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- *601622 - TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1; TWIST1
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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">*601622</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601622">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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 id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000122691;t=ENST00000242261" 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=7291" 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=601622" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000122691;t=ENST00000242261" 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_000474,NR_149001" 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_000474" 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=601622" 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=03374&isoform_id=03374_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/TWIST1" 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/999456,1495423,1769550,1924948,2498009,4507741,22477152,37674396,51095035,119614117" 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/Q15672" 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=7291" 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=ENSG00000122691;t=ENST00000242261" 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=TWIST1" 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=TWIST1" 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+7291" 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/TWIST1" 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:7291" 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/7291" 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=chr7&hgg_gene=ENST00000242261.6&hgg_start=19113047&hgg_end=19117636&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 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:12428" 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://search.clinicalgenome.org/kb/genes/HGNC:12428" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/twist1" 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=601622[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=601622[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/TWIST1/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/ENSG00000122691" 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=TWIST1" 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=TWIST1" 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=TWIST1" 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=TWIST1&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/PA37088" 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:12428" 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/FBgn0003900.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:98872" 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/TWIST1#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:98872" 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/7291/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA001593/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=7291" 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=WBGene00001953;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-000210-6" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7291" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TWIST1&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> 83015004<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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601622
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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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TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1; TWIST1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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TWIST, DROSOPHILA, HOMOLOG OF, 1<br />
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TRANSCRIPTION FACTOR TWIST; TWIST
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TWIST1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TWIST1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/7/93?start=-3&limit=10&highlight=93">7p21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:19113047-19117636&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'})">7:19,113,047-19,117,636</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=123100,180750,101400,617746" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
</th>
|
|
<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>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
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|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/93?start=-3&limit=10&highlight=93">
|
|
7p21.1
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Craniosynostosis 1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/123100"> 123100 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Robinow-Sorauf syndrome
|
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</span>
|
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</td>
|
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<td>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>TWIST1 belongs to the basic helix-loop-helix (bHLH) class of transcriptional regulators that recognize a consensus DNA element called the E box (<a href="#29" class="mim-tip-reference" title="Pan, D., Fujimoto, M., Lopes, A., Wang, Y.-X. <strong>Twist-1 is a PPAR-delta-inducible, negative-feedback regulator of PGC-1-alpha in brown fat metabolism.</strong> Cell 137: 73-86, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19345188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19345188</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19345188[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.cell.2009.01.051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19345188">Pan et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19345188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By PCR of a placenta cDNA library using primers based on mouse Twist, <a href="#3" class="mim-tip-reference" title="Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F. <strong>The human H-twist gene is located at 7p21 and encodes a b-HLH protein that is 96% similar to its murine M-twist counterpart.</strong> Mammalian Genome 7: 915-917, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995765</a>] [<a href="https://doi.org/10.1007/s003359900269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8995765">Bourgeois et al. (1996)</a> cloned human TWIST. The deduced 206-amino acid protein contains a central DNA-binding basic region followed by a helix-loop-helix domain. Mouse and human TWIST share 96.6% amino acid identity. In vitro-translated TWIST had an apparent molecular mass of 25 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8995765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By selecting genes overexpressed in young quiescent human fibroblasts compared with senescent cells, followed by database analysis and screening a genomic library, <a href="#41" class="mim-tip-reference" title="Wang, S. M., Coljee, V. W., Pignolo, R. J., Rotenberg, M. O., Cristofalo, V. J., Sierra, F. <strong>Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues.</strong> Gene 187: 83-92, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9073070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9073070</a>]" pmid="9073070">Wang et al. (1997)</a> cloned TWIST1. The deduced protein contains 201 amino acids and has a calculated molecular mass of 20.9 kD. It has a hydrophilic N terminus, followed by a bHLH DNA-binding and dimerization motif. It also contains several potential phosphorylation sites, including 2 in the loop region of the dimerization domain that are conserved among all species examined. TWIST orthologs were detected in all mammalian species examined, and within mammals, the DNA-binding region showed 100% sequence conservation. A possible ortholog was also detected in chicken, but not in yeast. Northern blot analysis detected a 1.6-kb transcript that was highly expressed in placenta. Lower expression was detected in adult heart and skeletal muscle, and weak expression was found in kidney and pancreas, but not in brain. Expression was detected in endometrial fibroblasts, peritoneal mesothelial cells, and fetal lung fibroblasts, but not in other cell lines examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9073070" 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="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> indicated that the TWIST gene contains 2 exons and 1 intron of 538 bp. The single coding exon (exon 1) has 772 bp. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988167" 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="#41" class="mim-tip-reference" title="Wang, S. M., Coljee, V. W., Pignolo, R. J., Rotenberg, M. O., Cristofalo, V. J., Sierra, F. <strong>Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues.</strong> Gene 187: 83-92, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9073070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9073070</a>]" pmid="9073070">Wang et al. (1997)</a> identified 2 putative TATA boxes within the promoter region of the TWIST1 gene, but only the more proximal TATA box appeared to be functional. They also identified several potential transcription factor-binding sites in the TWIST1 promoter region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9073070" 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="#3" class="mim-tip-reference" title="Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F. <strong>The human H-twist gene is located at 7p21 and encodes a b-HLH protein that is 96% similar to its murine M-twist counterpart.</strong> Mammalian Genome 7: 915-917, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995765</a>] [<a href="https://doi.org/10.1007/s003359900269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8995765">Bourgeois et al. (1996)</a> used isotopic in situ hybridization to map the TWIST1 gene to chromosome 7p21. The murine gene had been mapped to bands B-C1 of chromosome 12 by <a href="#25" class="mim-tip-reference" title="Mattei, M. G., Stoetzel, C., Perrin-Schmitt, F. <strong>The B-HLH protein encoding the M-twist gene is located by in situ hybridization on murine chromosome 12.</strong> Mammalian Genome 4: 127-128, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8431638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8431638</a>] [<a href="https://doi.org/10.1007/BF00290439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8431638">Mattei et al. (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8995765+8431638" 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>Studies in Drosophila by <a href="#35" class="mim-tip-reference" title="Shishido, E., Higashijima, S., Emori, Y., Saigo, K. <strong>Two FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos.</strong> Development 117: 751-761, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8330538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8330538</a>] [<a href="https://doi.org/10.1242/dev.117.2.751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8330538">Shishido et al. (1993)</a> indicated that Twist may affect the transcription of fibroblast growth factor receptors (FGFRs; see <a href="/entry/136350">136350</a>), a gene family implicated in craniosynostosis. The emerging cascade of molecular components involved in craniofacial and limb development included TWIST, which may function as an upstream regulator of FGFRs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8330538" 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>Histone acetyltransferases (HATs) play a critical role in transcriptional control by relieving repressive effects of chromatin (<a href="#38" class="mim-tip-reference" title="Struhl, K. <strong>Histone acetylation and transcriptional regulatory mechanisms.</strong> Genes Dev. 12: 599-606, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9499396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9499396</a>] [<a href="https://doi.org/10.1101/gad.12.5.599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9499396">Struhl, 1998</a>). <a href="#18" class="mim-tip-reference" title="Hamamori, Y., Sartorelli, V., Ogryzko, V., Puri, P. L., Wu, H.-Y., Wang, J. Y. J., Nakatani, Y., Kedes, L. <strong>Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein Twist and adenoviral oncoprotein E1A.</strong> Cell 96: 405-413, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10025406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10025406</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80553-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10025406">Hamamori et al. (1999)</a> showed that Twist directly binds 2 independent HAT domains of acetyltransferases, p300 (<a href="/entry/602700">602700</a>) and p300/CBP-associated factor (PCAF; <a href="/entry/602303">602303</a>), and directly regulates their HAT activities. The N terminus of Twist is a primary domain interacting with both acetyltransferases, and the same domain is required for inhibition of p300-dependent transcription by Twist. Adenovirus E1A protein mimicked the effects of Twist by inhibiting the HAT activities of p300 and PCAF. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10025406+9499396" 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 electrophoretic mobility shift assays, <a href="#13" class="mim-tip-reference" title="El Ghouzzi, V., Legeai-Mallet, L., Benoist-Lasselin, C., Lajeunie, E., Renier, D., Munnich, A., Bonaventure, J. <strong>Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.</strong> FEBS Lett. 492: 112-118, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11248247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11248247</a>] [<a href="https://doi.org/10.1016/s0014-5793(01)02238-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11248247">El Ghouzzi et al. (2001)</a> demonstrated that the TWIST-E12 (TCF3; <a href="/entry/147141">147141</a>) dimer specifically recognizes the CATATG motif. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11248247" 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="#36" class="mim-tip-reference" title="Sosic, D., Richardson, J. A., Yu, K., Ornitz, D. M., Olson, E. N. <strong>Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappa-B activity.</strong> Cell 112: 169-180, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12553906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12553906</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00002-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12553906">Sosic et al. (2003)</a> showed that Twist and Dermo1 (<a href="/entry/607556">607556</a>), which they called Twist1 and Twist2, respectively, were induced by a cytokine signaling pathway that required the dorsal-related protein Rela (<a href="/entry/164014">164014</a>), a member of the nuclear factor kappa-B (NFKB; see <a href="/entry/164011">164011</a>) family of transcription factors, in mice. Twist1 and Twist2 repressed cytokine gene expression through interaction with Rela. Mice homozygous for a Twist2 null allele or doubly heterozygous for Twist1 and Twist2 alleles showed elevated expression of proinflammatory cytokines, resulting in perinatal death from cachexia. <a href="#36" class="mim-tip-reference" title="Sosic, D., Richardson, J. A., Yu, K., Ornitz, D. M., Olson, E. N. <strong>Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappa-B activity.</strong> Cell 112: 169-180, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12553906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12553906</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00002-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12553906">Sosic et al. (2003)</a> concluded that there is an evolutionarily conserved signaling circuit in which TWIST proteins regulate cytokine signaling by establishing a negative feedback loop that represses the NFKB-dependent cytokine pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12553906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bialek, P., Kern, B., Yang, X., Schrock, M., Sosic, D., Hong, N., Wu, H., Yu, K., Ornitz, D. M., Olson, E. N., Justice, M. J., Karsenty, G. <strong>A Twist code determines the onset of osteoblast differentiation.</strong> Dev. Cell 6: 423-435, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15030764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15030764</a>] [<a href="https://doi.org/10.1016/s1534-5807(04)00058-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15030764">Bialek et al. (2004)</a> determined that the Twist proteins transiently inhibit Runx2 (<a href="/entry/600211">600211</a>) function during skeletal development in mice. Twist1 and Twist2 were expressed in Runx2-expressing cells throughout the skeleton early during development, and osteoblast-specific gene expression occurred only after their expression decreased. Double heterozygotes for Twist1 and Runx2 deletion showed none of the skull abnormalities observed in Runx2 +/- mice, a Twist2 null background rescued the clavicle phenotype of Runx2 +/- mice, and Twist1 or Twist2 deficiency led to premature osteoblast differentiation. The antiosteogenic function of the Twist proteins was mediated by a domain <a href="#1" class="mim-tip-reference" title="Bialek, P., Kern, B., Yang, X., Schrock, M., Sosic, D., Hong, N., Wu, H., Yu, K., Ornitz, D. M., Olson, E. N., Justice, M. J., Karsenty, G. <strong>A Twist code determines the onset of osteoblast differentiation.</strong> Dev. Cell 6: 423-435, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15030764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15030764</a>] [<a href="https://doi.org/10.1016/s1534-5807(04)00058-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15030764">Bialek et al. (2004)</a> called the Twist box, which interacted with the Runx2 DNA-binding domain to inhibit its function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15030764" 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 a murine breast tumor model, <a href="#45" class="mim-tip-reference" title="Yang, J., Mani, S. A., Donaher, J. L., Ramaswamy, S., Itzykson, R. A., Come, C., Savagner, P., Gitelman, I., Richardson, A., Weinberg, R. A. <strong>Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis.</strong> Cell 117: 927-939, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15210113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15210113</a>] [<a href="https://doi.org/10.1016/j.cell.2004.06.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15210113">Yang et al. (2004)</a> determined that Twist plays an essential role in metastasis. Suppression of Twist expression in highly metastatic mammary carcinoma cells specifically inhibited their ability to metastasize from the mammary gland to the lung. Ectopic expression of Twist resulted in loss of E-cadherin (<a href="/entry/192090">192090</a>)-mediated cell-cell adhesion, activation of mesenchymal markers, and induction of cell motility, suggesting that Twist contributes to metastasis by promoting an epithelial-mesenchymal transition. In human breast cancers, high Twist expression correlated with invasive lobular carcinoma, a highly infiltrating tumor type associated with loss of E-cadherin expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15210113" 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="#14" class="mim-tip-reference" title="Firulli, B. A., Krawchuk, D., Centonze, V. E., Vargesson, N., Virshup, D. M., Conway, S. J., Cserjesi, P., Laufer, E., Firulli, A. B. <strong>Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.</strong> Nature Genet. 37: 373-381, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15735646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735646">Firulli et al. (2005)</a> investigated the biochemical and genetic interactions between Twist1 and Hand2 (<a href="/entry/602407">602407</a>) both in vitro and during limb development in the chick and mouse. They showed that ectopic expression of the related basic helix-loop-helix factor Hand2 phenocopies Twist1 loss of function in the limb and that the 2 factors have a gene dosage-dependent antagonistic interaction. Dimerization partner choice by Twist1 and Hand2 can be modulated by protein kinase A (see <a href="/entry/176911">176911</a>)- and protein phosphatase 2A (see <a href="/entry/176915">176915</a>)-regulated phosphorylation of conserved helix I residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735646" 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="#37" class="mim-tip-reference" title="Stasinopoulos, I. A., Mironchik, Y., Raman, A., Wildes, F., Winnard, P., Jr., Raman, V. <strong>HOXA5-Twist interaction alters p53 homeostasis in breast cancer cells.</strong> J. Biol. Chem. 280: 2294-2299, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15545268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15545268</a>] [<a href="https://doi.org/10.1074/jbc.M411018200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15545268">Stasinopoulos et al. (2005)</a> found that HOXA5 (<a href="/entry/142952">142952</a>) bound TWIST. Using a p53 (TP53; <a href="/entry/191170">191170</a>) promoter reporter system in a human TWIST-expressing breast carcinoma cell line, they found that TWIST suppressed p53 activity and that HOXA5 coexpression largely reversed this suppression. TWIST overexpression altered p53 phosphorylation and cell cycle progression in response to radiation. These effects were partially reversed by TWIST-specific small interfering RNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15545268" 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="#7" class="mim-tip-reference" title="Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., Spicer, D. B. <strong>Twist1 dimer selection regulates cranial suture patterning and fusion.</strong> Dev. Dyn. 235: 1345-1357, 2006. Note: Erratum: Dev. Dyn. 241: 433 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16502419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16502419</a>] [<a href="https://doi.org/10.1002/dvdy.20717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16502419">Connerney et al. (2006)</a> showed that the activity of TWIST1 in human and mouse cell lines was dependent on its dimer partner. TWIST1 formed both homodimers (T/T) and heterodimers with E2A E proteins (T/E), and the relative level of TWIST1 to the HLH inhibitor Id proteins (see ID1; <a href="/entry/600349">600349</a>) determined which dimer formed. On the basis of expression patterns of Twist1 and Id1 within mouse cranial sutures, <a href="#7" class="mim-tip-reference" title="Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., Spicer, D. B. <strong>Twist1 dimer selection regulates cranial suture patterning and fusion.</strong> Dev. Dyn. 235: 1345-1357, 2006. Note: Erratum: Dev. Dyn. 241: 433 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16502419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16502419</a>] [<a href="https://doi.org/10.1002/dvdy.20717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16502419">Connerney et al. (2006)</a> hypothesized that Twist1 forms T/T homodimers in osteogenic fronts and T/E heterodimers in midsutures. In support of this hypothesis, they found that genes regulated by T/T homodimers, such as Fgfr2 and periostin (POSTN; <a href="/entry/608777">608777</a>), were expressed in osteogenic fronts, whereas genes regulated by T/E heterodimers, such as thrombospondin-1 (THBS1; <a href="/entry/188060">188060</a>), were expressed in the midsutures. The ratio between T/T homodimers and T/E heterodimers was altered in the sutures of Twist1 +/- mice, favoring an increase in homodimers and an expansion of osteogenic fronts. In addition, the T/T to T/E ratio was greater in coronal versus sagittal sutures, which the authors suggested may contribute to making the coronal suture more susceptible to fusion due to Twist1 haploinsufficiency. <a href="#7" class="mim-tip-reference" title="Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., Spicer, D. B. <strong>Twist1 dimer selection regulates cranial suture patterning and fusion.</strong> Dev. Dyn. 235: 1345-1357, 2006. Note: Erratum: Dev. Dyn. 241: 433 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16502419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16502419</a>] [<a href="https://doi.org/10.1002/dvdy.20717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16502419">Connerney et al. (2006)</a> inhibited suture fusion in Twist1 +/- mice by increasing T/E formation either by increasing expression of E12 or by decreasing Id expression. They concluded that dimer partner selection is a critical regulator of TWIST function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16502419" 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 quantitative PCR and Northern blot analysis, <a href="#29" class="mim-tip-reference" title="Pan, D., Fujimoto, M., Lopes, A., Wang, Y.-X. <strong>Twist-1 is a PPAR-delta-inducible, negative-feedback regulator of PGC-1-alpha in brown fat metabolism.</strong> Cell 137: 73-86, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19345188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19345188</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19345188[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.cell.2009.01.051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19345188">Pan et al. (2009)</a> found that mouse Twist1 was highly expressed in brown and white fat compared with all other tissues examined. Expression of Twist1 was increased in mature cultured mouse white fat adipocytes compared with preadipocytes, but overexpression of Twist1 did not affect adipogenic differentiation. Twist1 bound Pgc1-alpha (PPARGC1A; <a href="/entry/604517">604517</a>) and inhibited its transcriptional activity, leading to reduced Pgc1-alpha-stimulated oxygen consumption and fatty acid oxidation. Binding of Twist1 did not alter Pgc1-alpha localization on target promoters, but it stabilized Pgc1-alpha against ubiquitination and inhibited acetylation of Pgc1-alpha target genes. Stable knockdown of Twist1 via RNA interference in newborn mouse brown fat preadipocytes and in differentiated brown fat cells increased expression of Pgc1-alpha target genes and mitochondrial biogenesis. Conversely, overexpression of Twist1 suppressed expression of Pgc1-alpha target genes, mitochondrial biogenesis, and brown fat metabolism. Agonist-induced Ppar-delta (PPARD; <a href="/entry/600409">600409</a>) bound the promoter region of Twist1 and upregulated Twist1 expression in brown fat. <a href="#29" class="mim-tip-reference" title="Pan, D., Fujimoto, M., Lopes, A., Wang, Y.-X. <strong>Twist-1 is a PPAR-delta-inducible, negative-feedback regulator of PGC-1-alpha in brown fat metabolism.</strong> Cell 137: 73-86, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19345188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19345188</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19345188[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.cell.2009.01.051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19345188">Pan et al. (2009)</a> concluded that TWIST1 is involved in a negative feedback regulatory loop with PGC1-alpha and PPAR-delta to modulate brown fat metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19345188" 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="#28" class="mim-tip-reference" title="Niesner, U., Albrecht, I., Janke, M., Doebis, C., Loddenkemper, C., Lexberg, M. H., Eulenburg, K., Kreher, S., Koeck, J., Baumgrass, R., Bonhagen, K., Kamradt, T., and 26 others. <strong>Autoregulation of Th1-mediated inflammation by twist1.</strong> J. Exp. Med. 205: 1889-1901, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18663125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18663125</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18663125[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/10.1084/jem.20072468" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18663125">Niesner et al. (2008)</a> showed that Twist1 was transiently expressed in repeatedly activated mouse T helper-1 (Th1) effector memory cells, but not in Th2 or Th17 cells. Th1 cells isolated from chronically inflamed gut tissue of patients with ulcerative colitis or Crohn disease (IBD1; <a href="/entry/266600">266600</a>) and joints of patients with spondyloarthropathies (see <a href="/entry/106300">106300</a>) or rheumatoid arthritis (<a href="/entry/180300">180300</a>) expressed high levels of TWIST1, suggesting repeated restimulation and an involvement in disease pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18663125" 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="#44" class="mim-tip-reference" title="Yang, F., Sun, L., Li, Q., Han, X., Lei, L., Zhang, H., Shang, Y. <strong>SET8 promotes epithelial-mesenchymal transition and confers TWIST dual transcriptional activities.</strong> EMBO J. 31: 110-123, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983900</a>] [<a href="https://doi.org/10.1038/emboj.2011.364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983900">Yang et al. (2012)</a> found that TWIST physically interacts in vivo with the histone lysine methyltransferase SET8 (<a href="/entry/607240">607240</a>), and that the N-terminal region of SET8 is required for this interaction. TWIST and SET8 cooperated to promote epithelial-mesenchymal transition and metastasis in breast cancer cells following implantation in mice. In knockdown and overexpression studies, TWIST recruited SET8 to the promoter regions of E-cadherin (CDH1; <a href="/entry/192090">192090</a>) and N-cadherin (CDH2; <a href="/entry/114020">114020</a>), and histone H4 (see <a href="/entry/602822">602822</a>) lys20 monomethylation by SET8 resulted in downregulation of E-cadherin and upregulation of N-cadherin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21983900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By a computational approach, <a href="#19" class="mim-tip-reference" title="Hirsch, N., Eshel, R., Bar Yaacov, R., Shahar, T., Shmulevich, F., Dahan, I., Levaot, N., Kaplan, T., Lupianez, D. G., Birnbaum, R. Y. <strong>Unraveling the transcriptional regulation of TWIST1 in limb development.</strong> PLoS Genet. 14: e1007738, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30372441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30372441</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30372441[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/10.1371/journal.pgen.1007738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30372441">Hirsch et al. (2018)</a> identified 12 putative enhancers for the mouse Twist1 gene, located in the neighboring gene Hdac9 and likely regulating Twist1 transcription during limb and brachial arch development. Subsequently, analysis with zebrafish and mice confirmed that 8 of these candidates likely regulated Twist1 fin/limb and branchial expression during embryonic development, and defined the minimal sequences for some of the enhancers required for tissue-specific expression of Twist1. Analysis with 3 enhancers revealed that the Twist1 promoter region interacted with the Twist1 enhancers in the limb bud and branchial arch of mouse embryos, and transcription factors Lmx1b (<a href="/entry/602575">602575</a>) and Tfap2 (<a href="/entry/107580">107580</a>) regulated the activity of those enhancers by binding to them. Deletion of some of the enhancers reduced limb bud expression of Twist1 in mice in vivo, and mimicked the preaxial-polydactyly (PPD) phenotype previously observed in a Twist1 +/- mouse model. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30372441" 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 RT-PCR and Western blot analyses, <a href="#40" class="mim-tip-reference" title="Vonhogen, I. G. C., El Azzouzi, H., Olieslagers, S., Vasilevich, A., de Boer, J., Tinahones, F. J., da Costa Martins, P. A., de Windt, L. J., Murri, M. <strong>MiR-337-3p promotes adipocyte browning by inhibiting TWIST1.</strong> Cells 9: 1056, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32340411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32340411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32340411[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/10.3390/cells9041056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32340411">Vonhogen et al. (2020)</a> found that increased Mir337-3p (<a href="/entry/620408">620408</a>) expression paralleled decreased Twist1 expression in mouse brown adipose tissue compared with white adipose tissue. Overexpression of Mir337-3p in brown preadipocytes led to reduced Twist1 expression, accompanied by increased expression of brown/mitochondrial markers. Luciferase assays revealed that Mir337-3p targeted Twist1 by interacting with its 3-prime UTR. The authors confirmed the inverse relationship between MIR337-3p and TWIST1 expression in adipose tissue from humans with and without metabolic syndrome (see <a href="/entry/605552">605552</a>) and observed dysregulation of the MIR337-3p-TWIST1 axis in metabolic syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32340411" 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="Krebs, I., Weis, I., Hudler, M., Rommens, J. M., Roth, H., Scherer, S. W., Tsui, L.-C., Fuchtbauer, E.-M., Grzeschik, K.-H., Tsuji, K., Kunz, J. <strong>Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome.</strong> Hum. Molec. Genet. 6: 1079-1086, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215678</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215678">Krebs et al. (1997)</a> found that the breakpoint of an apparently balanced translocation t(6;7)(q16.2;p15.3) associated with a mild form of Saethre-Chotzen syndrome (<a href="#39" class="mim-tip-reference" title="Tsuji, K., Narahara, K., Yokoyama, Y., Grzeschik, K.-H., Kunz, J. <strong>The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.</strong> Hum. Genet. 95: 303-307, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868123</a>] [<a href="https://doi.org/10.1007/BF00225198" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7868123">Tsuji et al., 1995</a>) occurred approximately 5 kb 3-prime of the TWIST locus and deleted 518 bp of chromosome 7. Potential exon sequences flanking the chromosome 7 translocation breakpoint did not hit known genes in database searches. They stated that the chromosome rearrangement downstream of TWIST is compatible with the notion that TWIST is the Saethre-Chotzen syndrome gene and implies loss of function of 1 allele by a positional effect as a possible mechanism of mutation evoking the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7868123+9215678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Saethre-Chotzen Syndrome</em></strong></p><p>
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Twist is required in head mesenchyme for cranial neural tube morphogenesis in mice. While homozygous Twist-null murine embryos exhibit failure of neural tube closure, heterozygosity for Twist-null mutations results in a moderate phenotype including minor skull and limb anomalies consistent with those of the Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>). Furthermore, the clinical phenotype of SCS was mapped to 7p22-p21 by linkage analysis; <a href="#3" class="mim-tip-reference" title="Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F. <strong>The human H-twist gene is located at 7p21 and encodes a b-HLH protein that is 96% similar to its murine M-twist counterpart.</strong> Mammalian Genome 7: 915-917, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995765</a>] [<a href="https://doi.org/10.1007/s003359900269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8995765">Bourgeois et al. (1996)</a> and <a href="#20" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. <strong>Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 36-41, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988166</a>] [<a href="https://doi.org/10.1038/ng0197-36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988166">Howard et al. (1997)</a> mapped the human TWIST gene to the same region of 7p. This prompted <a href="#20" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. <strong>Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 36-41, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988166</a>] [<a href="https://doi.org/10.1038/ng0197-36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988166">Howard et al. (1997)</a> and <a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> to seek mutations in the TWIST gene in SCS. Both groups found a number of mutations occurring within the basic DNA binding, helix I, and loop domains resulting in substitutions or premature termination of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8988166+8995765+8988167" 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="#32" class="mim-tip-reference" title="Rose, C. S. P., Patel, P., Reardon, W., Malcolm, S., Winter, R. M. <strong>The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.</strong> Hum. Molec. Genet. 6: 1369-1373, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9259286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9259286</a>] [<a href="https://doi.org/10.1093/hmg/6.8.1369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9259286">Rose et al. (1997)</a> reported that the breakpoints in 4 translocation patients with SCS did not interrupt the coding sequence of the TWIST gene and thus most likely were acting through a positional effect. TWIST mutations were found in 12 SCS cases. Four of these families had been used as part of the linkage study of the SCS locus. The mutations detected included missense and nonsense mutations and 3 cases of a 21-bp duplication (<a href="#0007">601622.0007</a>). Although phenotypically diagnosed as having SCS, 3 families were found to have a pro250-to-arg mutation of FGFR3 (<a href="/entry/134934#0014">134934.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9259286" 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="#43" class="mim-tip-reference" title="Wilkie, A. O. M. <strong>Craniosynostosis: genes and mechanisms.</strong> Hum. Molec. Genet. 6: 1647-1656, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9300656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9300656</a>] [<a href="https://doi.org/10.1093/hmg/6.10.1647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9300656">Wilkie (1997)</a> reviewed genes and mechanisms involved in craniosynostosis. Mutations of 5 genes had yielded new insight into both normal and abnormal cranial suture biogenesis: MSX2 (<a href="/entry/123101">123101</a>), FGFR1 (<a href="/entry/136350">136350</a>), FGFR2 (<a href="/entry/176943">176943</a>), FGFR3 (<a href="/entry/134934">134934</a>), and TWIST. Whereas the human MSX2 and FGFR mutations involve gain of function, the TWIST mutations largely involve loss of function (haploinsufficiency). This is supported by the evidence of frequent nonsense mutations in the TWIST gene but not in the MSX2 or FGFR genes. <a href="#43" class="mim-tip-reference" title="Wilkie, A. O. M. <strong>Craniosynostosis: genes and mechanisms.</strong> Hum. Molec. Genet. 6: 1647-1656, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9300656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9300656</a>] [<a href="https://doi.org/10.1093/hmg/6.10.1647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9300656">Wilkie (1997)</a> commented that the spectra of mutations observed in the TWIST and FGFR genes are highly nonrandom. Although relatively few mutations have been described in TWIST, 21-bp duplications (with 3 distinct molecular origins) comprised about one-third. The explanation can be accommodated within conventional molecular biology, i.e., a repeat unit with 21-bp periodicity is present in that region of chromosome 7 (<a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9300656+8988167" 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="#15" class="mim-tip-reference" title="Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H. <strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 82: 170-176, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934984</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934984">Gripp et al. (1999)</a> described a mutation of the TWIST gene (<a href="#0008">601622.0008</a>) in a patient with unilateral radial aplasia and bicoronal synostosis, features fitting a narrow definition of Baller-Gerold syndrome (BGS; <a href="/entry/218600">218600</a>). Because the TWIST mutation pointed to the diagnosis of SCS (<a href="/entry/101400">101400</a>), the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9934984" 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="El Ghouzzi, V., Lajeunie, E., Le Merrer, M., Cormier-Daire, V., Renier, D., Munnich, A., Bonaventure, J. <strong>Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.</strong> Europ. J. Hum. Genet. 7: 27-33, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10094188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10094188</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10094188">El Ghouzzi et al. (1999)</a> found TWIST mutations in 16 of 22 unrelated patients with Saethre-Chotzen syndrome. All of these mutations involved the bHLH domain of the protein. Mutant genotypes included frameshift deletions/insertions and nonsense and missense mutations, either truncating or disrupting the bHLH motif of the protein. This observation supported the view that most SCS cases result from loss-of-function mutations at the TWIST locus. In 2 of the 22 cases studied, the recurrent P250R mutation of the FGFR3 gene (<a href="/entry/134934#0014">134934.0014</a>), presenting mild clinical manifestations of Saethre-Chotzen syndrome, was found. In 4 of the 22 cases, no TWIST or FGFR3 mutation was found. Clinical reexamination of patients carrying TWIST mutations failed to reveal correlations between the mutant genotype and severity of the phenotype. No TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10094188" 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="Gripp, K. W., Zackai, E. H., Stolle, C. A. <strong>Mutations in the human TWIST gene.</strong> Hum. Mutat. 15: 150-155, 2000. Note: Erratum: Hum. Mutat. 15: 479 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10649491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10649491</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10649491">Gripp et al. (2000)</a> tabulated 51 mutations in the TWIST gene observed by others and themselves in patients with Saethre-Chotzen syndrome and in a note added in proof described 2 additional mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="El Ghouzzi, V., Legeai-Mallet, L., Aresta, S., Benoist, C., Munnich, A., de Gunzburg, J., Bonaventure, J. <strong>Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.</strong> Hum. Molec. Genet. 9: 813-819, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749989</a>] [<a href="https://doi.org/10.1093/hmg/9.5.813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10749989">El Ghouzzi et al. (2000)</a> studied stability, dimerization capacities, and subcellular distribution of 3 types of TWIST mutant. Nonsense mutations resulted in an unstable truncated protein; missense mutations involving the helical domains led to a complete loss of TWIST heterodimerization with the E12 bHLH protein (<a href="/entry/147141">147141</a>) in a yeast 2-hybrid system, and dramatically altered the ability of the TWIST protein to localize to the nucleus of COS-transfected cells. In-frame insertion or missense mutations within the loop significantly altered dimer formation but not nuclear location of the protein. The authors concluded that at least 2 distinct mechanisms account for loss of TWIST protein function in SCS patients, namely protein degradation and subcellular mislocalization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10749989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By electrophoretic mobility shift assay, <a href="#13" class="mim-tip-reference" title="El Ghouzzi, V., Legeai-Mallet, L., Benoist-Lasselin, C., Lajeunie, E., Renier, D., Munnich, A., Bonaventure, J. <strong>Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.</strong> FEBS Lett. 492: 112-118, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11248247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11248247</a>] [<a href="https://doi.org/10.1016/s0014-5793(01)02238-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11248247">El Ghouzzi et al. (2001)</a> found that mutations affecting conserved residues in the basic domain and the loop-helix II junction of TWIST resulted in loss of DNA-binding activity. These mutations did not affect TWIST mRNA stability or targeting and dimerization of the TWIST protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11248247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an extensive review of the genetics of craniofacial development and malformation, <a href="#42" class="mim-tip-reference" title="Wilkie, A. O. M., Morriss-Kay, G. M. <strong>Genetics of craniofacial development and malformation.</strong> Nature Rev. Genet. 2: 458-468, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389462</a>] [<a href="https://doi.org/10.1038/35076601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389462">Wilkie and Morriss-Kay (2001)</a> provided a useful diagram of the molecular pathways in cranial suture development with a listing of all craniofacial disorders caused by mutations in the corresponding genes. Four proteins were indicated as having strong evidence for existing in the pathway, with successive downstream targets as follows: TWIST--FGFR2--FGFR1--CBFA1 (RUNX2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11389462" 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="#46" class="mim-tip-reference" title="Yousfi, M., Lasmoles, F., El Ghouzzi, V., Marie, P. J. <strong>Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNF expression and caspase-2 activation.</strong> Hum. Molec. Genet. 11: 359-369, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11854168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11854168</a>] [<a href="https://doi.org/10.1093/hmg/11.4.359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11854168">Yousfi et al. (2002)</a> demonstrated increased osteoblast and osteocyte apoptosis in coronal sutures from 2 SCS patients with nonsense mutations, including Y103X (<a href="#0001">601622.0001</a>), that result in the synthesis of bHLH-truncated proteins, and one patient with a missense mutation in the basic domain that abolished Twist DNA binding. Mutant-Twist calvarial cells cultured in low serum conditions showed enhanced DNA fragmentation compared to normal age-matched calvarial cells. Biochemical analysis showed increased activity of initiator caspase-2 (<a href="/entry/600639">600639</a>) and caspase-8 (<a href="/entry/601763">601763</a>) and downstream effector caspase-3 (<a href="/entry/600636">600636</a>), caspase-6 (<a href="/entry/601532">601532</a>), and caspase-7 (<a href="/entry/601761">601761</a>) in mutant osteoblasts. Mutant-Twist osteoblasts also showed increased cytochrome c release from the mitochondria. However, the activity of the downstream effector caspase-9 (<a href="/entry/602234">602234</a>) was not increased due to overexpression of the antagonist protein Hsp70 (see <a href="/entry/140550">140550</a>). Detection of differentially expressed genes using cDNA expression array revealed increased Bax (<a href="/entry/600040">600040</a>) and TNF-alpha (<a href="/entry/191160">191160</a>) mRNA levels in mutant-Twist cells. Neutralization of TNF overexpression using anti-TNF or anti-TNF receptor 1 antibodies abolished the increased activity of caspases-2, -8, -3, -6, and -7 in mutant-Twist osteoblasts. The authors concluded that Twist haploinsufficiency in SCS promotes osteoblast apoptosis by a TNF-caspase cascade, and that Twist plays an antiapoptotic role in human calvarial osteoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11854168" 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="Guenou, H., Kaabeche, K., Le Mee, S., Marie, P. J. <strong>A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.</strong> Hum. Molec. Genet. 14: 1429-1439, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15829502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15829502</a>] [<a href="https://doi.org/10.1093/hmg/ddi152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15829502">Guenou et al. (2005)</a> reported that cranial osteoblasts from an SCS patient with the Y103X mutation showed decreased FGFR2 (<a href="/entry/176943">176943</a>) mRNA levels associated with decreased expression of Runx2 (<a href="/entry/600211">600211</a>), bone sialoprotein (SPP1; <a href="/entry/166490">166490</a>) and osteocalcin (BGLAP; <a href="/entry/112260">112260</a>), compared to wildtype osteoblasts. Transfection with Twist or Runx2 expression vectors, but not with a Runx2 mutant that impairs DNA binding, restored Fgfr2, Runx2, SPP1 and osteocalcin expression in Twist-mutant osteoblasts. EMSA analysis of mutant osteoblast nuclear extracts showed reduced Runx2 binding to a target OSE2 site in the Fgfr2 promoter. ChIP analyses showed that both Twist and Runx2 in mutant osteoblast nuclear extracts bound to a specific region in the Fgfr2 promoter. Significantly, forced expression of Fgfr2 restored Runx2 and osteoblast marker genes, whereas a dominant-negative Fgfr2 further decreased Runx2 and downstream genes in Twist mutant osteoblasts, indicating that alteration of Fgfr2 resulted in downregulation of osteoblast genes in Twist-mutant osteoblasts. <a href="#17" class="mim-tip-reference" title="Guenou, H., Kaabeche, K., Le Mee, S., Marie, P. J. <strong>A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.</strong> Hum. Molec. Genet. 14: 1429-1439, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15829502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15829502</a>] [<a href="https://doi.org/10.1093/hmg/ddi152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15829502">Guenou et al. (2005)</a> concluded that Twist haploinsufficiency downregulates Fgfr2 mRNA expression, which in turn reduces Runx2 and downstream osteoblast-specific genes in human calvarial osteoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15829502" 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="Cai, J., Goodman, B. K., Patel, A. S., Mulliken, J. B., Van Maldergem, L., Hoganson, G. E., Paznekas, W. A., Ben-Neriah, Z., Sheffer, R., Cunningham, M. L., Daentl, D. L., Jabs, E. W. <strong>Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.</strong> Hum. Genet. 114: 68-76, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14513358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14513358</a>] [<a href="https://doi.org/10.1007/s00439-003-1012-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14513358">Cai et al. (2003)</a> found by real-time gene dosage analysis that of 55 patients with features of Saethre-Chotzen syndrome, 11% had deletions of the TWIST gene. Two patients had a translocation or inversion at least 260 kb 3-prime of the TWIST gene, suggesting the presence of position-effect mutations. Of the 37 patients with classic features of Saethre-Chotzen syndrome, the overall detection rate for TWIST mutations was 68%. The risk for developmental delay in patients with deletions involving the TWIST gene was approximately 90%, or 8 times, more common than in patients with intragenic mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14513358" 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="#14" class="mim-tip-reference" title="Firulli, B. A., Krawchuk, D., Centonze, V. E., Vargesson, N., Virshup, D. M., Conway, S. J., Cserjesi, P., Laufer, E., Firulli, A. B. <strong>Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.</strong> Nature Genet. 37: 373-381, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15735646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15735646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15735646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15735646">Firulli et al. (2005)</a> noted that multiple TWIST1 mutations associated with Saethre-Chotzen syndrome alter protein kinase A-mediated phosphorylation of TWIST1, suggesting that misregulation of TWIST1 dimerization through either stoichiometric or posttranslational mechanisms underlies phenotypes of individuals with Saethre-Chotzen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15735646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Kress, W., Schropp, C., Lieb, G., Petersen, B., Busse-Ratzka, M., Kunz, J., Reinhart, E., Schafer, W.-D., Sold, J., Hoppe, F., Pahnke, J., Trusen, A., Sorensen, N., Krauss, J., Collmann, H. <strong>Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.</strong> Europ. J. Hum. Genet. 14: 39-48, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251895</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251895">Kress et al. (2006)</a> identified 25 mutations in the TWIST1 gene in 71 patients from 39 of 124 pedigrees with coronal suture synostosis. Fourteen novel mutations were identified. Sixty-two of the patients presented with typical features of SCS, whereas 9 were cases of very mild expression that had not been appreciated through inspection alone, and 3 were found only through pedigree analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251895" 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>Robinow-Sorauf Syndrome</em></strong></p><p>
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In a mother and son with Robinow-Sorauf syndrome (<a href="/entry/180750">180750</a>), <a href="#24" class="mim-tip-reference" title="Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E. <strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong> J. Med. Genet. 36: 650-652, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>]" pmid="10465122">Kunz et al. (1999)</a> identified heterozygosity for a 1-bp insertion in the TWIST1 gene (<a href="#0009">601622.0009</a>). The authors considered this mutation to be confirmation that the Saethre-Chotzen and Robinow-Sorauf syndromes are at least allelic, if not part of a clinical spectrum of the same condition. <a href="#5" class="mim-tip-reference" title="Cai, J., Goodman, B. K., Patel, A. S., Mulliken, J. B., Van Maldergem, L., Hoganson, G. E., Paznekas, W. A., Ben-Neriah, Z., Sheffer, R., Cunningham, M. L., Daentl, D. L., Jabs, E. W. <strong>Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.</strong> Hum. Genet. 114: 68-76, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14513358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14513358</a>] [<a href="https://doi.org/10.1007/s00439-003-1012-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14513358">Cai et al. (2003)</a> suggested that the diagnosis of Robinow-Sorauf syndrome in the family reported by <a href="#24" class="mim-tip-reference" title="Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E. <strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong> J. Med. Genet. 36: 650-652, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>]" pmid="10465122">Kunz et al. (1999)</a> could be questioned because the affected individuals lacked certain characteristics, such as syndactyly, that were found repeatedly in all members of the original Robinow-Sorauf pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10465122+14513358" 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="#6" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> restudied the original family reported by <a href="#30" class="mim-tip-reference" title="Robinow, M., Sorauf, T. J. <strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong> Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>]" pmid="1240778">Robinow and Sorauf (1975)</a> and identified heterozygosity for a truncating mutation in the TWIST gene (Q71X; <a href="#0012">601622.0012</a>). <a href="#6" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> stated that they examined 3 of the 11 affected members of the original family with Robinow-Sorauf syndrome in addition to the propositus and found that all had second interdigital syndactyly as well as a toe deformity (either polydactyly or hallux valgus). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1240778+12791045" 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>Craniosynostosis 1</em></strong></p><p>
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<a href="#33" class="mim-tip-reference" title="Seto, M. L., Hing, A. V., Chang, J., Hu, M., Kapp-Simon, K. A., Patel, P. K., Burton, B. K., Kane, A. A., Smyth, M. D., Hopper, R., Ellenbogen, R. G., Stevenson, K., Speltz, M. L., Cunningham, M. L. <strong>Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.</strong> Am. J. Med. Genet. 143A: 678-686, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17343269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17343269</a>] [<a href="https://doi.org/10.1002/ajmg.a.31630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17343269">Seto et al. (2007)</a> performed mutation analysis in 164 infants with isolated single-suture craniosynostosis (CRS1; <a href="/entry/123100">123100</a>) for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIIc exons of FGFR2, and the P250R site of FGFR3. The authors identified novel missense mutations in the TWIST box in 2 patients, 1 with coronal (<a href="#0013">601622.0013</a>) and 1 with sagittal (<a href="#0014">601622.0014</a>) synostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17343269" 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>Sweeney-Cox Syndrome</em></strong></p><p>
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In an unrelated boy and girl with frontonasal dysplasia, hypertelorism, eyelid colobomas, and crumpled ears (Sweeney-Cox syndrome, SWCOS; <a href="/entry/617746">617746</a>), <a href="#21" class="mim-tip-reference" title="Kim, S., Twigg, S. R. F., Scanlon, V. A., Chandra, A., Hansen, T. J., Alsubait, A., Fenwick, A. L., McGowan, S. J., Lord, H., Lester, T., Sweeney, E., Weber, A., Cox, H., Wilkie, A. O. M., Golden, A., Corsi, A. K. <strong>Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.</strong> Hum. Molec. Genet. 26: 2118-2132, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28369379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28369379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28369379[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28369379">Kim et al. (2017)</a> identified heterozygous missense mutations in the TWIST1 gene, both involving the same residue: E117V (<a href="#0015">601622.0015</a>) and E117G (<a href="#0016">601622.0016</a>). Experiments in the C. elegans homolog gene hlh-8 suggested a predominantly dominant-negative mechanism for the action of amino acid substitutions at this highly conserved glutamic acid residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28369379" 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>Possible Association with Auriculocondylar Syndrome 4</em></strong></p><p>
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In a large 4-generation Brazilian family with auriculocondylar syndrome mapping to chromosome 7p21 (ARCND4; <a href="/entry/620457">620457</a>), <a href="#31" class="mim-tip-reference" title="Romanelli Tavares, V. L., Guimaraes-Ramos, S. L., Zhou, Y., Masotti, C., Ezquina, S., Moreira, D. P., Buermans, H., Freitas, R. S., Den Dunnen, J. T., Twigg, S. R. F., Passos-Bueno, M. R. <strong>New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.</strong> J. Med. Genet. 59: 895-905, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34750192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34750192</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34750192[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2021-107825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34750192">Romanelli Tavares et al. (2022)</a> identified a 430-kb tandem duplication in the HDAC9 gene (<a href="/entry/606543#0001">606543.0001</a>), telomeric to TWIST1 and covering most of the HDAC9 gene, that segregated fully with disease. Capture-C analysis of chromosome conformation revealed multiple cis interactions between the TWIST1 promoter and putative regulatory elements within the duplicated region. Patient-derived neural crest cells showed significant increases in HDAC9 and TWIST1 mRNA, and there was a significant decrease in migratory capacity of patient cells compared to controls. In addition, patient-derived mesenchymal stem cells showed significantly diminished ALP (see <a href="/entry/171760">171760</a>) expression and enzymatic activity during osteogenic differentiation compared to control cells, and a subtle decrease in matrix mineralization was also observed in patient cells. The authors suggested that the 430-kb tandem duplication causes deregulation of TWIST1 expression, which results in development of ARCND features through compromised neural crest migration and osteogenic differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34750192" 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>Heterozygous-null Twist mice have variable expression of craniofacial and limb defects consistent with the phenotype and variability seen in Saethre-Chotzen syndrome (<a href="#2" class="mim-tip-reference" title="Bourgeois, P., Bolcato-Bellemin, A.-L., Danse, J.-M., Bloch-Zupan, A., Yoshiba, K., Stoetzel, C., Perrin-Schmitt, F. <strong>The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.</strong> Hum. Molec. Genet. 7: 945-957, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9580658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9580658</a>] [<a href="https://doi.org/10.1093/hmg/7.6.945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9580658">Bourgeois et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9580658" 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>Mice heterozygous for the ethylmethanesulfonate (EMS)-induced polydactyly ems (pde) mutation show preaxial polydactyly of the hindlimbs. <a href="#4" class="mim-tip-reference" title="Browning, V. L., Chaudhry, S. S., Planchart, A., Dixon, M. J., Schimenti, J. C. <strong>Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.</strong> Genomics 73: 291-298, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350121</a>] [<a href="https://doi.org/10.1006/geno.2001.6523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350121">Browning et al. (2001)</a> determined that the pde mutation maps to chromosome 12 and is an allele of Twist. However, sequencing the Twist protein-coding region and several hundred basepairs upstream of the coding region failed to reveal a disease-associated mutation. <a href="#4" class="mim-tip-reference" title="Browning, V. L., Chaudhry, S. S., Planchart, A., Dixon, M. J., Schimenti, J. C. <strong>Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.</strong> Genomics 73: 291-298, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11350121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11350121</a>] [<a href="https://doi.org/10.1006/geno.2001.6523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11350121">Browning et al. (2001)</a> concluded that the lesion may be in a regulatory element of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11350121" 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="#29" class="mim-tip-reference" title="Pan, D., Fujimoto, M., Lopes, A., Wang, Y.-X. <strong>Twist-1 is a PPAR-delta-inducible, negative-feedback regulator of PGC-1-alpha in brown fat metabolism.</strong> Cell 137: 73-86, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19345188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19345188</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19345188[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.cell.2009.01.051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19345188">Pan et al. (2009)</a> found that homozygous Twist1 knockout in mice was embryonic lethal. Twist1 +/- mice were resistant to obesity when placed on a high-fat diet and showed substantially less lipid accumulation in brown fat compared with wildtype animals. The brown fat of Twist1 +/- mice showed elevated oxygen consumption and mitochondrial biogenesis, and Twist1 +/- mice exhibited elevated nighttime, but not daytime, body temperature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19345188" 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 each of 5 families with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#20" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. <strong>Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 36-41, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988166</a>] [<a href="https://doi.org/10.1038/ng0197-36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988166">Howard et al. (1997)</a> found that a unique mutation of the TWIST gene segregated with the disorder. One mutation was a single adenosine nucleotide insertion predicted to result in a frameshift and premature termination of the protein prior to the DNA-binding domain. This tyr103-to-ter (Y103X) mutation, which they designated Y103STOP, created a truncated protein lacking the basic and helix-loop-helix domains. A father and his daughter with the Y103STOP mutation had all the classic features of SCS as well as cleft palate, short stature, and learning disabilities requiring special education. Patients with the other mutations had fewer of the associated anomalies and no cognitive problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#20" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. <strong>Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 36-41, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988166</a>] [<a href="https://doi.org/10.1038/ng0197-36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988166">Howard et al. (1997)</a> demonstrated a Q119P (gln119-to-pro) mutation in the TWIST gene that most likely resulted in the disruption of the alpha helix in the DNA-binding domain. Therefore, they predicted that the mutation would alter or abolish the ability of this mutant TWIST to bind DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008439" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008439" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008439</a>
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<p>In patients with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> identified heterozygosity for 3 nonsense mutations of the TWIST gene. One of these, tyr107 to ter (Y107X), was predicted to result in translation termination upstream of the first helix of the bHLH domain of protein. See also <a href="#0004">601622.0004</a> and <a href="#0005">601622.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 SAETHRE-CHOTZEN 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">rs121909187 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909187;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=rs121909187" 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=rs121909187" 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=RCV000008440 OR RCV001723552 OR RCV001851736" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008440, RCV001723552, RCV001851736" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008440...</a>
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<p>In patients with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> identified a TCG-to-TAG (ser127-to-ter) nonsense mutation in the TWIST gene predicted to result in translation termination within the first helix of the bHLH domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<strong>.0005 SAETHRE-CHOTZEN SYNDROME</strong>
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TWIST1, GLU130TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909188 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909188;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=rs121909188" 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=rs121909188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008441 OR RCV000706654 OR RCV001550722" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008441, RCV000706654, RCV001550722" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008441...</a>
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<span class="mim-text-font">
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<p>In a patient with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> identified a GAG-to-CAG transversion of the TWIST gene predicted to result in translation termination within the first helix of the bHLH domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 SAETHRE-CHOTZEN SYNDROME</strong>
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</span>
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</h4>
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TWIST1, LEU135PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909189 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909189;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=rs121909189" 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=rs121909189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008442" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008442" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008442</a>
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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 Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> demonstrated heterozygosity for a T-to-C transition in the TWIST gene, changing codon 135 from CTG (leu) to CCG (pro). The mutation was located within the first helix of the bHLH domain of the protein and affected a highly conserved amino acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 SAETHRE-CHOTZEN SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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TWIST1, 21-BP DUP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1585616948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1585616948;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=rs1585616948" 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=rs1585616948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000985276 OR RCV001381187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000985276, RCV001381187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000985276...</a>
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<span class="mim-text-font">
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<p>In 3 unrelated patients with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), <a href="#32" class="mim-tip-reference" title="Rose, C. S. P., Patel, P., Reardon, W., Malcolm, S., Winter, R. M. <strong>The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.</strong> Hum. Molec. Genet. 6: 1369-1373, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9259286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9259286</a>] [<a href="https://doi.org/10.1093/hmg/6.8.1369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9259286">Rose et al. (1997)</a> identified a 21-bp duplication in the TWIST gene. The authors stated that a total of 8 such duplications had been found in which 5 different nucleotides, spread across 16 bases, had been identified as a start point of the duplication. The start points of the 3 duplications found in this study were nucleotides 418, 419, and 421. In the cases of 418 and 421, the duplication involved the addition of 7 amino acids; in the case of 419, it resulted in a premature stop at codon 139. The remarkably large number of duplications suggested a mechanism involving misalignment of a directly repeated sequence 21 bp apart. <a href="#11" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. <strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong> Nature Genet. 15: 42-46, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988167</a>] [<a href="https://doi.org/10.1038/ng0197-42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988167">El Ghouzzi et al. (1997)</a> had reported 2 hexanucleotide repeats 21 bp apart close to the duplication start points. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9259286+8988167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 SAETHRE-CHOTZEN SYNDROME</strong>
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</span>
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</h4>
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</div>
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TWIST1, GLU181TER
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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> rs104894058 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894058;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/rs104894058?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=rs104894058" 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=rs104894058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008444" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008444" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008444</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#15" class="mim-tip-reference" title="Gripp, K. W., Stolle, C. A., Celle, L., McDonald-McGinn, D. M., Whitaker, L. A., Zackai, E. H. <strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 82: 170-176, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934984</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9934984">Gripp et al. (1999)</a> described an E181X (glu181-to-ter) mutation in the TWIST gene, predicted to lead to premature termination of the protein carboxy-terminal to the helix 2 domain, in a child with cranial synostosis and unilateral radial aplasia. The diagnosis of Baller-Gerold syndrome (<a href="/entry/218600">218600</a>) was entertained. After the TWIST mutation was discovered, which pointed to the diagnosis of Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9934984" 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>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 ROBINOW-SORAUF SYNDROME</strong>
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</h4>
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TWIST1, 1-BP INS, 460A
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<p>In a proband and his mother affected with Robinow-Sorauf syndrome (<a href="/entry/180750">180750</a>), <a href="#24" class="mim-tip-reference" title="Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E. <strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong> J. Med. Genet. 36: 650-652, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>]" pmid="10465122">Kunz et al. (1999)</a> reported a 1-bp insertion at position 460-461 in the second triplet of the helix II domain, resulting in a frameshift and a stop codon at position 864, and elongating the putative protein product by 88 amino acids. The authors considered this mutation evidence that Robinow-Sorauf syndrome is at least allelic to Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), if not part of the phenotypic spectrum of that syndrome, rather than a separate disease entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465122" 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="#6" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> suggested that the diagnosis of Robinow-Sorauf syndrome in the family reported by <a href="#24" class="mim-tip-reference" title="Kunz, J., Hudler, M., Fritz, B., Gillessen-Kaesbach, G., Passarge, E. <strong>Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.</strong> J. Med. Genet. 36: 650-652, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465122</a>]" pmid="10465122">Kunz et al. (1999)</a> could be questioned because the affected individuals lacked certain characteristics, such as syndactyly, that were found repeatedly in all members of the original Robinow-Sorauf pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10465122+12791045" 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">rs104894059 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894059;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=rs104894059" 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=rs104894059" 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=RCV000008446 OR RCV002512908" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008446, RCV002512908" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008446...</a>
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<p><a href="#34" class="mim-tip-reference" title="Seto, M. L., Lee, S. J., Sze, R. W., Cunningham, M. L. <strong>Another TWIST on Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 104: 323-330, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754069</a>] [<a href="https://doi.org/10.1002/ajmg.10065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754069">Seto et al. (2001)</a> reported a male patient with features typically associated with Baller-Gerold syndrome (<a href="/entry/218600">218600</a>), including metopic, sagittal, and coronal craniosynostosis and bilateral radial ray hypoplasia, along with other features, including small, round ears with prominent crus helices and cervical anomalies. The patient was found to have an A-to-G transition at nucleotide 466 in the conserved helix II domain of the TWIST gene, resulting in an ile156-to-val (I156V) substitution. The father, who also carried the mutation, had very mild features of Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>). <a href="#34" class="mim-tip-reference" title="Seto, M. L., Lee, S. J., Sze, R. W., Cunningham, M. L. <strong>Another TWIST on Baller-Gerold syndrome.</strong> Am. J. Med. Genet. 104: 323-330, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754069</a>] [<a href="https://doi.org/10.1002/ajmg.10065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754069">Seto et al. (2001)</a> suggested that some cases of Baller-Gerold syndrome should be reclassified as a heterogeneous form of Saethre-Chotzen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11754069" 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">rs104894055 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894055;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=rs104894055" 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=rs104894055" 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=RCV000008447 OR RCV001390391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008447, RCV001390391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008447...</a>
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<p><a href="#9" class="mim-tip-reference" title="Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F. <strong>Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter)</strong> J. Med. Genet. 38: 470-471, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11474656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11474656</a>] [<a href="https://doi.org/10.1136/jmg.38.7.470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11474656">Dollfus et al. (2001)</a> identified a gln28-to-ter (Q28X) mutation in the TWIST gene in a large Indian family, initially referred because of prominent palpebral anomalies in some members (<a href="#26" class="mim-tip-reference" title="Maw, M., Kar, B., Biswas, J., Biswas, P., Nancarrow, D., Denton, M., Bridges, R., Kumaramanickavel, G., Badrinath, S. S. <strong>Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.</strong> Hum. Molec. Genet. 5: 2049-2054, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968762</a>] [<a href="https://doi.org/10.1093/hmg/5.12.2049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968762">Maw et al., 1996</a>) sharing features in common with the BPES syndrome (<a href="/entry/110100">110100</a>). Indeed this was considered to be a separate form of BPES (BPES3). After clinical reappraisal of all members of the family, some of whom were not born at the time of the initial linkage analysis, <a href="#8" class="mim-tip-reference" title="Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F. <strong>Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.</strong> Am. J. Med. Genet. 109: 218-225, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11977182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11977182</a>] [<a href="https://doi.org/10.1002/ajmg.10349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11977182">Dollfus et al. (2002)</a> concluded that the phenotypic expression was compatible with Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>), with remarkable phenotypic variability. Only 4 of the 16 patients examined showed obvious craniostenosis, namely, oxycephaly. The penetrance of craniosynostosis was lower than previously reported for SCS. Fifteen patients (93%) had moderate to severe ptosis. Minor limb and external ear abnormalities were present in most. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. This phenotypic variability could be the result of modifier genes and/or genetic background effect, as noticed previously in the transgenic Twist-null heterozygous mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8968762+11474656+11977182" 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">rs104894065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894065;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=rs104894065" 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=rs104894065" 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=RCV000008448 OR RCV001059805 OR RCV002283441" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008448, RCV001059805, RCV002283441" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008448...</a>
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<p><a href="#6" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> restudied the original family reported by <a href="#30" class="mim-tip-reference" title="Robinow, M., Sorauf, T. J. <strong>Acrocephalopolysyndactyly, type Noack, in a large kindred.</strong> Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1240778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1240778</a>]" pmid="1240778">Robinow and Sorauf (1975)</a> and identified heterozygosity for a 221C-T transition in the TWIST gene, resulting in a premature stop codon at amino acid position 71 (Q71X). <a href="#6" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> stated that they examined 3 of the 11 affected members of the original family with Robinow-Sorauf syndrome (<a href="/entry/180750">180750</a>) in addition to the propositus and found that all had second interdigital syndactyly as well as a toe deformity (either polydactyly or hallux valgus). <a href="#6" class="mim-tip-reference" title="Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W. <strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong> Clin. Genet. 64: 79-82, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12791045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12791045</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12791045">Cai et al. (2003)</a> stated that the reported 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and provide further proof that the 'Robinow-Sorauf' syndrome lies within the spectrum of the SCS syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1240778+12791045" 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">rs121909190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909190;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=rs121909190" 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=rs121909190" 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=RCV000008449" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008449" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008449</a>
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<p>In a male infant with isolated synostosis of the right coronal suture (CRS1; <a href="/entry/123100">123100</a>), <a href="#33" class="mim-tip-reference" title="Seto, M. L., Hing, A. V., Chang, J., Hu, M., Kapp-Simon, K. A., Patel, P. K., Burton, B. K., Kane, A. A., Smyth, M. D., Hopper, R., Ellenbogen, R. G., Stevenson, K., Speltz, M. L., Cunningham, M. L. <strong>Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.</strong> Am. J. Med. Genet. 143A: 678-686, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17343269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17343269</a>] [<a href="https://doi.org/10.1002/ajmg.a.31630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17343269">Seto et al. (2007)</a> identified heterozygosity for a 556G-T transversion in the C-terminal box of the TWIST1 gene, resulting in an ala186-to-thr (A186T) substitution. The patient had no facial anomalies other than the associated facial asymmetry, no 2-3 syndactyly, and neurologic status was normal, although at 18 months of age his mental and psychomotor development was in the low average to mildly delayed range. The mutation was not found in either parent, and there was no family history of craniosynostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17343269" 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>.0014 CRANIOSYNOSTOSIS 1</strong>
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TWIST1, SER188LEU
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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> rs121909191 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909191;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/rs121909191?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=rs121909191" 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=rs121909191" 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=RCV000008450" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008450" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008450</a>
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<p>In a male infant with isolated synostosis of the sagittal suture (CRS1; <a href="/entry/123100">123100</a>), <a href="#33" class="mim-tip-reference" title="Seto, M. L., Hing, A. V., Chang, J., Hu, M., Kapp-Simon, K. A., Patel, P. K., Burton, B. K., Kane, A. A., Smyth, M. D., Hopper, R., Ellenbogen, R. G., Stevenson, K., Speltz, M. L., Cunningham, M. L. <strong>Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.</strong> Am. J. Med. Genet. 143A: 678-686, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17343269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17343269</a>] [<a href="https://doi.org/10.1002/ajmg.a.31630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17343269">Seto et al. (2007)</a> identified heterozygosity for a 563C-T transition in the C-terminal box of the TWIST1 gene, resulting in an ser188-to-leu (S188L) substitution. The patient had no facial anomalies or 2-3 syndactyly, and neurologic status was normal, although at 24 months of age his mental and psychomotor development was mildly delayed. The unaffected father also carried the mutation; both father and son had small, square-shaped ears. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17343269" 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>.0015 SWEENEY-COX SYNDROME</strong>
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TWIST1, GLU117VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554442016 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554442016;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=rs1554442016" 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=rs1554442016" 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=RCV000512820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000512820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000512820</a>
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<p>In a boy with Sweeney-Cox syndrome (SWCOS; <a href="/entry/617746">617746</a>), previously reported as 'family 18' by <a href="#27" class="mim-tip-reference" title="Miller, K. A., Twigg, S. R. F., McGowan, S. J., Phipps, J. M., Fenwick, A. L., Johnson, D., Wall, S. A., Noons, P., Rees, K. E. M., Tidey, E. A., Craft, J., Taylor, J., and 15 others. <strong>Diagnostic value of exome and whole genome sequencing in craniosynostosis.</strong> J. Med. Genet. 54: 260-268, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27884935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27884935</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27884935[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27884935">Miller et al. (2017)</a>, <a href="#21" class="mim-tip-reference" title="Kim, S., Twigg, S. R. F., Scanlon, V. A., Chandra, A., Hansen, T. J., Alsubait, A., Fenwick, A. L., McGowan, S. J., Lord, H., Lester, T., Sweeney, E., Weber, A., Cox, H., Wilkie, A. O. M., Golden, A., Corsi, A. K. <strong>Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.</strong> Hum. Molec. Genet. 26: 2118-2132, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28369379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28369379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28369379[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28369379">Kim et al. (2017)</a> demonstrated heterozygosity for a de novo c.350A-T transversion (chr7:19,116,972A-T) in the TWIST1 gene, resulting in a glu117-to-val (E117V) substitution at a highly conserved residue within the basic DNA binding domain. The mutation was not present in either of his biologically confirmed unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27884935+28369379" 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>.0016 SWEENEY-COX SYNDROME</strong>
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TWIST1, GLU117GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554442016 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554442016;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=rs1554442016" 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=rs1554442016" 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=RCV000513176 OR RCV003766897" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000513176, RCV003766897" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000513176...</a>
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<p>In a girl with Sweeney-Cox syndrome (SWCOS; <a href="/entry/617746">617746</a>), <a href="#21" class="mim-tip-reference" title="Kim, S., Twigg, S. R. F., Scanlon, V. A., Chandra, A., Hansen, T. J., Alsubait, A., Fenwick, A. L., McGowan, S. J., Lord, H., Lester, T., Sweeney, E., Weber, A., Cox, H., Wilkie, A. O. M., Golden, A., Corsi, A. K. <strong>Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.</strong> Hum. Molec. Genet. 26: 2118-2132, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28369379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28369379</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28369379[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28369379">Kim et al. (2017)</a> identified heterozygosity for a de novo c.350A-G transition (chr7:19,116,972A-G) in the TWIST1 gene, resulting in a glu117-to-gly (E117G) substitution at a highly conserved residue within the basic DNA binding domain. The mutation was not present in either of her unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28369379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Bialek2004" class="mim-anchor"></a>
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Bialek, P., Kern, B., Yang, X., Schrock, M., Sosic, D., Hong, N., Wu, H., Yu, K., Ornitz, D. M., Olson, E. N., Justice, M. J., Karsenty, G.
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<strong>A Twist code determines the onset of osteoblast differentiation.</strong>
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Dev. Cell 6: 423-435, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15030764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15030764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15030764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1534-5807(04)00058-9" target="_blank">Full Text</a>]
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Bourgeois, P., Bolcato-Bellemin, A.-L., Danse, J.-M., Bloch-Zupan, A., Yoshiba, K., Stoetzel, C., Perrin-Schmitt, F.
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<strong>The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.</strong>
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Hum. Molec. Genet. 7: 945-957, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9580658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9580658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9580658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/7.6.945" target="_blank">Full Text</a>]
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<a id="Bourgeois1996" class="mim-anchor"></a>
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Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F.
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<strong>The human H-twist gene is located at 7p21 and encodes a b-HLH protein that is 96% similar to its murine M-twist counterpart.</strong>
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Mammalian Genome 7: 915-917, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8995765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900269" target="_blank">Full Text</a>]
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Browning, V. L., Chaudhry, S. S., Planchart, A., Dixon, M. J., Schimenti, J. C.
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<strong>Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.</strong>
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[<a href="https://doi.org/10.1006/geno.2001.6523" target="_blank">Full Text</a>]
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Cai, J., Goodman, B. K., Patel, A. S., Mulliken, J. B., Van Maldergem, L., Hoganson, G. E., Paznekas, W. A., Ben-Neriah, Z., Sheffer, R., Cunningham, M. L., Daentl, D. L., Jabs, E. W.
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<strong>Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.</strong>
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[<a href="https://doi.org/10.1007/s00439-003-1012-7" target="_blank">Full Text</a>]
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Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W.
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<strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong>
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Clin. Genet. 64: 79-82, 2003.
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[<a href="https://doi.org/10.1034/j.1399-0004.2003.00098.x" target="_blank">Full Text</a>]
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Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., Spicer, D. B.
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<strong>Twist1 dimer selection regulates cranial suture patterning and fusion.</strong>
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Dev. Dyn. 235: 1345-1357, 2006. Note: Erratum: Dev. Dyn. 241: 433 only, 2012.
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[<a href="https://doi.org/10.1002/dvdy.20717" target="_blank">Full Text</a>]
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<a id="Dollfus2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F.
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<strong>Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.</strong>
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Am. J. Med. Genet. 109: 218-225, 2002.
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[<a href="https://doi.org/10.1002/ajmg.10349" target="_blank">Full Text</a>]
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<a id="Dollfus2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.
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<strong>Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter)</strong>
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[<a href="https://doi.org/10.1136/jmg.38.7.470" target="_blank">Full Text</a>]
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<strong>Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.</strong>
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[<a href="https://doi.org/10.1038/sj.ejhg.5200240" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0197-42" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/9.5.813" target="_blank">Full Text</a>]
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<a id="El Ghouzzi2001" class="mim-anchor"></a>
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<strong>Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.</strong>
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FEBS Lett. 492: 112-118, 2001.
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[<a href="https://doi.org/10.1016/s0014-5793(01)02238-4" target="_blank">Full Text</a>]
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Firulli, B. A., Krawchuk, D., Centonze, V. E., Vargesson, N., Virshup, D. M., Conway, S. J., Cserjesi, P., Laufer, E., Firulli, A. B.
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<strong>Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.</strong>
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[<a href="https://doi.org/10.1038/ng1525" target="_blank">Full Text</a>]
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<strong>TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.</strong>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x" target="_blank">Full Text</a>]
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<a id="Gripp2000" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D" target="_blank">Full Text</a>]
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<strong>A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.</strong>
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[<a href="https://doi.org/10.1093/hmg/ddi152" target="_blank">Full Text</a>]
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<strong>Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein Twist and adenoviral oncoprotein E1A.</strong>
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[<a href="https://doi.org/10.1016/s0092-8674(00)80553-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1371/journal.pgen.1007738" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0197-36" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddx107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.7.1079" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201507" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00290439" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/5.12.2049" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2016-104215" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1084/jem.20072468" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.cell.2009.01.051" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.8.1369" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31630" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1242/dev.117.2.751" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(03)00002-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M411018200" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.12.5.599" target="_blank">Full Text</a>]
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<a id="Tsuji1995" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1007/BF00225198" target="_blank">Full Text</a>]
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Vonhogen, I. G. C., El Azzouzi, H., Olieslagers, S., Vasilevich, A., de Boer, J., Tinahones, F. J., da Costa Martins, P. A., de Windt, L. J., Murri, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32340411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32340411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32340411[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=32340411" 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/10.3390/cells9041056" target="_blank">Full Text</a>]
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<a id="Wang1997" class="mim-anchor"></a>
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Wang, S. M., Coljee, V. W., Pignolo, R. J., Rotenberg, M. O., Cristofalo, V. J., Sierra, F.
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<strong>Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9073070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9073070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9073070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/35076601" target="_blank">Full Text</a>]
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Wilkie, A. O. M.
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Hum. Molec. Genet. 6: 1647-1656, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9300656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9300656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9300656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.10.1647" target="_blank">Full Text</a>]
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Yang, F., Sun, L., Li, Q., Han, X., Lei, L., Zhang, H., Shang, Y.
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EMBO J. 31: 110-123, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21983900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/emboj.2011.364" target="_blank">Full Text</a>]
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Yang, J., Mani, S. A., Donaher, J. L., Ramaswamy, S., Itzykson, R. A., Come, C., Savagner, P., Gitelman, I., Richardson, A., Weinberg, R. A.
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<strong>Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis.</strong>
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Cell 117: 927-939, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15210113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15210113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15210113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2004.06.006" target="_blank">Full Text</a>]
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Yousfi, M., Lasmoles, F., El Ghouzzi, V., Marie, P. J.
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<strong>Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNF expression and caspase-2 activation.</strong>
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Hum. Molec. Genet. 11: 359-369, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11854168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11854168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11854168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.4.359" target="_blank">Full Text</a>]
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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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Bao Lige - updated : 11/02/2023
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Marla J. F. O'Neill - updated : 07/27/2023<br>Matthew B. Gross - updated : 06/02/2023<br>Marla J. F. O'Neill - updated : 10/26/2017<br>Patricia A. Hartz - updated : 4/4/2013<br>Paul J. Converse - updated : 10/2/2012<br>Patricia A. Hartz - updated : 5/6/2009<br>George E. Tiller - updated : 6/5/2008<br>Marla J. F. O'Neill - updated : 6/7/2007<br>Patricia A. Hartz - updated : 7/6/2006<br>Cassandra L. Kniffin - updated : 2/28/2006<br>Victor A. McKusick - updated : 3/29/2005<br>Stylianos E. Antonarakis - updated : 8/4/2004<br>Patricia A. Hartz - updated : 4/20/2004<br>Victor A. McKusick - updated : 12/9/2003<br>Victor A. McKusick - updated : 7/18/2003<br>Stylianos E. Antonarakis - updated : 2/11/2003<br>George E. Tiller - updated : 9/25/2002<br>Victor A. McKusick - updated : 5/22/2002<br>Sonja A. Rasmussen - updated : 1/3/2002<br>Victor A. McKusick - updated : 9/17/2001<br>George E. Tiller - updated : 4/25/2000<br>Victor A. McKusick - updated : 2/22/2000<br>Michael J. Wright - updated : 10/27/1999<br>Victor A. McKusick - updated : 4/21/1999<br>Ada Hamosh - updated : 3/11/1999<br>Stylianos E. Antonarakis - updated : 2/16/1999<br>Victor A. McKusick - updated : 2/14/1999<br>Victor A. McKusick - updated : 2/11/1998<br>Victor A. McKusick - updated : 8/22/1997<br>Victor A. McKusick - updated : 8/15/1997
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Victor A. McKusick : 1/10/1997
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alopez : 11/02/2023
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carol : 11/02/2023<br>carol : 07/27/2023<br>carol : 06/07/2023<br>mgross : 06/06/2023<br>mgross : 06/02/2023<br>carol : 11/15/2019<br>carol : 10/26/2017<br>carol : 10/26/2017<br>carol : 10/27/2016<br>carol : 09/19/2016<br>carol : 11/24/2015<br>tpirozzi : 10/1/2013<br>carol : 7/18/2013<br>alopez : 4/4/2013<br>mgross : 10/4/2012<br>mgross : 10/4/2012<br>terry : 10/2/2012<br>terry : 6/18/2012<br>carol : 6/4/2012<br>carol : 8/24/2011<br>carol : 2/11/2011<br>mgross : 5/8/2009<br>terry : 5/6/2009<br>wwang : 6/10/2008<br>terry : 6/5/2008<br>alopez : 6/15/2007<br>wwang : 6/13/2007<br>terry : 6/7/2007<br>mgross : 7/10/2006<br>mgross : 7/10/2006<br>terry : 7/6/2006<br>alopez : 3/15/2006<br>wwang : 3/14/2006<br>ckniffin : 2/28/2006<br>tkritzer : 4/1/2005<br>terry : 3/29/2005<br>mgross : 8/4/2004<br>mgross : 4/20/2004<br>tkritzer : 12/11/2003<br>terry : 12/9/2003<br>cwells : 7/30/2003<br>terry : 7/18/2003<br>mgross : 2/11/2003<br>cwells : 9/25/2002<br>tkritzer : 9/5/2002<br>alopez : 6/5/2002<br>cwells : 6/5/2002<br>terry : 5/22/2002<br>carol : 1/7/2002<br>mcapotos : 1/3/2002<br>mcapotos : 9/19/2001<br>mcapotos : 9/17/2001<br>alopez : 4/25/2000<br>mcapotos : 3/24/2000<br>mcapotos : 3/23/2000<br>mcapotos : 3/22/2000<br>mcapotos : 3/14/2000<br>terry : 2/22/2000<br>alopez : 10/27/1999<br>carol : 4/23/1999<br>terry : 4/21/1999<br>carol : 3/11/1999<br>mgross : 2/16/1999<br>mgross : 2/16/1999<br>carol : 2/14/1999<br>carol : 7/2/1998<br>alopez : 2/11/1998<br>alopez : 2/11/1998<br>dholmes : 2/6/1998<br>mark : 8/28/1997<br>mark : 8/26/1997<br>terry : 8/22/1997<br>jenny : 8/20/1997<br>terry : 8/15/1997<br>mark : 7/1/1997<br>mark : 2/6/1997<br>jamie : 1/16/1997<br>mark : 1/15/1997<br>jenny : 1/14/1997<br>mark : 1/10/1997
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</h3>
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<h3>
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<span class="mim-font">
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TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1; TWIST1
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</h3>
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</div>
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<br />
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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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<h4>
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<span class="mim-font">
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TWIST, DROSOPHILA, HOMOLOG OF, 1<br />
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TRANSCRIPTION FACTOR TWIST; TWIST
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TWIST1</em></strong>
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 83015004;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 7p21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:19,113,047-19,117,636 </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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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="4">
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<span class="mim-font">
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7p21.1
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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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Craniosynostosis 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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123100
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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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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Robinow-Sorauf 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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180750
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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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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Saethre-Chotzen syndrome with or without eyelid anomalies
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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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101400
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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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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Sweeney-Cox 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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617746
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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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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>TWIST1 belongs to the basic helix-loop-helix (bHLH) class of transcriptional regulators that recognize a consensus DNA element called the E box (Pan et al., 2009). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR of a placenta cDNA library using primers based on mouse Twist, Bourgeois et al. (1996) cloned human TWIST. The deduced 206-amino acid protein contains a central DNA-binding basic region followed by a helix-loop-helix domain. Mouse and human TWIST share 96.6% amino acid identity. In vitro-translated TWIST had an apparent molecular mass of 25 kD. </p><p>By selecting genes overexpressed in young quiescent human fibroblasts compared with senescent cells, followed by database analysis and screening a genomic library, Wang et al. (1997) cloned TWIST1. The deduced protein contains 201 amino acids and has a calculated molecular mass of 20.9 kD. It has a hydrophilic N terminus, followed by a bHLH DNA-binding and dimerization motif. It also contains several potential phosphorylation sites, including 2 in the loop region of the dimerization domain that are conserved among all species examined. TWIST orthologs were detected in all mammalian species examined, and within mammals, the DNA-binding region showed 100% sequence conservation. A possible ortholog was also detected in chicken, but not in yeast. Northern blot analysis detected a 1.6-kb transcript that was highly expressed in placenta. Lower expression was detected in adult heart and skeletal muscle, and weak expression was found in kidney and pancreas, but not in brain. Expression was detected in endometrial fibroblasts, peritoneal mesothelial cells, and fetal lung fibroblasts, but not in other cell lines examined. </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>El Ghouzzi et al. (1997) indicated that the TWIST gene contains 2 exons and 1 intron of 538 bp. The single coding exon (exon 1) has 772 bp. </p><p>Wang et al. (1997) identified 2 putative TATA boxes within the promoter region of the TWIST1 gene, but only the more proximal TATA box appeared to be functional. They also identified several potential transcription factor-binding sites in the TWIST1 promoter region. </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>Bourgeois et al. (1996) used isotopic in situ hybridization to map the TWIST1 gene to chromosome 7p21. The murine gene had been mapped to bands B-C1 of chromosome 12 by Mattei et al. (1993). </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>Studies in Drosophila by Shishido et al. (1993) indicated that Twist may affect the transcription of fibroblast growth factor receptors (FGFRs; see 136350), a gene family implicated in craniosynostosis. The emerging cascade of molecular components involved in craniofacial and limb development included TWIST, which may function as an upstream regulator of FGFRs. </p><p>Histone acetyltransferases (HATs) play a critical role in transcriptional control by relieving repressive effects of chromatin (Struhl, 1998). Hamamori et al. (1999) showed that Twist directly binds 2 independent HAT domains of acetyltransferases, p300 (602700) and p300/CBP-associated factor (PCAF; 602303), and directly regulates their HAT activities. The N terminus of Twist is a primary domain interacting with both acetyltransferases, and the same domain is required for inhibition of p300-dependent transcription by Twist. Adenovirus E1A protein mimicked the effects of Twist by inhibiting the HAT activities of p300 and PCAF. </p><p>Using electrophoretic mobility shift assays, El Ghouzzi et al. (2001) demonstrated that the TWIST-E12 (TCF3; 147141) dimer specifically recognizes the CATATG motif. </p><p>Sosic et al. (2003) showed that Twist and Dermo1 (607556), which they called Twist1 and Twist2, respectively, were induced by a cytokine signaling pathway that required the dorsal-related protein Rela (164014), a member of the nuclear factor kappa-B (NFKB; see 164011) family of transcription factors, in mice. Twist1 and Twist2 repressed cytokine gene expression through interaction with Rela. Mice homozygous for a Twist2 null allele or doubly heterozygous for Twist1 and Twist2 alleles showed elevated expression of proinflammatory cytokines, resulting in perinatal death from cachexia. Sosic et al. (2003) concluded that there is an evolutionarily conserved signaling circuit in which TWIST proteins regulate cytokine signaling by establishing a negative feedback loop that represses the NFKB-dependent cytokine pathway. </p><p>Bialek et al. (2004) determined that the Twist proteins transiently inhibit Runx2 (600211) function during skeletal development in mice. Twist1 and Twist2 were expressed in Runx2-expressing cells throughout the skeleton early during development, and osteoblast-specific gene expression occurred only after their expression decreased. Double heterozygotes for Twist1 and Runx2 deletion showed none of the skull abnormalities observed in Runx2 +/- mice, a Twist2 null background rescued the clavicle phenotype of Runx2 +/- mice, and Twist1 or Twist2 deficiency led to premature osteoblast differentiation. The antiosteogenic function of the Twist proteins was mediated by a domain Bialek et al. (2004) called the Twist box, which interacted with the Runx2 DNA-binding domain to inhibit its function. </p><p>Using a murine breast tumor model, Yang et al. (2004) determined that Twist plays an essential role in metastasis. Suppression of Twist expression in highly metastatic mammary carcinoma cells specifically inhibited their ability to metastasize from the mammary gland to the lung. Ectopic expression of Twist resulted in loss of E-cadherin (192090)-mediated cell-cell adhesion, activation of mesenchymal markers, and induction of cell motility, suggesting that Twist contributes to metastasis by promoting an epithelial-mesenchymal transition. In human breast cancers, high Twist expression correlated with invasive lobular carcinoma, a highly infiltrating tumor type associated with loss of E-cadherin expression. </p><p>Firulli et al. (2005) investigated the biochemical and genetic interactions between Twist1 and Hand2 (602407) both in vitro and during limb development in the chick and mouse. They showed that ectopic expression of the related basic helix-loop-helix factor Hand2 phenocopies Twist1 loss of function in the limb and that the 2 factors have a gene dosage-dependent antagonistic interaction. Dimerization partner choice by Twist1 and Hand2 can be modulated by protein kinase A (see 176911)- and protein phosphatase 2A (see 176915)-regulated phosphorylation of conserved helix I residues. </p><p>Stasinopoulos et al. (2005) found that HOXA5 (142952) bound TWIST. Using a p53 (TP53; 191170) promoter reporter system in a human TWIST-expressing breast carcinoma cell line, they found that TWIST suppressed p53 activity and that HOXA5 coexpression largely reversed this suppression. TWIST overexpression altered p53 phosphorylation and cell cycle progression in response to radiation. These effects were partially reversed by TWIST-specific small interfering RNA. </p><p>Connerney et al. (2006) showed that the activity of TWIST1 in human and mouse cell lines was dependent on its dimer partner. TWIST1 formed both homodimers (T/T) and heterodimers with E2A E proteins (T/E), and the relative level of TWIST1 to the HLH inhibitor Id proteins (see ID1; 600349) determined which dimer formed. On the basis of expression patterns of Twist1 and Id1 within mouse cranial sutures, Connerney et al. (2006) hypothesized that Twist1 forms T/T homodimers in osteogenic fronts and T/E heterodimers in midsutures. In support of this hypothesis, they found that genes regulated by T/T homodimers, such as Fgfr2 and periostin (POSTN; 608777), were expressed in osteogenic fronts, whereas genes regulated by T/E heterodimers, such as thrombospondin-1 (THBS1; 188060), were expressed in the midsutures. The ratio between T/T homodimers and T/E heterodimers was altered in the sutures of Twist1 +/- mice, favoring an increase in homodimers and an expansion of osteogenic fronts. In addition, the T/T to T/E ratio was greater in coronal versus sagittal sutures, which the authors suggested may contribute to making the coronal suture more susceptible to fusion due to Twist1 haploinsufficiency. Connerney et al. (2006) inhibited suture fusion in Twist1 +/- mice by increasing T/E formation either by increasing expression of E12 or by decreasing Id expression. They concluded that dimer partner selection is a critical regulator of TWIST function. </p><p>Using quantitative PCR and Northern blot analysis, Pan et al. (2009) found that mouse Twist1 was highly expressed in brown and white fat compared with all other tissues examined. Expression of Twist1 was increased in mature cultured mouse white fat adipocytes compared with preadipocytes, but overexpression of Twist1 did not affect adipogenic differentiation. Twist1 bound Pgc1-alpha (PPARGC1A; 604517) and inhibited its transcriptional activity, leading to reduced Pgc1-alpha-stimulated oxygen consumption and fatty acid oxidation. Binding of Twist1 did not alter Pgc1-alpha localization on target promoters, but it stabilized Pgc1-alpha against ubiquitination and inhibited acetylation of Pgc1-alpha target genes. Stable knockdown of Twist1 via RNA interference in newborn mouse brown fat preadipocytes and in differentiated brown fat cells increased expression of Pgc1-alpha target genes and mitochondrial biogenesis. Conversely, overexpression of Twist1 suppressed expression of Pgc1-alpha target genes, mitochondrial biogenesis, and brown fat metabolism. Agonist-induced Ppar-delta (PPARD; 600409) bound the promoter region of Twist1 and upregulated Twist1 expression in brown fat. Pan et al. (2009) concluded that TWIST1 is involved in a negative feedback regulatory loop with PGC1-alpha and PPAR-delta to modulate brown fat metabolism. </p><p>Niesner et al. (2008) showed that Twist1 was transiently expressed in repeatedly activated mouse T helper-1 (Th1) effector memory cells, but not in Th2 or Th17 cells. Th1 cells isolated from chronically inflamed gut tissue of patients with ulcerative colitis or Crohn disease (IBD1; 266600) and joints of patients with spondyloarthropathies (see 106300) or rheumatoid arthritis (180300) expressed high levels of TWIST1, suggesting repeated restimulation and an involvement in disease pathogenesis. </p><p>Yang et al. (2012) found that TWIST physically interacts in vivo with the histone lysine methyltransferase SET8 (607240), and that the N-terminal region of SET8 is required for this interaction. TWIST and SET8 cooperated to promote epithelial-mesenchymal transition and metastasis in breast cancer cells following implantation in mice. In knockdown and overexpression studies, TWIST recruited SET8 to the promoter regions of E-cadherin (CDH1; 192090) and N-cadherin (CDH2; 114020), and histone H4 (see 602822) lys20 monomethylation by SET8 resulted in downregulation of E-cadherin and upregulation of N-cadherin. </p><p>By a computational approach, Hirsch et al. (2018) identified 12 putative enhancers for the mouse Twist1 gene, located in the neighboring gene Hdac9 and likely regulating Twist1 transcription during limb and brachial arch development. Subsequently, analysis with zebrafish and mice confirmed that 8 of these candidates likely regulated Twist1 fin/limb and branchial expression during embryonic development, and defined the minimal sequences for some of the enhancers required for tissue-specific expression of Twist1. Analysis with 3 enhancers revealed that the Twist1 promoter region interacted with the Twist1 enhancers in the limb bud and branchial arch of mouse embryos, and transcription factors Lmx1b (602575) and Tfap2 (107580) regulated the activity of those enhancers by binding to them. Deletion of some of the enhancers reduced limb bud expression of Twist1 in mice in vivo, and mimicked the preaxial-polydactyly (PPD) phenotype previously observed in a Twist1 +/- mouse model. </p><p>Using RT-PCR and Western blot analyses, Vonhogen et al. (2020) found that increased Mir337-3p (620408) expression paralleled decreased Twist1 expression in mouse brown adipose tissue compared with white adipose tissue. Overexpression of Mir337-3p in brown preadipocytes led to reduced Twist1 expression, accompanied by increased expression of brown/mitochondrial markers. Luciferase assays revealed that Mir337-3p targeted Twist1 by interacting with its 3-prime UTR. The authors confirmed the inverse relationship between MIR337-3p and TWIST1 expression in adipose tissue from humans with and without metabolic syndrome (see 605552) and observed dysregulation of the MIR337-3p-TWIST1 axis in metabolic syndrome. </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>Cytogenetics</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>Krebs et al. (1997) found that the breakpoint of an apparently balanced translocation t(6;7)(q16.2;p15.3) associated with a mild form of Saethre-Chotzen syndrome (Tsuji et al., 1995) occurred approximately 5 kb 3-prime of the TWIST locus and deleted 518 bp of chromosome 7. Potential exon sequences flanking the chromosome 7 translocation breakpoint did not hit known genes in database searches. They stated that the chromosome rearrangement downstream of TWIST is compatible with the notion that TWIST is the Saethre-Chotzen syndrome gene and implies loss of function of 1 allele by a positional effect as a possible mechanism of mutation evoking the syndrome. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Saethre-Chotzen Syndrome</em></strong></p><p>
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Twist is required in head mesenchyme for cranial neural tube morphogenesis in mice. While homozygous Twist-null murine embryos exhibit failure of neural tube closure, heterozygosity for Twist-null mutations results in a moderate phenotype including minor skull and limb anomalies consistent with those of the Saethre-Chotzen syndrome (SCS; 101400). Furthermore, the clinical phenotype of SCS was mapped to 7p22-p21 by linkage analysis; Bourgeois et al. (1996) and Howard et al. (1997) mapped the human TWIST gene to the same region of 7p. This prompted Howard et al. (1997) and El Ghouzzi et al. (1997) to seek mutations in the TWIST gene in SCS. Both groups found a number of mutations occurring within the basic DNA binding, helix I, and loop domains resulting in substitutions or premature termination of the protein. </p><p>Rose et al. (1997) reported that the breakpoints in 4 translocation patients with SCS did not interrupt the coding sequence of the TWIST gene and thus most likely were acting through a positional effect. TWIST mutations were found in 12 SCS cases. Four of these families had been used as part of the linkage study of the SCS locus. The mutations detected included missense and nonsense mutations and 3 cases of a 21-bp duplication (601622.0007). Although phenotypically diagnosed as having SCS, 3 families were found to have a pro250-to-arg mutation of FGFR3 (134934.0014). </p><p>Wilkie (1997) reviewed genes and mechanisms involved in craniosynostosis. Mutations of 5 genes had yielded new insight into both normal and abnormal cranial suture biogenesis: MSX2 (123101), FGFR1 (136350), FGFR2 (176943), FGFR3 (134934), and TWIST. Whereas the human MSX2 and FGFR mutations involve gain of function, the TWIST mutations largely involve loss of function (haploinsufficiency). This is supported by the evidence of frequent nonsense mutations in the TWIST gene but not in the MSX2 or FGFR genes. Wilkie (1997) commented that the spectra of mutations observed in the TWIST and FGFR genes are highly nonrandom. Although relatively few mutations have been described in TWIST, 21-bp duplications (with 3 distinct molecular origins) comprised about one-third. The explanation can be accommodated within conventional molecular biology, i.e., a repeat unit with 21-bp periodicity is present in that region of chromosome 7 (El Ghouzzi et al., 1997). </p><p>Gripp et al. (1999) described a mutation of the TWIST gene (601622.0008) in a patient with unilateral radial aplasia and bicoronal synostosis, features fitting a narrow definition of Baller-Gerold syndrome (BGS; 218600). Because the TWIST mutation pointed to the diagnosis of SCS (101400), the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation. </p><p>El Ghouzzi et al. (1999) found TWIST mutations in 16 of 22 unrelated patients with Saethre-Chotzen syndrome. All of these mutations involved the bHLH domain of the protein. Mutant genotypes included frameshift deletions/insertions and nonsense and missense mutations, either truncating or disrupting the bHLH motif of the protein. This observation supported the view that most SCS cases result from loss-of-function mutations at the TWIST locus. In 2 of the 22 cases studied, the recurrent P250R mutation of the FGFR3 gene (134934.0014), presenting mild clinical manifestations of Saethre-Chotzen syndrome, was found. In 4 of the 22 cases, no TWIST or FGFR3 mutation was found. Clinical reexamination of patients carrying TWIST mutations failed to reveal correlations between the mutant genotype and severity of the phenotype. No TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis. </p><p>Gripp et al. (2000) tabulated 51 mutations in the TWIST gene observed by others and themselves in patients with Saethre-Chotzen syndrome and in a note added in proof described 2 additional mutations. </p><p>El Ghouzzi et al. (2000) studied stability, dimerization capacities, and subcellular distribution of 3 types of TWIST mutant. Nonsense mutations resulted in an unstable truncated protein; missense mutations involving the helical domains led to a complete loss of TWIST heterodimerization with the E12 bHLH protein (147141) in a yeast 2-hybrid system, and dramatically altered the ability of the TWIST protein to localize to the nucleus of COS-transfected cells. In-frame insertion or missense mutations within the loop significantly altered dimer formation but not nuclear location of the protein. The authors concluded that at least 2 distinct mechanisms account for loss of TWIST protein function in SCS patients, namely protein degradation and subcellular mislocalization. </p><p>By electrophoretic mobility shift assay, El Ghouzzi et al. (2001) found that mutations affecting conserved residues in the basic domain and the loop-helix II junction of TWIST resulted in loss of DNA-binding activity. These mutations did not affect TWIST mRNA stability or targeting and dimerization of the TWIST protein. </p><p>In an extensive review of the genetics of craniofacial development and malformation, Wilkie and Morriss-Kay (2001) provided a useful diagram of the molecular pathways in cranial suture development with a listing of all craniofacial disorders caused by mutations in the corresponding genes. Four proteins were indicated as having strong evidence for existing in the pathway, with successive downstream targets as follows: TWIST--FGFR2--FGFR1--CBFA1 (RUNX2). </p><p>Yousfi et al. (2002) demonstrated increased osteoblast and osteocyte apoptosis in coronal sutures from 2 SCS patients with nonsense mutations, including Y103X (601622.0001), that result in the synthesis of bHLH-truncated proteins, and one patient with a missense mutation in the basic domain that abolished Twist DNA binding. Mutant-Twist calvarial cells cultured in low serum conditions showed enhanced DNA fragmentation compared to normal age-matched calvarial cells. Biochemical analysis showed increased activity of initiator caspase-2 (600639) and caspase-8 (601763) and downstream effector caspase-3 (600636), caspase-6 (601532), and caspase-7 (601761) in mutant osteoblasts. Mutant-Twist osteoblasts also showed increased cytochrome c release from the mitochondria. However, the activity of the downstream effector caspase-9 (602234) was not increased due to overexpression of the antagonist protein Hsp70 (see 140550). Detection of differentially expressed genes using cDNA expression array revealed increased Bax (600040) and TNF-alpha (191160) mRNA levels in mutant-Twist cells. Neutralization of TNF overexpression using anti-TNF or anti-TNF receptor 1 antibodies abolished the increased activity of caspases-2, -8, -3, -6, and -7 in mutant-Twist osteoblasts. The authors concluded that Twist haploinsufficiency in SCS promotes osteoblast apoptosis by a TNF-caspase cascade, and that Twist plays an antiapoptotic role in human calvarial osteoblasts. </p><p>Guenou et al. (2005) reported that cranial osteoblasts from an SCS patient with the Y103X mutation showed decreased FGFR2 (176943) mRNA levels associated with decreased expression of Runx2 (600211), bone sialoprotein (SPP1; 166490) and osteocalcin (BGLAP; 112260), compared to wildtype osteoblasts. Transfection with Twist or Runx2 expression vectors, but not with a Runx2 mutant that impairs DNA binding, restored Fgfr2, Runx2, SPP1 and osteocalcin expression in Twist-mutant osteoblasts. EMSA analysis of mutant osteoblast nuclear extracts showed reduced Runx2 binding to a target OSE2 site in the Fgfr2 promoter. ChIP analyses showed that both Twist and Runx2 in mutant osteoblast nuclear extracts bound to a specific region in the Fgfr2 promoter. Significantly, forced expression of Fgfr2 restored Runx2 and osteoblast marker genes, whereas a dominant-negative Fgfr2 further decreased Runx2 and downstream genes in Twist mutant osteoblasts, indicating that alteration of Fgfr2 resulted in downregulation of osteoblast genes in Twist-mutant osteoblasts. Guenou et al. (2005) concluded that Twist haploinsufficiency downregulates Fgfr2 mRNA expression, which in turn reduces Runx2 and downstream osteoblast-specific genes in human calvarial osteoblasts. </p><p>Cai et al. (2003) found by real-time gene dosage analysis that of 55 patients with features of Saethre-Chotzen syndrome, 11% had deletions of the TWIST gene. Two patients had a translocation or inversion at least 260 kb 3-prime of the TWIST gene, suggesting the presence of position-effect mutations. Of the 37 patients with classic features of Saethre-Chotzen syndrome, the overall detection rate for TWIST mutations was 68%. The risk for developmental delay in patients with deletions involving the TWIST gene was approximately 90%, or 8 times, more common than in patients with intragenic mutations. </p><p>Firulli et al. (2005) noted that multiple TWIST1 mutations associated with Saethre-Chotzen syndrome alter protein kinase A-mediated phosphorylation of TWIST1, suggesting that misregulation of TWIST1 dimerization through either stoichiometric or posttranslational mechanisms underlies phenotypes of individuals with Saethre-Chotzen syndrome. </p><p>Kress et al. (2006) identified 25 mutations in the TWIST1 gene in 71 patients from 39 of 124 pedigrees with coronal suture synostosis. Fourteen novel mutations were identified. Sixty-two of the patients presented with typical features of SCS, whereas 9 were cases of very mild expression that had not been appreciated through inspection alone, and 3 were found only through pedigree analysis. </p><p><strong><em>Robinow-Sorauf Syndrome</em></strong></p><p>
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In a mother and son with Robinow-Sorauf syndrome (180750), Kunz et al. (1999) identified heterozygosity for a 1-bp insertion in the TWIST1 gene (601622.0009). The authors considered this mutation to be confirmation that the Saethre-Chotzen and Robinow-Sorauf syndromes are at least allelic, if not part of a clinical spectrum of the same condition. Cai et al. (2003) suggested that the diagnosis of Robinow-Sorauf syndrome in the family reported by Kunz et al. (1999) could be questioned because the affected individuals lacked certain characteristics, such as syndactyly, that were found repeatedly in all members of the original Robinow-Sorauf pedigree. </p><p>Cai et al. (2003) restudied the original family reported by Robinow and Sorauf (1975) and identified heterozygosity for a truncating mutation in the TWIST gene (Q71X; 601622.0012). Cai et al. (2003) stated that they examined 3 of the 11 affected members of the original family with Robinow-Sorauf syndrome in addition to the propositus and found that all had second interdigital syndactyly as well as a toe deformity (either polydactyly or hallux valgus). </p><p><strong><em>Craniosynostosis 1</em></strong></p><p>
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Seto et al. (2007) performed mutation analysis in 164 infants with isolated single-suture craniosynostosis (CRS1; 123100) for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIIc exons of FGFR2, and the P250R site of FGFR3. The authors identified novel missense mutations in the TWIST box in 2 patients, 1 with coronal (601622.0013) and 1 with sagittal (601622.0014) synostosis. </p><p><strong><em>Sweeney-Cox Syndrome</em></strong></p><p>
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In an unrelated boy and girl with frontonasal dysplasia, hypertelorism, eyelid colobomas, and crumpled ears (Sweeney-Cox syndrome, SWCOS; 617746), Kim et al. (2017) identified heterozygous missense mutations in the TWIST1 gene, both involving the same residue: E117V (601622.0015) and E117G (601622.0016). Experiments in the C. elegans homolog gene hlh-8 suggested a predominantly dominant-negative mechanism for the action of amino acid substitutions at this highly conserved glutamic acid residue. </p><p><strong><em>Possible Association with Auriculocondylar Syndrome 4</em></strong></p><p>
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In a large 4-generation Brazilian family with auriculocondylar syndrome mapping to chromosome 7p21 (ARCND4; 620457), Romanelli Tavares et al. (2022) identified a 430-kb tandem duplication in the HDAC9 gene (606543.0001), telomeric to TWIST1 and covering most of the HDAC9 gene, that segregated fully with disease. Capture-C analysis of chromosome conformation revealed multiple cis interactions between the TWIST1 promoter and putative regulatory elements within the duplicated region. Patient-derived neural crest cells showed significant increases in HDAC9 and TWIST1 mRNA, and there was a significant decrease in migratory capacity of patient cells compared to controls. In addition, patient-derived mesenchymal stem cells showed significantly diminished ALP (see 171760) expression and enzymatic activity during osteogenic differentiation compared to control cells, and a subtle decrease in matrix mineralization was also observed in patient cells. The authors suggested that the 430-kb tandem duplication causes deregulation of TWIST1 expression, which results in development of ARCND features through compromised neural crest migration and osteogenic differentiation. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Heterozygous-null Twist mice have variable expression of craniofacial and limb defects consistent with the phenotype and variability seen in Saethre-Chotzen syndrome (Bourgeois et al., 1998). </p><p>Mice heterozygous for the ethylmethanesulfonate (EMS)-induced polydactyly ems (pde) mutation show preaxial polydactyly of the hindlimbs. Browning et al. (2001) determined that the pde mutation maps to chromosome 12 and is an allele of Twist. However, sequencing the Twist protein-coding region and several hundred basepairs upstream of the coding region failed to reveal a disease-associated mutation. Browning et al. (2001) concluded that the lesion may be in a regulatory element of the gene. </p><p>Pan et al. (2009) found that homozygous Twist1 knockout in mice was embryonic lethal. Twist1 +/- mice were resistant to obesity when placed on a high-fat diet and showed substantially less lipid accumulation in brown fat compared with wildtype animals. The brown fat of Twist1 +/- mice showed elevated oxygen consumption and mitochondrial biogenesis, and Twist1 +/- mice exhibited elevated nighttime, but not daytime, body temperature. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>16 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 SAETHRE-CHOTZEN 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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TWIST1, TYR103TER
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<br />
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SNP: rs104894054, rs121909186,
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ClinVar: RCV000008437, RCV002512907, RCV004965260
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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 each of 5 families with Saethre-Chotzen syndrome (SCS; 101400), Howard et al. (1997) found that a unique mutation of the TWIST gene segregated with the disorder. One mutation was a single adenosine nucleotide insertion predicted to result in a frameshift and premature termination of the protein prior to the DNA-binding domain. This tyr103-to-ter (Y103X) mutation, which they designated Y103STOP, created a truncated protein lacking the basic and helix-loop-helix domains. A father and his daughter with the Y103STOP mutation had all the classic features of SCS as well as cleft palate, short stature, and learning disabilities requiring special education. Patients with the other mutations had fewer of the associated anomalies and no cognitive problems. </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>.0002 SAETHRE-CHOTZEN 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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TWIST1, GLN119PRO
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<br />
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SNP: rs104894057,
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ClinVar: RCV000008438
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</span>
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<span class="mim-text-font">
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<p>In affected members of a family with Saethre-Chotzen syndrome (SCS; 101400), Howard et al. (1997) demonstrated a Q119P (gln119-to-pro) mutation in the TWIST gene that most likely resulted in the disruption of the alpha helix in the DNA-binding domain. Therefore, they predicted that the mutation would alter or abolish the ability of this mutant TWIST to bind DNA. </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 SAETHRE-CHOTZEN 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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TWIST1, TYR107TER
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<br />
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SNP: rs104894054,
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ClinVar: RCV000008439
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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 patients with Saethre-Chotzen syndrome (SCS; 101400), El Ghouzzi et al. (1997) identified heterozygosity for 3 nonsense mutations of the TWIST gene. One of these, tyr107 to ter (Y107X), was predicted to result in translation termination upstream of the first helix of the bHLH domain of protein. See also 601622.0004 and 601622.0005. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 SAETHRE-CHOTZEN 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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TWIST1, SER127TER
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<br />
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SNP: rs121909187,
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ClinVar: RCV000008440, RCV001723552, RCV001851736
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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 patients with Saethre-Chotzen syndrome (SCS; 101400), El Ghouzzi et al. (1997) identified a TCG-to-TAG (ser127-to-ter) nonsense mutation in the TWIST gene predicted to result in translation termination within the first helix of the bHLH domain of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 SAETHRE-CHOTZEN 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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TWIST1, GLU130TER
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<br />
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SNP: rs121909188,
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ClinVar: RCV000008441, RCV000706654, RCV001550722
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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 Saethre-Chotzen syndrome (SCS; 101400), El Ghouzzi et al. (1997) identified a GAG-to-CAG transversion of the TWIST gene predicted to result in translation termination within the first helix of the bHLH domain of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 SAETHRE-CHOTZEN 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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TWIST1, LEU135PRO
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<br />
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SNP: rs121909189,
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ClinVar: RCV000008442
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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 Saethre-Chotzen syndrome (SCS; 101400), El Ghouzzi et al. (1997) demonstrated heterozygosity for a T-to-C transition in the TWIST gene, changing codon 135 from CTG (leu) to CCG (pro). The mutation was located within the first helix of the bHLH domain of the protein and affected a highly conserved amino acid. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 SAETHRE-CHOTZEN 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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TWIST1, 21-BP DUP
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<br />
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SNP: rs1585616948,
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ClinVar: RCV000985276, RCV001381187
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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 unrelated patients with Saethre-Chotzen syndrome (SCS; 101400), Rose et al. (1997) identified a 21-bp duplication in the TWIST gene. The authors stated that a total of 8 such duplications had been found in which 5 different nucleotides, spread across 16 bases, had been identified as a start point of the duplication. The start points of the 3 duplications found in this study were nucleotides 418, 419, and 421. In the cases of 418 and 421, the duplication involved the addition of 7 amino acids; in the case of 419, it resulted in a premature stop at codon 139. The remarkably large number of duplications suggested a mechanism involving misalignment of a directly repeated sequence 21 bp apart. El Ghouzzi et al. (1997) had reported 2 hexanucleotide repeats 21 bp apart close to the duplication start points. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 SAETHRE-CHOTZEN 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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TWIST1, GLU181TER
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<br />
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SNP: rs104894058,
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gnomAD: rs104894058,
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ClinVar: RCV000008444
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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>Gripp et al. (1999) described an E181X (glu181-to-ter) mutation in the TWIST gene, predicted to lead to premature termination of the protein carboxy-terminal to the helix 2 domain, in a child with cranial synostosis and unilateral radial aplasia. The diagnosis of Baller-Gerold syndrome (218600) was entertained. After the TWIST mutation was discovered, which pointed to the diagnosis of Saethre-Chotzen syndrome (SCS; 101400), the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 ROBINOW-SORAUF 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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TWIST1, 1-BP INS, 460A
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<br />
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SNP: rs1585616860,
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ClinVar: RCV000008445
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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 proband and his mother affected with Robinow-Sorauf syndrome (180750), Kunz et al. (1999) reported a 1-bp insertion at position 460-461 in the second triplet of the helix II domain, resulting in a frameshift and a stop codon at position 864, and elongating the putative protein product by 88 amino acids. The authors considered this mutation evidence that Robinow-Sorauf syndrome is at least allelic to Saethre-Chotzen syndrome (SCS; 101400), if not part of the phenotypic spectrum of that syndrome, rather than a separate disease entity. </p><p>Cai et al. (2003) suggested that the diagnosis of Robinow-Sorauf syndrome in the family reported by Kunz et al. (1999) could be questioned because the affected individuals lacked certain characteristics, such as syndactyly, that were found repeatedly in all members of the original Robinow-Sorauf pedigree. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 SAETHRE-CHOTZEN 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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TWIST1, ILE156VAL
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<br />
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SNP: rs104894059,
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ClinVar: RCV000008446, RCV002512908
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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>Seto et al. (2001) reported a male patient with features typically associated with Baller-Gerold syndrome (218600), including metopic, sagittal, and coronal craniosynostosis and bilateral radial ray hypoplasia, along with other features, including small, round ears with prominent crus helices and cervical anomalies. The patient was found to have an A-to-G transition at nucleotide 466 in the conserved helix II domain of the TWIST gene, resulting in an ile156-to-val (I156V) substitution. The father, who also carried the mutation, had very mild features of Saethre-Chotzen syndrome (SCS; 101400). Seto et al. (2001) suggested that some cases of Baller-Gerold syndrome should be reclassified as a heterogeneous form of Saethre-Chotzen syndrome. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0011 SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES</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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TWIST1, GLN28TER
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<br />
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SNP: rs104894055,
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ClinVar: RCV000008447, RCV001390391
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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>Dollfus et al. (2001) identified a gln28-to-ter (Q28X) mutation in the TWIST gene in a large Indian family, initially referred because of prominent palpebral anomalies in some members (Maw et al., 1996) sharing features in common with the BPES syndrome (110100). Indeed this was considered to be a separate form of BPES (BPES3). After clinical reappraisal of all members of the family, some of whom were not born at the time of the initial linkage analysis, Dollfus et al. (2002) concluded that the phenotypic expression was compatible with Saethre-Chotzen syndrome (SCS; 101400), with remarkable phenotypic variability. Only 4 of the 16 patients examined showed obvious craniostenosis, namely, oxycephaly. The penetrance of craniosynostosis was lower than previously reported for SCS. Fifteen patients (93%) had moderate to severe ptosis. Minor limb and external ear abnormalities were present in most. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. This phenotypic variability could be the result of modifier genes and/or genetic background effect, as noticed previously in the transgenic Twist-null heterozygous mice. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0012 ROBINOW-SORAUF 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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TWIST1, GLN71TER
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<br />
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SNP: rs104894065,
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ClinVar: RCV000008448, RCV001059805, RCV002283441
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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>Cai et al. (2003) restudied the original family reported by Robinow and Sorauf (1975) and identified heterozygosity for a 221C-T transition in the TWIST gene, resulting in a premature stop codon at amino acid position 71 (Q71X). Cai et al. (2003) stated that they examined 3 of the 11 affected members of the original family with Robinow-Sorauf syndrome (180750) in addition to the propositus and found that all had second interdigital syndactyly as well as a toe deformity (either polydactyly or hallux valgus). Cai et al. (2003) stated that the reported 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and provide further proof that the 'Robinow-Sorauf' syndrome lies within the spectrum of the SCS syndrome. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CRANIOSYNOSTOSIS 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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TWIST1, ALA186THR
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<br />
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SNP: rs121909190,
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ClinVar: RCV000008449
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|
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant with isolated synostosis of the right coronal suture (CRS1; 123100), Seto et al. (2007) identified heterozygosity for a 556G-T transversion in the C-terminal box of the TWIST1 gene, resulting in an ala186-to-thr (A186T) substitution. The patient had no facial anomalies other than the associated facial asymmetry, no 2-3 syndactyly, and neurologic status was normal, although at 18 months of age his mental and psychomotor development was in the low average to mildly delayed range. The mutation was not found in either parent, and there was no family history of craniosynostosis. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 CRANIOSYNOSTOSIS 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TWIST1, SER188LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909191,
|
|
|
|
|
|
gnomAD: rs121909191,
|
|
|
|
|
|
ClinVar: RCV000008450
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant with isolated synostosis of the sagittal suture (CRS1; 123100), Seto et al. (2007) identified heterozygosity for a 563C-T transition in the C-terminal box of the TWIST1 gene, resulting in an ser188-to-leu (S188L) substitution. The patient had no facial anomalies or 2-3 syndactyly, and neurologic status was normal, although at 24 months of age his mental and psychomotor development was mildly delayed. The unaffected father also carried the mutation; both father and son had small, square-shaped ears. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 SWEENEY-COX SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TWIST1, GLU117VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554442016,
|
|
|
|
|
|
|
|
ClinVar: RCV000512820
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with Sweeney-Cox syndrome (SWCOS; 617746), previously reported as 'family 18' by Miller et al. (2017), Kim et al. (2017) demonstrated heterozygosity for a de novo c.350A-T transversion (chr7:19,116,972A-T) in the TWIST1 gene, resulting in a glu117-to-val (E117V) substitution at a highly conserved residue within the basic DNA binding domain. The mutation was not present in either of his biologically confirmed unaffected parents. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SWEENEY-COX SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TWIST1, GLU117GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554442016,
|
|
|
|
|
|
|
|
ClinVar: RCV000513176, RCV003766897
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with Sweeney-Cox syndrome (SWCOS; 617746), Kim et al. (2017) identified heterozygosity for a de novo c.350A-G transition (chr7:19,116,972A-G) in the TWIST1 gene, resulting in a glu117-to-gly (E117G) substitution at a highly conserved residue within the basic DNA binding domain. The mutation was not present in either of her unaffected parents. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
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|
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|
|
</div>
|
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|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
|
|
<ol>
|
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|
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<li>
|
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<p class="mim-text-font">
|
|
Bialek, P., Kern, B., Yang, X., Schrock, M., Sosic, D., Hong, N., Wu, H., Yu, K., Ornitz, D. M., Olson, E. N., Justice, M. J., Karsenty, G.
|
|
<strong>A Twist code determines the onset of osteoblast differentiation.</strong>
|
|
Dev. Cell 6: 423-435, 2004.
|
|
|
|
|
|
[PubMed: 15030764]
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[Full Text: https://doi.org/10.1016/s1534-5807(04)00058-9]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bourgeois, P., Bolcato-Bellemin, A.-L., Danse, J.-M., Bloch-Zupan, A., Yoshiba, K., Stoetzel, C., Perrin-Schmitt, F.
|
|
<strong>The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.</strong>
|
|
Hum. Molec. Genet. 7: 945-957, 1998.
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|
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|
|
[PubMed: 9580658]
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[Full Text: https://doi.org/10.1093/hmg/7.6.945]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F.
|
|
<strong>The human H-twist gene is located at 7p21 and encodes a b-HLH protein that is 96% similar to its murine M-twist counterpart.</strong>
|
|
Mammalian Genome 7: 915-917, 1996.
|
|
|
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|
|
[PubMed: 8995765]
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|
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[Full Text: https://doi.org/10.1007/s003359900269]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Browning, V. L., Chaudhry, S. S., Planchart, A., Dixon, M. J., Schimenti, J. C.
|
|
<strong>Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.</strong>
|
|
Genomics 73: 291-298, 2001.
|
|
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|
|
[PubMed: 11350121]
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[Full Text: https://doi.org/10.1006/geno.2001.6523]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cai, J., Goodman, B. K., Patel, A. S., Mulliken, J. B., Van Maldergem, L., Hoganson, G. E., Paznekas, W. A., Ben-Neriah, Z., Sheffer, R., Cunningham, M. L., Daentl, D. L., Jabs, E. W.
|
|
<strong>Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.</strong>
|
|
Hum. Genet. 114: 68-76, 2003.
|
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|
|
|
[PubMed: 14513358]
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[Full Text: https://doi.org/10.1007/s00439-003-1012-7]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cai, J., Shoo, B. A., Sorauf, T., Jabs, E. W.
|
|
<strong>A novel mutation in th TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. (Letter)</strong>
|
|
Clin. Genet. 64: 79-82, 2003.
|
|
|
|
|
|
[PubMed: 12791045]
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|
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|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00098.x]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Connerney, J., Andreeva, V., Leshem, Y., Muentener, C., Mercado, M. A., Spicer, D. B.
|
|
<strong>Twist1 dimer selection regulates cranial suture patterning and fusion.</strong>
|
|
Dev. Dyn. 235: 1345-1357, 2006. Note: Erratum: Dev. Dyn. 241: 433 only, 2012.
|
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|
|
|
|
[PubMed: 16502419]
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|
|
[Full Text: https://doi.org/10.1002/dvdy.20717]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F.
|
|
<strong>Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.</strong>
|
|
Am. J. Med. Genet. 109: 218-225, 2002.
|
|
|
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|
|
[PubMed: 11977182]
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|
|
[Full Text: https://doi.org/10.1002/ajmg.10349]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.
|
|
<strong>Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter)</strong>
|
|
J. Med. Genet. 38: 470-471, 2001.
|
|
|
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|
|
[PubMed: 11474656]
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|
|
[Full Text: https://doi.org/10.1136/jmg.38.7.470]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
El Ghouzzi, V., Lajeunie, E., Le Merrer, M., Cormier-Daire, V., Renier, D., Munnich, A., Bonaventure, J.
|
|
<strong>Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.</strong>
|
|
Europ. J. Hum. Genet. 7: 27-33, 1999.
|
|
|
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|
|
[PubMed: 10094188]
|
|
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Wilkie, A. O. M.
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<strong>Craniosynostosis: genes and mechanisms.</strong>
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Hum. Molec. Genet. 6: 1647-1656, 1997.
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[PubMed: 9300656]
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[Full Text: https://doi.org/10.1093/hmg/6.10.1647]
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Yang, F., Sun, L., Li, Q., Han, X., Lei, L., Zhang, H., Shang, Y.
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<strong>SET8 promotes epithelial-mesenchymal transition and confers TWIST dual transcriptional activities.</strong>
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EMBO J. 31: 110-123, 2012.
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[PubMed: 21983900]
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[Full Text: https://doi.org/10.1038/emboj.2011.364]
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Yang, J., Mani, S. A., Donaher, J. L., Ramaswamy, S., Itzykson, R. A., Come, C., Savagner, P., Gitelman, I., Richardson, A., Weinberg, R. A.
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<strong>Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis.</strong>
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Cell 117: 927-939, 2004.
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[PubMed: 15210113]
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[Full Text: https://doi.org/10.1016/j.cell.2004.06.006]
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Yousfi, M., Lasmoles, F., El Ghouzzi, V., Marie, P. J.
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<strong>Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNF expression and caspase-2 activation.</strong>
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Hum. Molec. Genet. 11: 359-369, 2002.
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[PubMed: 11854168]
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[Full Text: https://doi.org/10.1093/hmg/11.4.359]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Bao Lige - updated : 11/02/2023<br>Marla J. F. O'Neill - updated : 07/27/2023<br>Matthew B. Gross - updated : 06/02/2023<br>Marla J. F. O'Neill - updated : 10/26/2017<br>Patricia A. Hartz - updated : 4/4/2013<br>Paul J. Converse - updated : 10/2/2012<br>Patricia A. Hartz - updated : 5/6/2009<br>George E. Tiller - updated : 6/5/2008<br>Marla J. F. O'Neill - updated : 6/7/2007<br>Patricia A. Hartz - updated : 7/6/2006<br>Cassandra L. Kniffin - updated : 2/28/2006<br>Victor A. McKusick - updated : 3/29/2005<br>Stylianos E. Antonarakis - updated : 8/4/2004<br>Patricia A. Hartz - updated : 4/20/2004<br>Victor A. McKusick - updated : 12/9/2003<br>Victor A. McKusick - updated : 7/18/2003<br>Stylianos E. Antonarakis - updated : 2/11/2003<br>George E. Tiller - updated : 9/25/2002<br>Victor A. McKusick - updated : 5/22/2002<br>Sonja A. Rasmussen - updated : 1/3/2002<br>Victor A. McKusick - updated : 9/17/2001<br>George E. Tiller - updated : 4/25/2000<br>Victor A. McKusick - updated : 2/22/2000<br>Michael J. Wright - updated : 10/27/1999<br>Victor A. McKusick - updated : 4/21/1999<br>Ada Hamosh - updated : 3/11/1999<br>Stylianos E. Antonarakis - updated : 2/16/1999<br>Victor A. McKusick - updated : 2/14/1999<br>Victor A. McKusick - updated : 2/11/1998<br>Victor A. McKusick - updated : 8/22/1997<br>Victor A. McKusick - updated : 8/15/1997
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Victor A. McKusick : 1/10/1997
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