.org/10.1086/376436]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Collins, A., Baraitser, M., Pembrey, M.
|
|
<strong>Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.</strong>
|
|
Clin. Dysmorph. 2: 237-240, 1993.
|
|
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|
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[PubMed: 8287186]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Deloukas, P., Matthews, L. H., Ashurst, J., Burton, J., Gilbert, J. G. R., Jones, M., Stavrides, G., Almeida, J. P., Babbage, A. K., Bagguley, C. L., Bailey, J., Barlow, K. F., and 115 others.
|
|
<strong>The DNA sequence and comparative analysis of human chromosome 20.</strong>
|
|
Nature 414: 865-871, 2001.
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|
|
[PubMed: 11780052]
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|
[Full Text: https://doi.org/10.1038/414865a]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hopkins, L. J., Rowe, I. A. C., Houlihan, D. D.
|
|
<strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong>
|
|
New Eng. J. Med. 369: 1170 only, 2013.
|
|
|
|
|
|
[PubMed: 24047069]
|
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|
|
[Full Text: https://doi.org/10.1056/NEJMc1308785]
|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J., Chitayat, D., Kotzot, D., Ceylaner, S., Froster, U. G., Fuchs, S., Montgomery, T., Rosler, B.
|
|
<strong>SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.</strong>
|
|
Hum. Mutat. 26: 176-183, 2005.
|
|
|
|
|
|
[PubMed: 16086360]
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|
|
[Full Text: https://doi.org/10.1002/humu.20215]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J., Heinrich, M., Liebers, M., Archangelo, L. F., Reardon, W., Kispert, A.
|
|
<strong>Cloning and expression analysis of Sall4, the murine homologue of the gene mutated in Okihiro syndrome.</strong>
|
|
Cytogenet. Genome Res. 98: 274-277, 2002.
|
|
|
|
|
|
[PubMed: 12826753]
|
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|
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|
|
[Full Text: https://doi.org/10.1159/000071048]
|
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M., Reardon, W.
|
|
<strong>Okihiro syndrome is caused by SALL4 mutations.</strong>
|
|
Hum. Molec. Genet. 11: 2979-2987, 2002.
|
|
|
|
|
|
[PubMed: 12393809]
|
|
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|
|
[Full Text: https://doi.org/10.1093/hmg/11.23.2979]
|
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S. N., Newbury-Ecob, R., Reardon, W.
|
|
<strong>Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.</strong>
|
|
J. Med. Genet. 40: 473-478, 2003.
|
|
|
|
|
|
[PubMed: 12843316]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.40.7.473]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J.
|
|
<strong>Personal Communication.</strong>
|
|
Goettingen, Germany 7/16/2003.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koshiba-Takeuchi, K., Takeuchi, J. K., Arruda, E. P., Kathiriya, I. S., Mo, R., Hui, C., Srivastava, D., Bruneau, B. G.
|
|
<strong>Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.</strong>
|
|
Nature Genet. 38: 175-183, 2006.
|
|
|
|
|
|
[PubMed: 16380715]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1707]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
MacDermot, K. D., Winter, R. M.
|
|
<strong>Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.</strong>
|
|
Am. J. Med. Genet. 27: 313-319, 1987.
|
|
|
|
|
|
[PubMed: 3605217]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320270209]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Masuda, S., Suzuki, K., Izpisua Belmonte, J. C.
|
|
<strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong>
|
|
New Eng. J. Med. 369: 1171 only, 2013.
|
|
|
|
|
|
[PubMed: 24047071]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc1308785]
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|
|
</p>
|
|
</li>
|
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<li>
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<p class="mim-text-font">
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McBride, W. G., Read, A. P.
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<strong>Thalidomide may be a mutagen. (Letter)</strong>
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Brit. Med. J. 308: 1635-1636, 1994.
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[PubMed: 8025439]
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[Full Text: https://doi.org/10.1136/bmj.308.6944.1635b]
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Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J.
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<strong>A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.</strong>
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Hum. Genet. 119: 154-161, 2006.
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[PubMed: 16402211]
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[Full Text: https://doi.org/10.1007/s00439-005-0124-7]
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Okihiro, M. M., Tasaki, T., Nakano, K. K., Bennett, B. K.
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<strong>Duane syndrome and congenital upper-limb anomalies: a familial occurrence.</strong>
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Arch. Neurol. 34: 174-179, 1977.
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[PubMed: 843249]
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[Full Text: https://doi.org/10.1001/archneur.1977.00500150060012]
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Paradisi, I., Arias, S.
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<strong>IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.</strong>
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Am. J. Med. Genet. 143A: 326-332, 2007.
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[PubMed: 17256792]
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[Full Text: https://doi.org/10.1002/ajmg.a.31603]
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Parentin, F., Perissutti, P.
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<strong>Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.</strong>
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Clin. Dysmorph. 12: 141-142, 2003.
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[PubMed: 12868480]
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[Full Text: https://doi.org/10.1097/00019605-200304000-00014]
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Suzuki, E., Chiba, T., Yokosuka, O.
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<strong>Comment on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong>
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New Eng. J. Med. 369: 1170-1171, 2013.
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[PubMed: 24047070]
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[Full Text: https://doi.org/10.1056/NEJMc1308785]
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Terhal, P., Rosler, B., Kohlhase, J.
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<strong>A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.</strong>
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Am. J. Med. Genet. 140A: 222-226, 2006.
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[PubMed: 16411190]
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[Full Text: https://doi.org/10.1002/ajmg.a.31060]
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Yong, K. J., Chai, L., Tenen, D. G.
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<strong>Reply to comments on 'Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.' (Letter)</strong>
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New Eng. J. Med. 369: 1172-1173, 2013.
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[PubMed: 24047073]
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[Full Text: https://doi.org/10.1056/NEJMc1309091]
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Yong, K. J., Gao, C., Lim, J. S. J., Yan, B., Yang, H., Dimitrov, T., Kawasaki, A., Ong, C. W., Wong, K.-F., Lee, S., Ravikumar, S., Srivastava, S., Tian, X., Poon, R. T., Fan, S. T., Luk, J. M., Dan, Y. Y., Salto-Tellez, M., Chai, L., Tenen, D. G.
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<strong>Oncofetal gene SALL4 in aggressive hepatocellular carcinoma.</strong>
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New Eng. J. Med. 368: 2266-2276, 2013.
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[PubMed: 23758232]
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[Full Text: https://doi.org/10.1056/NEJMoa1300297]
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Ada Hamosh - updated : 10/23/2013<br>Ada Hamosh - updated : 7/1/2013<br>Cassandra L. Kniffin - updated : 3/26/2007<br>Cassandra L. Kniffin - updated : 5/16/2006<br>Cassandra L. Kniffin - updated : 2/9/2006<br>Victor A. McKusick - updated : 2/7/2006<br>Cassandra L. Kniffin - updated : 1/3/2006<br>Victor A. McKusick - updated : 12/27/2005<br>Cassandra L. Kniffin - updated : 7/6/2005<br>Victor A. McKusick - updated : 10/12/2004<br>Victor A. McKusick - updated : 1/9/2004<br>Patricia A. Hartz - updated : 9/4/2003<br>Victor A. McKusick - updated : 8/1/2003<br>Victor A. McKusick - updated : 12/23/2002
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