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Entry
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- *602218 - SAL-LIKE 1; SALL1
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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">*602218</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602218">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<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=ENSG00000103449;t=ENST00000251020" 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=6299" 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=602218" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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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</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=ENSG00000103449;t=ENST00000251020" 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_001127892,NM_002968,XM_047434442,XM_047434443,XM_047434444" 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_002968" 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=602218" 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=03742&isoform_id=03742_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/SALL1" 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/2827893,2827895,4688923,4688925,6625556,109731223,109731638,118442837,119603183,124297057,189217876,194379174,194739649,296452895,2217306911,2217306913,2217306915,2462550081,2462550083" 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/Q9NSC2" 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=6299" 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=ENSG00000103449;t=ENST00000251020" 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=SALL1" 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=SALL1" 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+6299" 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/SALL1" 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:6299" 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/6299" 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=chr16&hgg_gene=ENST00000251020.9&hgg_start=51135982&hgg_end=51152334&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:10524" 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/sall1" 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=602218[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=602218[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/SALL1/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/ENSG00000103449" 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=SALL1" 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=SALL1" 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=SALL1" 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=SALL1&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/PA34932" 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:10524" 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:1889585" 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/SALL1#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:1889585" 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/6299/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=6299" 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-020228-2" 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">
|
|
<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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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=SALL1&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> 24750000<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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602218
|
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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 1; SALL1
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HSAL1
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SALL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SALL1</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/16/431?start=-3&limit=10&highlight=431">16q12.1</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:51135982-51152334&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'})">16:51,135,982-51,152,334</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">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/431?start=-3&limit=10&highlight=431">
|
|
16q12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Townes-Brocks branchiootorenal-like syndrome
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/107480"> 107480 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
|
|
|
|
|
|
</tr>
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|
|
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|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Townes-Brocks syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/107480"> 107480 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
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</table>
|
|
</div>
|
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
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<p>The region-specific homeotic gene spalt (sal) of Drosophila is an essential genetic component required for the specification of posterior head and anterior tail as opposed to trunk segments. Sal encodes a protein that contains 3 distinct DNA-binding zinc finger domains and alanine- and glutamine-rich domains that are commonly found in transcription factors (<a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schuh, R., Dowe, G., Kuhnlein, R. P., Jackle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Kohler, A., Muller, U., Raab-Vetter, M., Burkhardt, E., Engel, W., Stick, R. <strong>Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.</strong> Genomics 38: 291-298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975705</a>] [<a href="https://doi.org/10.1006/geno.1996.0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975705">Kohlhase et al., 1996</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975705" 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="#13" class="mim-tip-reference" title="Kohlhase, J., Schuh, R., Dowe, G., Kuhnlein, R. P., Jackle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Kohler, A., Muller, U., Raab-Vetter, M., Burkhardt, E., Engel, W., Stick, R. <strong>Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.</strong> Genomics 38: 291-298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975705</a>] [<a href="https://doi.org/10.1006/geno.1996.0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975705">Kohlhase et al. (1996)</a> used the unusual but characteristic structure of sal to isolate sal-like genes from humans. The SALL1 gene encodes a putative protein of 1,306 amino acids. <a href="#13" class="mim-tip-reference" title="Kohlhase, J., Schuh, R., Dowe, G., Kuhnlein, R. P., Jackle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Kohler, A., Muller, U., Raab-Vetter, M., Burkhardt, E., Engel, W., Stick, R. <strong>Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.</strong> Genomics 38: 291-298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975705</a>] [<a href="https://doi.org/10.1006/geno.1996.0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975705">Kohlhase et al. (1996)</a> used Northern blot analysis to show that the SALL1 gene is expressed in a subset of human tissues, with highest expression in kidney, brain, and liver. They showed by in situ hybridization that SALL1 and SALL2 (<a href="/entry/602219">602219</a>) are expressed in different areas of the fetal brain, probably in distinct sets of neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8975705" 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="#6" class="mim-tip-reference" title="Chai, L., Yang, J., Di, C., Cui, W., Kawakami, K., Lai, R., Ma, Y. <strong>Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.</strong> J. Biol. Chem. 281: 18918-18926, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16670092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16670092</a>] [<a href="https://doi.org/10.1074/jbc.M600180200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16670092">Chai et al. (2006)</a> determined that the SALL1 gene contains 3 exons. The 5-prime flanking region contains no TATA or CAAT boxes, but it is GC rich and contains several GC boxes. It also has 11 WT1 (<a href="/entry/607102">607102</a>)-binding sites and a single SIX1 (<a href="/entry/601205">601205</a>)-binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16670092" 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="#13" class="mim-tip-reference" title="Kohlhase, J., Schuh, R., Dowe, G., Kuhnlein, R. P., Jackle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Kohler, A., Muller, U., Raab-Vetter, M., Burkhardt, E., Engel, W., Stick, R. <strong>Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.</strong> Genomics 38: 291-298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8975705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8975705</a>] [<a href="https://doi.org/10.1006/geno.1996.0631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8975705">Kohlhase et al. (1996)</a> mapped the SALL1 and SALL2 genes to chromosome 16q12.1 and 14q11.1-q12.1, respectively, by fluorescence in situ hybridization. Using FISH, <a href="#6" class="mim-tip-reference" title="Chai, L., Yang, J., Di, C., Cui, W., Kawakami, K., Lai, R., Ma, Y. <strong>Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.</strong> J. Biol. Chem. 281: 18918-18926, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16670092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16670092</a>] [<a href="https://doi.org/10.1074/jbc.M600180200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16670092">Chai et al. (2006)</a> confirmed that SALL1 maps to chromosome 16q12.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8975705+16670092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Buck, A., Archangelo, L., Dixkens, C., Kohlhase, J. <strong>Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1.</strong> Cytogenet. Cell Genet. 89: 150-153, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10965108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10965108</a>] [<a href="https://doi.org/10.1159/000015598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10965108">Buck et al. (2000)</a> cloned the mouse ortholog, Sall1, and mapped the Sall1 gene to chromosome 8D1, a region that shows conserved synteny with human chromosome 16q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10965108" 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="#19" class="mim-tip-reference" title="Netzer, C., Rieger, L., Brero, A., Zhang, C.-D., Hinzke, M., Kohlhase, J., Bohlander, S. K. <strong>SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.</strong> Hum. Molec. Genet. 10: 3017-3024, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751684</a>] [<a href="https://doi.org/10.1093/hmg/10.26.3017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11751684">Netzer et al. (2001)</a> used epifluorescence and confocal microscopy to localize a GFP-SALL1 fusion protein to chromocenters and smaller heterochromatin foci in transiently transfected NIH 3T3 cells. Chromocenters consist of clustered pericentromeric heterochromatin and contain telomere sequences. Indirect immunofluorescence revealed a partial colocalization of GFP-SALL1 with M31, the mouse homolog of the Drosophila heterochromatic protein HP1 (CBX5; <a href="/entry/604478">604478</a>). SALL1 acted as a strong transcriptional repressor which could not be relieved by the addition of the histone deacetylase inhibitor trichostatin A. Using a yeast 2-hybrid screen, PIN2, an isoform of telomere repeat-binding factor 1 (TERF1; <a href="/entry/600951">600951</a>), was identified as an interaction partner of SALL1. The interaction was confirmed in vitro in a GST pull-down assay. The authors proposed an involvement of SALL1 in the regulation of higher order chromatin structures and hypothesized that the protein may be a component of a distinct heterochromatin-dependent silencing process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using gel retardation assays, reporter gene assays, and mutation analysis, <a href="#6" class="mim-tip-reference" title="Chai, L., Yang, J., Di, C., Cui, W., Kawakami, K., Lai, R., Ma, Y. <strong>Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.</strong> J. Biol. Chem. 281: 18918-18926, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16670092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16670092</a>] [<a href="https://doi.org/10.1074/jbc.M600180200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16670092">Chai et al. (2006)</a> showed that SIX1 (<a href="/entry/601205">601205</a>) directly bound the SALL1 promoter and induced SALL1 expression in a dose-dependent manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16670092" 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>Truncated SALL1</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R. <strong>Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 102: 249-265, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29395072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29395072</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29395072[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.12.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29395072">Bozal-Basterra et al. (2018)</a> showed that primary fibroblasts derived from Townes-Brocks syndrome (TBS; <a href="/entry/107480">107480</a>) patients exhibit changes in SALL1 localization, a higher rate of ciliogenesis, abnormally elongated cilia, aberrant cilia disassembly, and SHH (<a href="/entry/600725">600725</a>) signaling defects. Through proximity proteomics, <a href="#4" class="mim-tip-reference" title="Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R. <strong>Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 102: 249-265, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29395072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29395072</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29395072[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.12.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29395072">Bozal-Basterra et al. (2018)</a> identified 2 main ciliogenesis suppressors, CCP110 (<a href="/entry/609544">609544</a>) and CEP97 (<a href="/entry/615864">615864</a>), as interactors of TBS-causing truncated SALL1. The higher rate of ciliogenesis detected in TBS-derived primary fibroblasts is consistent with an observed lower amount of CCP110 and CEP97 at the mother centriole in these fibroblasts compared with controls. <a href="#4" class="mim-tip-reference" title="Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R. <strong>Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 102: 249-265, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29395072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29395072</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29395072[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.12.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29395072">Bozal-Basterra et al. (2018)</a> noted that truncated SALL1, alone or with full-length SALL1, sequesters CCP110 and CEP97, disrupting cilia formation and function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29395072" 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 expression patterns of sal-like genes in mouse, Xenopus, and the fish Medaka, and the finding that Medaka sal is regulated by Sonic hedgehog (<a href="/entry/600725">600725</a>), prompted <a href="#15" class="mim-tip-reference" title="Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. <strong>Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.</strong> Nature Genet. 18: 81-83, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425907</a>] [<a href="https://doi.org/10.1038/ng0198-81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425907">Kohlhase et al. (1998)</a> to examine SALL1 as a candidate gene for Townes-Brocks syndrome (TBS; <a href="/entry/107480">107480</a>). TBS is a rare, autosomal dominant malformation syndrome with a combination of anal, renal, limb, and ear anomalies. They demonstrated SALL1 mutations in a family with 3 cases of TBS in 2 generations (<a href="#0001">602218.0001</a>) and in an unrelated family with a sporadic case of TBS (<a href="#0002">602218.0002</a>). Both mutations were predicted to result in a prematurely SALL1 protein lacking all putative DNA-binding domains. TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc finger transcription factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425907" 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 determine the spectrum of SALL1 mutations in TBS and to investigate the genotype-phenotype correlations, <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> examined 23 additional families with TBS or similar phenotypes for SALL1 mutations. In 9 of the families, mutations were identified. None of the mutations had previously been described. Two of the mutations were nonsense mutations, 1 of which occurred in 3 unrelated families (<a href="#0003">602218.0003</a>). Five of the mutations were short deletions. All of the mutations were located 5-prime of the first double zinc finger (DZF)-encoding region and were therefore predicted to result in prematurely terminated proteins lacking all DZF domains. This suggested that only those SALL1 mutations that remove the DZF domains result in TBS. <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> also presented evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome (<a href="/entry/164210">164210</a>); see <a href="#0005">602218.0005</a>. On the whole, however, phenotypic differences in TBS did not seem to depend on the site of the mutation within the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973281" 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="#18" class="mim-tip-reference" title="Marlin, S., Blanchard, S., Slim, R., Lacombe, D., Denoyelle, F., Alessandri, J.-L., Calzolari, E., Drouin-Garraud, V., Ferraz, F. G., Fourmaintraux, A., Philip, N., Toublanc, J.-E., Petit, C. <strong>Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.</strong> Hum. Mutat. 14: 377-386, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533063</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533063">Marlin et al. (1999)</a> searched for SALL1 mutations in 11 unrelated individuals with TBS (5 familial and 6 sporadic) and detected a mutation in 9 of them. One nonsense and 6 different novel frameshift mutations, all located in the second exon, were identified. Together with the previously reported mutations, the new information established that TBS results from haploinsufficiency. The finding of de novo mutations in the sporadic cases was consistent with the proposed complete penetrance of the disorder. Moreover, the occurrence of the same 826C-T transition in a CG dimer, in 3 sporadic cases from the present series and 3 sporadic cases from the series of <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a>, representing 6 of the 8 mutations identified in sporadic cases, revealed the existence of a mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10533063+9973281" 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>The occurrence of a balanced translocation t(5;16)(p15.3;q12.1) in a child with Townes-Brocks syndrome had permitted assignment of the causative gene to 16q12.1 (<a href="#21" class="mim-tip-reference" title="Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P. <strong>Townes-Brocks syndrome in an infant with translocation t(5;16).</strong> Genet. Counsel. 4: 109-112, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8357560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8357560</a>]" pmid="8357560">Serville et al., 1993</a>). <a href="#18" class="mim-tip-reference" title="Marlin, S., Blanchard, S., Slim, R., Lacombe, D., Denoyelle, F., Alessandri, J.-L., Calzolari, E., Drouin-Garraud, V., Ferraz, F. G., Fourmaintraux, A., Philip, N., Toublanc, J.-E., Petit, C. <strong>Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.</strong> Hum. Mutat. 14: 377-386, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533063</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533063">Marlin et al. (1999)</a> found no modification of the SALL1 gene in this patient. Further studies indicated that the breakpoint was at least 180 kb telomeric to SALL1, thus indicating that a position effect underlay the disease in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10533063+8357560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Kohlhase, J. <strong>SALL1 mutations in Townes-Brocks syndrome and related disorders.</strong> Hum. Mutat. 16: 460-466, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102974</a>] [<a href="https://doi.org/10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11102974">Kohlhase (2000)</a> stated that 19 of the 20 known SALL1 mutations were located in exon 2, 5-prime of the third double zinc finger-encoding region. These are nonsense mutations, short insertions, and short deletions, as well as 1 gross intraexonic deletion. One mutation within intron 2 created an aberrant splice site. Most mutations led to preterminal stop codons and were thought to cause the phenotype of Townes-Brocks syndrome via haploinsufficiency. However, one short deletion resulted in a phenotype different from TBS and may have been produced by a dominant-negative effect of a truncated SALL1 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a father and 2 daughters with a disorder showing phenotypic overlap between Townes-Brocks syndrome (<a href="/entry/107480">107480</a>) and branchiootorenal dysplasia (<a href="/entry/113650">113650</a>), <a href="#7" class="mim-tip-reference" title="Engels, S., Kohlhase, J., McGaughran, J. <strong>A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)</strong> J. Med. Genet. 37: 458-460, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928856</a>] [<a href="https://doi.org/10.1136/jmg.37.6.458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10928856">Engels et al. (2000)</a> identified a mutation in the SALL1 gene (<a href="#0007">602218.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928856" 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="Keegan, C. E., Mulliken, J. B., Wu, B.-L., Korf, B. R. <strong>Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a 'hot spot' for mutation in the SALL1 gene.</strong> Genet. Med. 3: 310-313, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11478532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11478532</a>] [<a href="https://doi.org/10.1097/00125817-200107000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11478532">Keegan et al. (2001)</a> analyzed the SALL1 gene in 4 patients with hemifacial microsomia-expanded spectrum and anal anomalies (see <a href="/entry/164210">164210</a>) and identified the R276X mutation (<a href="#0003">602218.0003</a>) in 1 patient. The authors suggested that patients with overlapping features of both Townes-Brock syndrome and hemifacial microsomia-expanded spectrum should be screened for SALL1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11478532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 members of a nonconsanguineous German family who exhibited only some features of Townes-Brocks syndrome (see <a href="/entry/107480">107480</a>), with intrafamilial variation, <a href="#1" class="mim-tip-reference" title="Albrecht, B., Liebers, M., Kohlhase, J. <strong>Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)</strong> Am. J. Med. Genet. 125A: 102-104, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755477</a>] [<a href="https://doi.org/10.1002/ajmg.a.20484" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755477">Albrecht et al. (2004)</a> identified a mutation in the SALL1 gene (<a href="#0009">602218.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Botzenhart, E. M., Green, A., Ilyina, H., Konig, R., Lowry, R. B., Lo, I. F. M., Shohat, M., Burke, L., McGaughran, J., Chafai, R., Pierquin, G., Michaelis, R. C., Whiteford, M. L., Simola, K. O. J., Rosler, B., Kohlhase, J. <strong>SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.</strong> Hum. Mutat. 26: 282, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088922</a>] [<a href="https://doi.org/10.1002/humu.9362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088922">Botzenhart et al. (2005)</a> stated that 35 mutations had been identified in the SALL1 gene. Most mutations occur 5-prime to or within the region encoding the first double zinc finger. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bohm, J., Munk-Schulenburg, S., Felscher, S., Kohlhase, J. <strong>SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.</strong> Am. J. Med. Genet. 140A: 1904-1908, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16892410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16892410</a>] [<a href="https://doi.org/10.1002/ajmg.a.31383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16892410">Bohm et al. (2006)</a> traced the parental origin of SALL1 mutations in sporadic TBS by analysis of linkage between SALL1 mutations and exonic or intronic polymorphisms in 16 families with 10 different mutations. Mutations were of paternal origin in 14 (87.5%) of 16 cases, independent of mutation type and with no obvious paternal age effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16892410" 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="#17" class="mim-tip-reference" title="Kosaki, R., Fujimaru, R., Samejima, H., Yamada, H., Izumi, K., Iijima, K., Kosaki, K. <strong>Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome.</strong> Am. J. Med. Genet. 143A: 1087-1090, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17431915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17431915</a>] [<a href="https://doi.org/10.1002/ajmg.a.31700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17431915">Kosaki et al. (2007)</a> analyzed the SALL1 gene in 2 sisters, 1 with a Townes-Brocks syndrome phenotype and the other exhibiting some features of Goldenhar syndrome (<a href="/entry/164210">164210</a>), and identified heterozygosity for a mutation (L419X; <a href="#0010">602218.0010</a>). Their mother, who had dysplastic external ears but was otherwise normal, also carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17431915" 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="#22" class="mim-tip-reference" title="Si Dong, P. D., Todi, S. V., Eberl, D. F., Boekhoff-Falk, G. <strong>Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.</strong> Proc. Nat. Acad. Sci. 100: 10293-10298, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12925729[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/10.1073/pnas.1836391100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12925729">Si Dong et al. (2003)</a> examined the effect of losing both of the spalt genes (spalt and spalt-related) in the Drosophila melanogaster, and reported defects similar to those in humans with Townes-Brocks syndrome. Loss of both spalt and spalt-related function in flies yielded morphologic defects in the testes, genitalia, and antenna. Furthermore, spalt/spalt-related mutant antennae showed severe reduction in Johnston's organ, the major auditory organ in Drosophila. Electrophysiologic analyses confirmed that spalt/spalt-related mutant flies are deaf. These commonalities suggested that there is functional conservatism for spalt genes between vertebrates and insects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12925729" 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>Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, <a href="#20" class="mim-tip-reference" title="Nishinakamura, R., Matsumoto, Y., Nakao, K., Nakamura, K., Sato, A., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Scully, S., Lacey, D. L., Katsuki, M., Asashima, M., Yokota, T. <strong>Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development.</strong> Development 128: 3105-3115, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11688560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11688560</a>] [<a href="https://doi.org/10.1242/dev.128.16.3105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11688560">Nishinakamura et al. (2001)</a> reported a mouse model carrying a Sall1 null allele which did not mimic the human syndrome. <a href="#11" class="mim-tip-reference" title="Kiefer, S. M., Ohlemiller, K. K., Yang, J., McDill, B. W., Kohlhase, J., Rauchman, M. <strong>Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.</strong> Hum. Molec. Genet. 12: 2221-2227, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915476</a>] [<a href="https://doi.org/10.1093/hmg/ddg233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915476">Kiefer et al. (2003)</a> created a mutant murine Sall1 allele that produced a truncated protein and recapitulated the abnormalities found in human TBS. Heterozygous mice mimicked TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia, and wrist bone abnormalities. Homozygous mutant mice exhibited more severe defects than Sall1 null mice, including complete renal agenesis, exencephaly, and limb and anal deformities. Truncated Sall1 mediated interaction with all Sall family members and could therefore interfere with the normal function of all Sall proteins. The authors proposed a model for the pathogenesis of TBS in which expression of truncated SALL1 protein causes abnormal development of multiple organs, either due to dominant-negative or gain-of-function activity of the mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12915476+11688560" 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 Sall1-mutant transgenic mice, <a href="#12" class="mim-tip-reference" title="Kiefer, S. M., Robbins, L., Barina, A., Zhang, Z., Rauchman, M. <strong>SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.</strong> Hum. Mutat. 29: 1133-1140, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18470945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18470945</a>] [<a href="https://doi.org/10.1002/humu.20759" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18470945">Kiefer et al. (2008)</a> showed that mutant Sall1 protein alone is sufficient to cause limb phenotypes that are characteristic of TBS patients. Using a B-cell line from a patient with the R276X mutation, the authors demonstrated expression of truncated SALL1 protein, indicating that the same pathogenetic mechanism occurs in humans. <a href="#12" class="mim-tip-reference" title="Kiefer, S. M., Robbins, L., Barina, A., Zhang, Z., Rauchman, M. <strong>SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.</strong> Hum. Mutat. 29: 1133-1140, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18470945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18470945</a>] [<a href="https://doi.org/10.1002/humu.20759" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18470945">Kiefer et al. (2008)</a> also found that TBS mutant protein is capable of dominant-negative activity that results in ectopic activation of 2 downstream genes, Nppa (<a href="/entry/108780">108780</a>) and Shox2 (<a href="/entry/602504">602504</a>), in the developing mouse heart and limb, and proposed a model for TBS pathogenesis in which truncated SALL1 protein causes derepression of SALL-responsive target genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18470945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602218[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1597230349 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597230349;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=rs1597230349" 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=rs1597230349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a family in which the mother and a daughter and son by different fathers had TBS (<a href="/entry/107480">107480</a>), <a href="#15" class="mim-tip-reference" title="Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. <strong>Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.</strong> Nature Genet. 18: 81-83, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425907</a>] [<a href="https://doi.org/10.1038/ng0198-81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425907">Kohlhase et al. (1998)</a> demonstrated that affected individuals were heterozygous for deletion of 1377C. The mutation was predicted to cause a frameshift, resulting in a putatively prematurely terminated SALL1 protein lacking all double zinc finger domains. Subsequently, with a revised number system, <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> designated this mutation as 1268delC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9973281+9425907" 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 sporadic case of TBS (<a href="/entry/107480">107480</a>), <a href="#15" class="mim-tip-reference" title="Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. <strong>Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.</strong> Nature Genet. 18: 81-83, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425907</a>] [<a href="https://doi.org/10.1038/ng0198-81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425907">Kohlhase et al. (1998)</a> found a heterozygous 1222C-A transversion, converting a serine codon (TCA) to a stop codon. Subsequently, using a revised numbering system, <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> designated this mutation as 1115C-A and the amino acid change as ser372 to ter (S372X). Notably the same nucleotide and amino acid were involved in the 1115C-G mutation (<a href="#0004">602218.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9973281+9425907" 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> rs104894537 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894537;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/rs104894537?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=rs104894537" 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=rs104894537" 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=RCV000007853 OR RCV000792529 OR RCV003221781" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007853, RCV000792529, RCV003221781" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007853...</a>
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<p>In 3 presumably unrelated families, <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> found that TBS (<a href="/entry/107480">107480</a>) was associated with a heterozygous 826C-T mutation, resulting in change of an arginine to a stop codon (arg276 to ter; R276X). All affected children had 'sporadic' TBS and all clinically unaffected parents did not show the mutation. <a href="#18" class="mim-tip-reference" title="Marlin, S., Blanchard, S., Slim, R., Lacombe, D., Denoyelle, F., Alessandri, J.-L., Calzolari, E., Drouin-Garraud, V., Ferraz, F. G., Fourmaintraux, A., Philip, N., Toublanc, J.-E., Petit, C. <strong>Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.</strong> Hum. Mutat. 14: 377-386, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533063</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533063">Marlin et al. (1999)</a> found the same 826C-T transition in a CG dimer in 3 sporadic cases. The finding of the same mutation in 6 sporadic cases indicates the existence of a specific mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10533063+9973281" 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="Keegan, C. E., Mulliken, J. B., Wu, B.-L., Korf, B. R. <strong>Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a 'hot spot' for mutation in the SALL1 gene.</strong> Genet. Med. 3: 310-313, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11478532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11478532</a>] [<a href="https://doi.org/10.1097/00125817-200107000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11478532">Keegan et al. (2001)</a> identified this mutation in a patient previously diagnosed with hemifacial microsomia-expanded spectrum (see <a href="/entry/164210">164210</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11478532" 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">rs104894535 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894535;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=rs104894535" 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=rs104894535" 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=RCV000007854" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007854" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007854</a>
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<p>In a case of Townes-Brocks syndrome (<a href="/entry/107480">107480</a>), <a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> found a C-to-G transversion at nucleotide 1115, causing a change of a serine to a stop codon (ser372 to ter; S372X). The nucleotide involved in this case is the same as that involved in a previously reported mutation, 1115C-A (<a href="#0002">602218.0002</a>), which caused the same S372X change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973281" 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">rs1597230341 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597230341;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=rs1597230341" 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=rs1597230341" 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=RCV000007855" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007855" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007855</a>
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<p><a href="#14" class="mim-tip-reference" title="Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others. <strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong> Am. J. Hum. Genet. 64: 435-445, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973281</a>] [<a href="https://doi.org/10.1086/302238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973281">Kohlhase et al. (1999)</a> demonstrated a 2-bp deletion in the SALL1 gene in a girl reported by <a href="#9" class="mim-tip-reference" title="Gabrielli, O., Bonifazi, V., Offidani, A. M., Cellini, A., Coppa, G. V., Giorgi, P. L. <strong>Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?</strong> Minerva Pediat. 45: 459-462, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8133838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8133838</a>]" pmid="8133838">Gabrielli et al. (1993)</a> as presenting features of both Goldenhar syndrome (<a href="/entry/164210">164210</a>) and Townes-Brocks syndrome (<a href="/entry/107480">107480</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9973281+8133838" 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">rs1597230241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597230241;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=rs1597230241" 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=rs1597230241" 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=RCV000007856" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007856" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007856</a>
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<p>In a screening of 11 unrelated individuals with Townes-Brocks syndrome (<a href="/entry/107480">107480</a>), <a href="#18" class="mim-tip-reference" title="Marlin, S., Blanchard, S., Slim, R., Lacombe, D., Denoyelle, F., Alessandri, J.-L., Calzolari, E., Drouin-Garraud, V., Ferraz, F. G., Fourmaintraux, A., Philip, N., Toublanc, J.-E., Petit, C. <strong>Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.</strong> Hum. Mutat. 14: 377-386, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533063</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533063">Marlin et al. (1999)</a> identified a 2-bp deletion, 1347-1348delCA, causing a frameshift in the SALL1 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10533063" 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 TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE 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">rs1597229721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597229721;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=rs1597229721" 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=rs1597229721" 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=RCV000007857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007857</a>
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<p><a href="#7" class="mim-tip-reference" title="Engels, S., Kohlhase, J., McGaughran, J. <strong>A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)</strong> J. Med. Genet. 37: 458-460, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928856</a>] [<a href="https://doi.org/10.1136/jmg.37.6.458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10928856">Engels et al. (2000)</a> described a father and his 2 affected daughters who had phenotypic features which overlapped those of Townes-Brocks syndrome (<a href="/entry/107480">107480</a>) and branchiootorenal syndrome (<a href="/entry/113650">113650</a>). A heterozygous 1-bp deletion was found at nucleotide 1819 in exon 2 of the SALL1 gene between the coding regions for the first and second double zinc finger unit. <a href="#7" class="mim-tip-reference" title="Engels, S., Kohlhase, J., McGaughran, J. <strong>A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)</strong> J. Med. Genet. 37: 458-460, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928856</a>] [<a href="https://doi.org/10.1136/jmg.37.6.458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10928856">Engels et al. (2000)</a> proposed that this mutation may result in a truncated protein rather than an unstable mRNA, causing the variant phenotype seen in these patients. The daughters had dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, and mild developmental delay. The father showed impaired renal function, dysplastic ears, and gastroesophageal reflux. The affected individuals lacked abnormalities of the anus or thumbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928856" 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">rs1597230909 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597230909;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=rs1597230909" 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=rs1597230909" 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=RCV000007858" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007858" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007858</a>
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<p>In a family in which 7 individuals in 4 sibships in 3 generations had Townes-Brocks syndrome (<a href="/entry/107480">107480</a>), <a href="#23" class="mim-tip-reference" title="Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K. <strong>Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.</strong> Am. J. Med. Genet. 102: 250-257, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11484202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11484202</a>] [<a href="https://doi.org/10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11484202">Surka et al. (2001)</a> found a heterozygous mutation of SALL1: a 2-bp deletion at nucleotides 792-293 in exon 2 of the SALL1 gene, resulting in a frameshift and a truncated protein lacking all double zinc finger domains presumed to be essential for gene function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11484202" 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 TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE 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">rs104894538 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894538;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=rs104894538" 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=rs104894538" 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=RCV000007859 OR RCV000697040 OR RCV000989601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007859, RCV000697040, RCV000989601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007859...</a>
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<p>In 3 members of a nonconsanguineous German family who had only some features of Townes-Brocks syndrome (see <a href="/entry/107480">107480</a>), <a href="#1" class="mim-tip-reference" title="Albrecht, B., Liebers, M., Kohlhase, J. <strong>Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)</strong> Am. J. Med. Genet. 125A: 102-104, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755477</a>] [<a href="https://doi.org/10.1002/ajmg.a.20484" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755477">Albrecht et al. (2004)</a> identified a heterozygous 967C-T transition, resulting in a gln323-to-ter substitution (Q323X) that predicts a prematurely terminated protein lacking all double zinc finger domains or no protein at all. Characteristic features of TBS included preauricular tags, overfolded helices, hypospadias, and impaired renal function; 1 brother had only hypospadias and underriding third toes. None of the affected family members had the characteristic anal or hand malformations of TBS. <a href="#1" class="mim-tip-reference" title="Albrecht, B., Liebers, M., Kohlhase, J. <strong>Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)</strong> Am. J. Med. Genet. 125A: 102-104, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755477</a>] [<a href="https://doi.org/10.1002/ajmg.a.20484" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755477">Albrecht et al. (2004)</a> noted the similarity between their patients and the patients reported by <a href="#7" class="mim-tip-reference" title="Engels, S., Kohlhase, J., McGaughran, J. <strong>A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)</strong> J. Med. Genet. 37: 458-460, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928856</a>] [<a href="https://doi.org/10.1136/jmg.37.6.458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10928856">Engels et al. (2000)</a> with features overlapping Townes-Brocks syndrome and branchiootorenal syndrome (<a href="/entry/113650">113650</a>); see <a href="#0007">602218.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14755477+10928856" 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> rs137853084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853084;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/rs137853084?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=rs137853084" 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=rs137853084" 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=RCV000007860" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007860" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007860</a>
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<p>In 2 sisters, 1 with a Townes-Brocks syndrome phenotype (<a href="/entry/107480">107480</a>) and the other exhibiting some features of Goldenhar syndrome, <a href="#17" class="mim-tip-reference" title="Kosaki, R., Fujimaru, R., Samejima, H., Yamada, H., Izumi, K., Iijima, K., Kosaki, K. <strong>Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome.</strong> Am. J. Med. Genet. 143A: 1087-1090, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17431915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17431915</a>] [<a href="https://doi.org/10.1002/ajmg.a.31700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17431915">Kosaki et al. (2007)</a> identified heterozygosity for a 1256T-A transversion in the SALL1 gene, resulting in a leu419-to-ter (L419X) substitution predicted to cause loss of all double-zinc finger domains. Their mother, who had only dysplastic ears, was also heterozygous for the mutation. The sisters were also heterozygous for P270L, a known polymorphism in the SALL1 gene, which they inherited from their unaffected father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17431915" 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">rs1597230687 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597230687;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=rs1597230687" 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=rs1597230687" 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=RCV000007862" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007862" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007862</a>
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<p>In a patient with Townes-Brocks syndrome (<a href="/entry/107480">107480</a>), <a href="#8" class="mim-tip-reference" title="Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M. <strong>Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.</strong> Am. J. Med. Genet. 143A: 3150-3160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18000979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18000979</a>] [<a href="https://doi.org/10.1002/ajmg.a.32097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18000979">Furniss et al. (2007)</a> reported a heterozygous 1-bp deletion (995delC) in exon 2 of the SALL1 gene, resulting in a frameshift and premature termination. The patient had bilateral preaxial polydactyly, imperforate anus, rectal atresia, hypospadias, and overfolded helices. The mutation was found to be resistant to nonsense-mediated decay. <a href="#8" class="mim-tip-reference" title="Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M. <strong>Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.</strong> Am. J. Med. Genet. 143A: 3150-3160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18000979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18000979</a>] [<a href="https://doi.org/10.1002/ajmg.a.32097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18000979">Furniss et al. (2007)</a> concluded that the phenotype was caused by a truncated SALL1 protein acting in a dominant-negative manner. These findings were in contrast to another SALL1 mutation (<a href="#0012">602218.0012</a>) that did undergo nonsense-mediated decay and was associated with a milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18000979" 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">rs1064793257 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064793257;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=rs1064793257" 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=rs1064793257" 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=RCV000007863 OR RCV000486755 OR RCV000526857 OR RCV004751556" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007863, RCV000486755, RCV000526857, RCV004751556" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007863...</a>
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<p>In a patient with Townes-Brocks syndrome (<a href="/entry/107480">107480</a>), <a href="#8" class="mim-tip-reference" title="Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M. <strong>Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.</strong> Am. J. Med. Genet. 143A: 3150-3160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18000979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18000979</a>] [<a href="https://doi.org/10.1002/ajmg.a.32097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18000979">Furniss et al. (2007)</a> reported a heterozygous 2-bp deletion (3414delAT) in the SALL1 gene, resulting in a frameshift and premature termination. The patient had a relatively mild phenotype, with 1 limb affected by preaxial polydactyly and a triphalangeal thumb. The mutation was found to undergo nonsense-mediated decay, which the authors postulated may have accounted for the relatively mild phenotype by eliminating a possible dominant-negative effect. See also <a href="#0011">602218.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18000979" 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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Am. J. Med. Genet. 125A: 102-104, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755477" 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.20484" target="_blank">Full Text</a>]
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<strong>SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.</strong>
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Am. J. Med. Genet. 140A: 1904-1908, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16892410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16892410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16892410" 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.31383" target="_blank">Full Text</a>]
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Botzenhart, E. M., Green, A., Ilyina, H., Konig, R., Lowry, R. B., Lo, I. F. M., Shohat, M., Burke, L., McGaughran, J., Chafai, R., Pierquin, G., Michaelis, R. C., Whiteford, M. L., Simola, K. O. J., Rosler, B., Kohlhase, J.
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<strong>SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.</strong>
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Hum. Mutat. 26: 282, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088922" 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/humu.9362" target="_blank">Full Text</a>]
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Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R.
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<strong>Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.</strong>
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[<a href="https://doi.org/10.1016/j.ajhg.2017.12.017" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000015598" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M600180200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.37.6.458" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32097" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00125817-200107000-00007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg233" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.20759" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302238" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0198-81" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.26.3017" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1242/dev.128.16.3105" target="_blank">Full Text</a>]
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<a id="Serville1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P.
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<strong>Townes-Brocks syndrome in an infant with translocation t(5;16).</strong>
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Genet. Counsel. 4: 109-112, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8357560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8357560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8357560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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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="Si Dong2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Si Dong, P. D., Todi, S. V., Eberl, D. F., Boekhoff-Falk, G.
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<strong>Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.</strong>
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Proc. Nat. Acad. Sci. 100: 10293-10298, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12925729[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=12925729" 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/10.1073/pnas.1836391100" 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="Surka2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K.
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<strong>Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.</strong>
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Am. J. Med. Genet. 102: 250-257, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11484202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11484202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11484202" 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/10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q" 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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<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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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/19/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 1/6/2011<br>Marla J. F. O'Neill - updated : 10/20/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Marla J. F. O'Neill - updated : 2/1/2008<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Cassandra L. Kniffin - updated : 1/3/2006<br>Marla J. F. O'Neill - updated : 5/18/2004<br>George E. Tiller - updated : 3/16/2004<br>Victor A. McKusick - updated : 10/9/2003<br>George E. Tiller - updated : 8/20/2002<br>Ada Hamosh - updated : 8/30/2001<br>Victor A. McKusick - updated : 8/27/2001<br>Michael J. Wright - updated : 7/23/2001<br>Carol A. Bocchini - updated : 1/16/2001<br>Victor A. McKusick - updated : 1/2/2001<br>Victor A. McKusick - updated : 12/10/1999<br>Victor A. McKusick - updated : 2/5/1999<br>Jennifer P. Macke - updated : 2/9/1998
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/29/1997
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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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/24/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 06/19/2018<br>carol : 10/01/2014<br>carol : 10/1/2014<br>carol : 9/10/2013<br>mgross : 1/12/2011<br>terry : 1/6/2011<br>wwang : 12/3/2009<br>wwang : 10/27/2009<br>terry : 10/20/2009<br>carol : 2/10/2009<br>ckniffin : 1/12/2009<br>wwang : 2/7/2008<br>terry : 2/1/2008<br>wwang : 10/26/2006<br>terry : 10/25/2006<br>wwang : 1/11/2006<br>wwang : 1/10/2006<br>ckniffin : 1/3/2006<br>joanna : 6/30/2004<br>carol : 6/29/2004<br>carol : 5/19/2004<br>carol : 5/19/2004<br>terry : 5/18/2004<br>tkritzer : 3/16/2004<br>cwells : 10/9/2003<br>cwells : 8/20/2002<br>cwells : 9/14/2001<br>cwells : 8/30/2001<br>cwells : 8/30/2001<br>carol : 8/27/2001<br>alopez : 7/27/2001<br>terry : 7/23/2001<br>terry : 1/16/2001<br>carol : 1/16/2001<br>carol : 1/12/2001<br>cwells : 1/11/2001<br>terry : 1/2/2001<br>carol : 6/27/2000<br>mcapotos : 12/15/1999<br>mcapotos : 12/13/1999<br>terry : 12/10/1999<br>terry : 12/10/1999<br>mgross : 3/10/1999<br>mgross : 2/12/1999<br>mgross : 2/9/1999<br>terry : 2/5/1999<br>dholmes : 2/9/1998<br>dholmes : 2/9/1998<br>terry : 12/29/1997<br>alopez : 12/23/1997<br>alopez : 12/23/1997<br>alopez : 12/23/1997
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</span>
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602218
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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SAL-LIKE 1; SALL1
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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HSAL1
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</span>
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</h4>
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<div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SALL1</em></strong>
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</span>
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</p>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 24750000;
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</span>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:51,135,982-51,152,334 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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16q12.1
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<td>
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<span class="mim-font">
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Townes-Brocks branchiootorenal-like syndrome
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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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107480
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<tr>
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<td>
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<span class="mim-font">
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Townes-Brocks syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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107480
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The region-specific homeotic gene spalt (sal) of Drosophila is an essential genetic component required for the specification of posterior head and anterior tail as opposed to trunk segments. Sal encodes a protein that contains 3 distinct DNA-binding zinc finger domains and alanine- and glutamine-rich domains that are commonly found in transcription factors (Kohlhase et al., 1996) </p>
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<div>
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<br />
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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. (1996) used the unusual but characteristic structure of sal to isolate sal-like genes from humans. The SALL1 gene encodes a putative protein of 1,306 amino acids. Kohlhase et al. (1996) used Northern blot analysis to show that the SALL1 gene is expressed in a subset of human tissues, with highest expression in kidney, brain, and liver. They showed by in situ hybridization that SALL1 and SALL2 (602219) are expressed in different areas of the fetal brain, probably in distinct sets of neurons. </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>Chai et al. (2006) determined that the SALL1 gene contains 3 exons. The 5-prime flanking region contains no TATA or CAAT boxes, but it is GC rich and contains several GC boxes. It also has 11 WT1 (607102)-binding sites and a single SIX1 (601205)-binding site. </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. (1996) mapped the SALL1 and SALL2 genes to chromosome 16q12.1 and 14q11.1-q12.1, respectively, by fluorescence in situ hybridization. Using FISH, Chai et al. (2006) confirmed that SALL1 maps to chromosome 16q12.1. </p><p>Buck et al. (2000) cloned the mouse ortholog, Sall1, and mapped the Sall1 gene to chromosome 8D1, a region that shows conserved synteny with human chromosome 16q. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Netzer et al. (2001) used epifluorescence and confocal microscopy to localize a GFP-SALL1 fusion protein to chromocenters and smaller heterochromatin foci in transiently transfected NIH 3T3 cells. Chromocenters consist of clustered pericentromeric heterochromatin and contain telomere sequences. Indirect immunofluorescence revealed a partial colocalization of GFP-SALL1 with M31, the mouse homolog of the Drosophila heterochromatic protein HP1 (CBX5; 604478). SALL1 acted as a strong transcriptional repressor which could not be relieved by the addition of the histone deacetylase inhibitor trichostatin A. Using a yeast 2-hybrid screen, PIN2, an isoform of telomere repeat-binding factor 1 (TERF1; 600951), was identified as an interaction partner of SALL1. The interaction was confirmed in vitro in a GST pull-down assay. The authors proposed an involvement of SALL1 in the regulation of higher order chromatin structures and hypothesized that the protein may be a component of a distinct heterochromatin-dependent silencing process. </p><p>Using gel retardation assays, reporter gene assays, and mutation analysis, Chai et al. (2006) showed that SIX1 (601205) directly bound the SALL1 promoter and induced SALL1 expression in a dose-dependent manner. </p><p><strong><em>Truncated SALL1</em></strong></p><p>
|
|
Bozal-Basterra et al. (2018) showed that primary fibroblasts derived from Townes-Brocks syndrome (TBS; 107480) patients exhibit changes in SALL1 localization, a higher rate of ciliogenesis, abnormally elongated cilia, aberrant cilia disassembly, and SHH (600725) signaling defects. Through proximity proteomics, Bozal-Basterra et al. (2018) identified 2 main ciliogenesis suppressors, CCP110 (609544) and CEP97 (615864), as interactors of TBS-causing truncated SALL1. The higher rate of ciliogenesis detected in TBS-derived primary fibroblasts is consistent with an observed lower amount of CCP110 and CEP97 at the mother centriole in these fibroblasts compared with controls. Bozal-Basterra et al. (2018) noted that truncated SALL1, alone or with full-length SALL1, sequesters CCP110 and CEP97, disrupting cilia formation and function. </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>The expression patterns of sal-like genes in mouse, Xenopus, and the fish Medaka, and the finding that Medaka sal is regulated by Sonic hedgehog (600725), prompted Kohlhase et al. (1998) to examine SALL1 as a candidate gene for Townes-Brocks syndrome (TBS; 107480). TBS is a rare, autosomal dominant malformation syndrome with a combination of anal, renal, limb, and ear anomalies. They demonstrated SALL1 mutations in a family with 3 cases of TBS in 2 generations (602218.0001) and in an unrelated family with a sporadic case of TBS (602218.0002). Both mutations were predicted to result in a prematurely SALL1 protein lacking all putative DNA-binding domains. TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc finger transcription factor. </p><p>To determine the spectrum of SALL1 mutations in TBS and to investigate the genotype-phenotype correlations, Kohlhase et al. (1999) examined 23 additional families with TBS or similar phenotypes for SALL1 mutations. In 9 of the families, mutations were identified. None of the mutations had previously been described. Two of the mutations were nonsense mutations, 1 of which occurred in 3 unrelated families (602218.0003). Five of the mutations were short deletions. All of the mutations were located 5-prime of the first double zinc finger (DZF)-encoding region and were therefore predicted to result in prematurely terminated proteins lacking all DZF domains. This suggested that only those SALL1 mutations that remove the DZF domains result in TBS. Kohlhase et al. (1999) also presented evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome (164210); see 602218.0005. On the whole, however, phenotypic differences in TBS did not seem to depend on the site of the mutation within the gene. </p><p>Marlin et al. (1999) searched for SALL1 mutations in 11 unrelated individuals with TBS (5 familial and 6 sporadic) and detected a mutation in 9 of them. One nonsense and 6 different novel frameshift mutations, all located in the second exon, were identified. Together with the previously reported mutations, the new information established that TBS results from haploinsufficiency. The finding of de novo mutations in the sporadic cases was consistent with the proposed complete penetrance of the disorder. Moreover, the occurrence of the same 826C-T transition in a CG dimer, in 3 sporadic cases from the present series and 3 sporadic cases from the series of Kohlhase et al. (1999), representing 6 of the 8 mutations identified in sporadic cases, revealed the existence of a mutation hotspot. </p><p>The occurrence of a balanced translocation t(5;16)(p15.3;q12.1) in a child with Townes-Brocks syndrome had permitted assignment of the causative gene to 16q12.1 (Serville et al., 1993). Marlin et al. (1999) found no modification of the SALL1 gene in this patient. Further studies indicated that the breakpoint was at least 180 kb telomeric to SALL1, thus indicating that a position effect underlay the disease in this patient. </p><p>Kohlhase (2000) stated that 19 of the 20 known SALL1 mutations were located in exon 2, 5-prime of the third double zinc finger-encoding region. These are nonsense mutations, short insertions, and short deletions, as well as 1 gross intraexonic deletion. One mutation within intron 2 created an aberrant splice site. Most mutations led to preterminal stop codons and were thought to cause the phenotype of Townes-Brocks syndrome via haploinsufficiency. However, one short deletion resulted in a phenotype different from TBS and may have been produced by a dominant-negative effect of a truncated SALL1 protein. </p><p>In a father and 2 daughters with a disorder showing phenotypic overlap between Townes-Brocks syndrome (107480) and branchiootorenal dysplasia (113650), Engels et al. (2000) identified a mutation in the SALL1 gene (602218.0007). </p><p>Keegan et al. (2001) analyzed the SALL1 gene in 4 patients with hemifacial microsomia-expanded spectrum and anal anomalies (see 164210) and identified the R276X mutation (602218.0003) in 1 patient. The authors suggested that patients with overlapping features of both Townes-Brock syndrome and hemifacial microsomia-expanded spectrum should be screened for SALL1 mutations. </p><p>In 3 members of a nonconsanguineous German family who exhibited only some features of Townes-Brocks syndrome (see 107480), with intrafamilial variation, Albrecht et al. (2004) identified a mutation in the SALL1 gene (602218.0009). </p><p>Botzenhart et al. (2005) stated that 35 mutations had been identified in the SALL1 gene. Most mutations occur 5-prime to or within the region encoding the first double zinc finger. </p><p>Bohm et al. (2006) traced the parental origin of SALL1 mutations in sporadic TBS by analysis of linkage between SALL1 mutations and exonic or intronic polymorphisms in 16 families with 10 different mutations. Mutations were of paternal origin in 14 (87.5%) of 16 cases, independent of mutation type and with no obvious paternal age effect. </p><p>Kosaki et al. (2007) analyzed the SALL1 gene in 2 sisters, 1 with a Townes-Brocks syndrome phenotype and the other exhibiting some features of Goldenhar syndrome (164210), and identified heterozygosity for a mutation (L419X; 602218.0010). Their mother, who had dysplastic external ears but was otherwise normal, also carried the mutation. </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>Si Dong et al. (2003) examined the effect of losing both of the spalt genes (spalt and spalt-related) in the Drosophila melanogaster, and reported defects similar to those in humans with Townes-Brocks syndrome. Loss of both spalt and spalt-related function in flies yielded morphologic defects in the testes, genitalia, and antenna. Furthermore, spalt/spalt-related mutant antennae showed severe reduction in Johnston's organ, the major auditory organ in Drosophila. Electrophysiologic analyses confirmed that spalt/spalt-related mutant flies are deaf. These commonalities suggested that there is functional conservatism for spalt genes between vertebrates and insects. </p><p>Mutations in SALL1 have been postulated to cause TBS by haploinsufficiency; however, Nishinakamura et al. (2001) reported a mouse model carrying a Sall1 null allele which did not mimic the human syndrome. Kiefer et al. (2003) created a mutant murine Sall1 allele that produced a truncated protein and recapitulated the abnormalities found in human TBS. Heterozygous mice mimicked TBS patients by displaying high-frequency sensorineural hearing loss, renal cystic hypoplasia, and wrist bone abnormalities. Homozygous mutant mice exhibited more severe defects than Sall1 null mice, including complete renal agenesis, exencephaly, and limb and anal deformities. Truncated Sall1 mediated interaction with all Sall family members and could therefore interfere with the normal function of all Sall proteins. The authors proposed a model for the pathogenesis of TBS in which expression of truncated SALL1 protein causes abnormal development of multiple organs, either due to dominant-negative or gain-of-function activity of the mutant protein. </p><p>In Sall1-mutant transgenic mice, Kiefer et al. (2008) showed that mutant Sall1 protein alone is sufficient to cause limb phenotypes that are characteristic of TBS patients. Using a B-cell line from a patient with the R276X mutation, the authors demonstrated expression of truncated SALL1 protein, indicating that the same pathogenetic mechanism occurs in humans. Kiefer et al. (2008) also found that TBS mutant protein is capable of dominant-negative activity that results in ectopic activation of 2 downstream genes, Nppa (108780) and Shox2 (602504), in the developing mouse heart and limb, and proposed a model for TBS pathogenesis in which truncated SALL1 protein causes derepression of SALL-responsive target genes. </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>12 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 TOWNES-BROCKS 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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SALL1, 1-BP DEL, 1268C
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<br />
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SNP: rs1597230349,
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ClinVar: RCV000007851
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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 the mother and a daughter and son by different fathers had TBS (107480), Kohlhase et al. (1998) demonstrated that affected individuals were heterozygous for deletion of 1377C. The mutation was predicted to cause a frameshift, resulting in a putatively prematurely terminated SALL1 protein lacking all double zinc finger domains. Subsequently, with a revised number system, Kohlhase et al. (1999) designated this mutation as 1268delC. </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 TOWNES-BROCKS 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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SALL1, 1115C-A, SER372TER
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<br />
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SNP: rs104894535,
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ClinVar: RCV000007852
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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 sporadic case of TBS (107480), Kohlhase et al. (1998) found a heterozygous 1222C-A transversion, converting a serine codon (TCA) to a stop codon. Subsequently, using a revised numbering system, Kohlhase et al. (1999) designated this mutation as 1115C-A and the amino acid change as ser372 to ter (S372X). Notably the same nucleotide and amino acid were involved in the 1115C-G mutation (602218.0004). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 TOWNES-BROCKS 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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SALL1, ARG276TER
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<br />
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SNP: rs104894537,
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gnomAD: rs104894537,
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ClinVar: RCV000007853, RCV000792529, RCV003221781
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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 3 presumably unrelated families, Kohlhase et al. (1999) found that TBS (107480) was associated with a heterozygous 826C-T mutation, resulting in change of an arginine to a stop codon (arg276 to ter; R276X). All affected children had 'sporadic' TBS and all clinically unaffected parents did not show the mutation. Marlin et al. (1999) found the same 826C-T transition in a CG dimer in 3 sporadic cases. The finding of the same mutation in 6 sporadic cases indicates the existence of a specific mutation hotspot. </p><p>Keegan et al. (2001) identified this mutation in a patient previously diagnosed with hemifacial microsomia-expanded spectrum (see 164210). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 TOWNES-BROCKS 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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SALL1, 1115C-G, SER372TER
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<br />
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SNP: rs104894535,
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ClinVar: RCV000007854
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a case of Townes-Brocks syndrome (107480), Kohlhase et al. (1999) found a C-to-G transversion at nucleotide 1115, causing a change of a serine to a stop codon (ser372 to ter; S372X). The nucleotide involved in this case is the same as that involved in a previously reported mutation, 1115C-A (602218.0002), which caused the same S372X change. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 TOWNES-BROCKS 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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SALL1, 2-BP DEL, NT1277
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<br />
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SNP: rs1597230341,
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ClinVar: RCV000007855
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Kohlhase et al. (1999) demonstrated a 2-bp deletion in the SALL1 gene in a girl reported by Gabrielli et al. (1993) as presenting features of both Goldenhar syndrome (164210) and Townes-Brocks syndrome (107480). </p>
|
|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 TOWNES-BROCKS SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
SALL1, 2-BP DEL, 1347CA
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<br />
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SNP: rs1597230241,
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ClinVar: RCV000007856
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a screening of 11 unrelated individuals with Townes-Brocks syndrome (107480), Marlin et al. (1999) identified a 2-bp deletion, 1347-1348delCA, causing a frameshift in the SALL1 protein. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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SALL1, 1-BP DEL, 1819G
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<br />
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SNP: rs1597229721,
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ClinVar: RCV000007857
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Engels et al. (2000) described a father and his 2 affected daughters who had phenotypic features which overlapped those of Townes-Brocks syndrome (107480) and branchiootorenal syndrome (113650). A heterozygous 1-bp deletion was found at nucleotide 1819 in exon 2 of the SALL1 gene between the coding regions for the first and second double zinc finger unit. Engels et al. (2000) proposed that this mutation may result in a truncated protein rather than an unstable mRNA, causing the variant phenotype seen in these patients. The daughters had dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, and mild developmental delay. The father showed impaired renal function, dysplastic ears, and gastroesophageal reflux. The affected individuals lacked abnormalities of the anus or thumbs. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 TOWNES-BROCKS 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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SALL1, 2-BP DEL, 792GC
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<br />
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|
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SNP: rs1597230909,
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ClinVar: RCV000007858
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family in which 7 individuals in 4 sibships in 3 generations had Townes-Brocks syndrome (107480), Surka et al. (2001) found a heterozygous mutation of SALL1: a 2-bp deletion at nucleotides 792-293 in exon 2 of the SALL1 gene, resulting in a frameshift and a truncated protein lacking all double zinc finger domains presumed to be essential for gene function. </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>.0009 TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SALL1, GLN323TER
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<br />
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SNP: rs104894538,
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ClinVar: RCV000007859, RCV000697040, RCV000989601
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 members of a nonconsanguineous German family who had only some features of Townes-Brocks syndrome (see 107480), Albrecht et al. (2004) identified a heterozygous 967C-T transition, resulting in a gln323-to-ter substitution (Q323X) that predicts a prematurely terminated protein lacking all double zinc finger domains or no protein at all. Characteristic features of TBS included preauricular tags, overfolded helices, hypospadias, and impaired renal function; 1 brother had only hypospadias and underriding third toes. None of the affected family members had the characteristic anal or hand malformations of TBS. Albrecht et al. (2004) noted the similarity between their patients and the patients reported by Engels et al. (2000) with features overlapping Townes-Brocks syndrome and branchiootorenal syndrome (113650); see 602218.0007. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 TOWNES-BROCKS 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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SALL1, LEU419TER
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<br />
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SNP: rs137853084,
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gnomAD: rs137853084,
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ClinVar: RCV000007860
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
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<p>In 2 sisters, 1 with a Townes-Brocks syndrome phenotype (107480) and the other exhibiting some features of Goldenhar syndrome, Kosaki et al. (2007) identified heterozygosity for a 1256T-A transversion in the SALL1 gene, resulting in a leu419-to-ter (L419X) substitution predicted to cause loss of all double-zinc finger domains. Their mother, who had only dysplastic ears, was also heterozygous for the mutation. The sisters were also heterozygous for P270L, a known polymorphism in the SALL1 gene, which they inherited from their unaffected father. </p>
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</span>
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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>.0011 TOWNES-BROCKS 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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SALL1, 1-BP DEL, 995C
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<br />
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SNP: rs1597230687,
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ClinVar: RCV000007862
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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 Townes-Brocks syndrome (107480), Furniss et al. (2007) reported a heterozygous 1-bp deletion (995delC) in exon 2 of the SALL1 gene, resulting in a frameshift and premature termination. The patient had bilateral preaxial polydactyly, imperforate anus, rectal atresia, hypospadias, and overfolded helices. The mutation was found to be resistant to nonsense-mediated decay. Furniss et al. (2007) concluded that the phenotype was caused by a truncated SALL1 protein acting in a dominant-negative manner. These findings were in contrast to another SALL1 mutation (602218.0012) that did undergo nonsense-mediated decay and was associated with a milder phenotype. </p>
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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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<h4>
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<span class="mim-font">
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<strong>.0012 TOWNES-BROCKS 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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SALL1, 2-BP DEL, 3414AT
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<br />
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SNP: rs1064793257,
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ClinVar: RCV000007863, RCV000486755, RCV000526857, RCV004751556
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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 Townes-Brocks syndrome (107480), Furniss et al. (2007) reported a heterozygous 2-bp deletion (3414delAT) in the SALL1 gene, resulting in a frameshift and premature termination. The patient had a relatively mild phenotype, with 1 limb affected by preaxial polydactyly and a triphalangeal thumb. The mutation was found to undergo nonsense-mediated decay, which the authors postulated may have accounted for the relatively mild phenotype by eliminating a possible dominant-negative effect. See also 602218.0011. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Albrecht, B., Liebers, M., Kohlhase, J.
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<strong>Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)</strong>
|
|
Am. J. Med. Genet. 125A: 102-104, 2004.
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[PubMed: 14755477]
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[Full Text: https://doi.org/10.1002/ajmg.a.20484]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bohm, J., Munk-Schulenburg, S., Felscher, S., Kohlhase, J.
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<strong>SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.</strong>
|
|
Am. J. Med. Genet. 140A: 1904-1908, 2006.
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[PubMed: 16892410]
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[Full Text: https://doi.org/10.1002/ajmg.a.31383]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Botzenhart, E. M., Green, A., Ilyina, H., Konig, R., Lowry, R. B., Lo, I. F. M., Shohat, M., Burke, L., McGaughran, J., Chafai, R., Pierquin, G., Michaelis, R. C., Whiteford, M. L., Simola, K. O. J., Rosler, B., Kohlhase, J.
|
|
<strong>SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.</strong>
|
|
Hum. Mutat. 26: 282, 2005. Note: Electronic Article.
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[PubMed: 16088922]
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[Full Text: https://doi.org/10.1002/humu.9362]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R.
|
|
<strong>Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.</strong>
|
|
Am. J. Hum. Genet. 102: 249-265, 2018.
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[PubMed: 29395072]
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[Full Text: https://doi.org/10.1016/j.ajhg.2017.12.017]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Buck, A., Archangelo, L., Dixkens, C., Kohlhase, J.
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<strong>Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1.</strong>
|
|
Cytogenet. Cell Genet. 89: 150-153, 2000.
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[PubMed: 10965108]
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[Full Text: https://doi.org/10.1159/000015598]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Chai, L., Yang, J., Di, C., Cui, W., Kawakami, K., Lai, R., Ma, Y.
|
|
<strong>Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.</strong>
|
|
J. Biol. Chem. 281: 18918-18926, 2006.
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|
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[PubMed: 16670092]
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[Full Text: https://doi.org/10.1074/jbc.M600180200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Engels, S., Kohlhase, J., McGaughran, J.
|
|
<strong>A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)</strong>
|
|
J. Med. Genet. 37: 458-460, 2000.
|
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|
|
[PubMed: 10928856]
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[Full Text: https://doi.org/10.1136/jmg.37.6.458]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M.
|
|
<strong>Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.</strong>
|
|
Am. J. Med. Genet. 143A: 3150-3160, 2007.
|
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|
|
[PubMed: 18000979]
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[Full Text: https://doi.org/10.1002/ajmg.a.32097]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gabrielli, O., Bonifazi, V., Offidani, A. M., Cellini, A., Coppa, G. V., Giorgi, P. L.
|
|
<strong>Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?</strong>
|
|
Minerva Pediat. 45: 459-462, 1993.
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|
|
[PubMed: 8133838]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Keegan, C. E., Mulliken, J. B., Wu, B.-L., Korf, B. R.
|
|
<strong>Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a 'hot spot' for mutation in the SALL1 gene.</strong>
|
|
Genet. Med. 3: 310-313, 2001.
|
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|
|
[PubMed: 11478532]
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|
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[Full Text: https://doi.org/10.1097/00125817-200107000-00007]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kiefer, S. M., Ohlemiller, K. K., Yang, J., McDill, B. W., Kohlhase, J., Rauchman, M.
|
|
<strong>Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.</strong>
|
|
Hum. Molec. Genet. 12: 2221-2227, 2003.
|
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|
|
[PubMed: 12915476]
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[Full Text: https://doi.org/10.1093/hmg/ddg233]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kiefer, S. M., Robbins, L., Barina, A., Zhang, Z., Rauchman, M.
|
|
<strong>SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.</strong>
|
|
Hum. Mutat. 29: 1133-1140, 2008.
|
|
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|
|
[PubMed: 18470945]
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[Full Text: https://doi.org/10.1002/humu.20759]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kohlhase, J., Schuh, R., Dowe, G., Kuhnlein, R. P., Jackle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Kohler, A., Muller, U., Raab-Vetter, M., Burkhardt, E., Engel, W., Stick, R.
|
|
<strong>Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.</strong>
|
|
Genomics 38: 291-298, 1996.
|
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|
|
[PubMed: 8975705]
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|
|
[Full Text: https://doi.org/10.1006/geno.1996.0631]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., Seidel, J., Kirkpatrick, S. J., and 12 others.
|
|
<strong>Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.</strong>
|
|
Am. J. Hum. Genet. 64: 435-445, 1999.
|
|
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|
|
|
[PubMed: 9973281]
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|
|
[Full Text: https://doi.org/10.1086/302238]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W.
|
|
<strong>Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.</strong>
|
|
Nature Genet. 18: 81-83, 1998.
|
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|
|
[PubMed: 9425907]
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[Full Text: https://doi.org/10.1038/ng0198-81]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Kohlhase, J.
|
|
<strong>SALL1 mutations in Townes-Brocks syndrome and related disorders.</strong>
|
|
Hum. Mutat. 16: 460-466, 2000.
|
|
|
|
|
|
[PubMed: 11102974]
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[Full Text: https://doi.org/10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kosaki, R., Fujimaru, R., Samejima, H., Yamada, H., Izumi, K., Iijima, K., Kosaki, K.
|
|
<strong>Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome.</strong>
|
|
Am. J. Med. Genet. 143A: 1087-1090, 2007.
|
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|
|
[PubMed: 17431915]
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[Full Text: https://doi.org/10.1002/ajmg.a.31700]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Marlin, S., Blanchard, S., Slim, R., Lacombe, D., Denoyelle, F., Alessandri, J.-L., Calzolari, E., Drouin-Garraud, V., Ferraz, F. G., Fourmaintraux, A., Philip, N., Toublanc, J.-E., Petit, C.
|
|
<strong>Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.</strong>
|
|
Hum. Mutat. 14: 377-386, 1999.
|
|
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|
|
[PubMed: 10533063]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Netzer, C., Rieger, L., Brero, A., Zhang, C.-D., Hinzke, M., Kohlhase, J., Bohlander, S. K.
|
|
<strong>SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.</strong>
|
|
Hum. Molec. Genet. 10: 3017-3024, 2001.
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|
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[PubMed: 11751684]
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[Full Text: https://doi.org/10.1093/hmg/10.26.3017]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nishinakamura, R., Matsumoto, Y., Nakao, K., Nakamura, K., Sato, A., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Scully, S., Lacey, D. L., Katsuki, M., Asashima, M., Yokota, T.
|
|
<strong>Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development.</strong>
|
|
Development 128: 3105-3115, 2001.
|
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|
|
[PubMed: 11688560]
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[Full Text: https://doi.org/10.1242/dev.128.16.3105]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P.
|
|
<strong>Townes-Brocks syndrome in an infant with translocation t(5;16).</strong>
|
|
Genet. Counsel. 4: 109-112, 1993.
|
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|
|
[PubMed: 8357560]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Si Dong, P. D., Todi, S. V., Eberl, D. F., Boekhoff-Falk, G.
|
|
<strong>Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 10293-10298, 2003.
|
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|
|
[PubMed: 12925729]
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[Full Text: https://doi.org/10.1073/pnas.1836391100]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K.
|
|
<strong>Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.</strong>
|
|
Am. J. Med. Genet. 102: 250-257, 2001.
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|
|
[PubMed: 11484202]
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[Full Text: https://doi.org/10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 06/19/2018<br>Patricia A. Hartz - updated : 1/6/2011<br>Marla J. F. O'Neill - updated : 10/20/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Marla J. F. O'Neill - updated : 2/1/2008<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Cassandra L. Kniffin - updated : 1/3/2006<br>Marla J. F. O'Neill - updated : 5/18/2004<br>George E. Tiller - updated : 3/16/2004<br>Victor A. McKusick - updated : 10/9/2003<br>George E. Tiller - updated : 8/20/2002<br>Ada Hamosh - updated : 8/30/2001<br>Victor A. McKusick - updated : 8/27/2001<br>Michael J. Wright - updated : 7/23/2001<br>Carol A. Bocchini - updated : 1/16/2001<br>Victor A. McKusick - updated : 1/2/2001<br>Victor A. McKusick - updated : 12/10/1999<br>Victor A. McKusick - updated : 2/5/1999<br>Jennifer P. Macke - updated : 2/9/1998
|
|
</span>
|
|
</div>
|
|
</div>
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Victor A. McKusick : 12/29/1997
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carol : 05/24/2022<br>alopez : 06/19/2018<br>carol : 10/01/2014<br>carol : 10/1/2014<br>carol : 9/10/2013<br>mgross : 1/12/2011<br>terry : 1/6/2011<br>wwang : 12/3/2009<br>wwang : 10/27/2009<br>terry : 10/20/2009<br>carol : 2/10/2009<br>ckniffin : 1/12/2009<br>wwang : 2/7/2008<br>terry : 2/1/2008<br>wwang : 10/26/2006<br>terry : 10/25/2006<br>wwang : 1/11/2006<br>wwang : 1/10/2006<br>ckniffin : 1/3/2006<br>joanna : 6/30/2004<br>carol : 6/29/2004<br>carol : 5/19/2004<br>carol : 5/19/2004<br>terry : 5/18/2004<br>tkritzer : 3/16/2004<br>cwells : 10/9/2003<br>cwells : 8/20/2002<br>cwells : 9/14/2001<br>cwells : 8/30/2001<br>cwells : 8/30/2001<br>carol : 8/27/2001<br>alopez : 7/27/2001<br>terry : 7/23/2001<br>terry : 1/16/2001<br>carol : 1/16/2001<br>carol : 1/12/2001<br>cwells : 1/11/2001<br>terry : 1/2/2001<br>carol : 6/27/2000<br>mcapotos : 12/15/1999<br>mcapotos : 12/13/1999<br>terry : 12/10/1999<br>terry : 12/10/1999<br>mgross : 3/10/1999<br>mgross : 2/12/1999<br>mgross : 2/9/1999<br>terry : 2/5/1999<br>dholmes : 2/9/1998<br>dholmes : 2/9/1998<br>terry : 12/29/1997<br>alopez : 12/23/1997<br>alopez : 12/23/1997<br>alopez : 12/23/1997
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