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Entry
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- *614589 - SKI3 SUBUNIT OF SUPERKILLER COMPLEX; SKIC3
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- OMIM
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<p>
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<span class="h4">*614589</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614589">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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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<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=ENSG00000198677;t=ENST00000358746" 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=9652" 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=614589" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000198677;t=ENST00000358746" 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_014639,XM_047417937,XM_047417938" 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_014639" 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=614589" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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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<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://www.proteinatlas.org/search/SKIC3" 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/7662078,34782861,34785157,74758339,119616443,119616444,929653893,2217358014,2217358016,2462605236" 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/Q6PGP7" 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 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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<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=9652" 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=ENSG00000198677;t=ENST00000358746" 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=SKIC3" 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=SKIC3" 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+9652" 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/SKIC3" 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:9652" 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/9652" 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=chr5&hgg_gene=ENST00000358746.7&hgg_start=95463894&hgg_end=95554977&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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<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:23639" 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:23639" 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/skic3" 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=614589[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=614589[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/SKIC3/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/ENSG00000198677" 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=SKIC3" 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=SKIC3" 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=SKIC3" 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=SKIC3&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/PA162407226" 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:23639" 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/FBgn0033376.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:2679923" 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/SKIC3#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:2679923" 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/9652/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9652" 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=WBGene00021613;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-110125-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9652" 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=SKIC3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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614589
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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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SKI3 SUBUNIT OF SUPERKILLER COMPLEX; SKIC3
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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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TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 37; TTC37<br />
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KIAA0372
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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=SKIC3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SKIC3</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/5/329?start=-3&limit=10&highlight=329">5q15</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:95463894-95554977&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'})">5:95,463,894-95,554,977</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/5/329?start=-3&limit=10&highlight=329">
|
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5q15
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Trichohepatoenteric syndrome 1
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/entry/222470"> 222470 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/614589" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614589" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> cloned TTC37, which they designated KIAA0372. The deduced protein contains 1,564 amino acids. RT-PCR analysis detected high expression in placenta and low expression in kidney and ovary. Little to no expression was detected in all other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C. <strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong> Hum. Mutat. 32: 277-281, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>] [<a href="https://doi.org/10.1002/humu.21420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21120949">Fabre et al. (2011)</a> assessed quantitative expression of TTC37 in a panel of 48 different tissues and found that TTC37 is widely expressed, with the highest levels observed in vascular tissues, lymph node, pituitary, lung, and intestine. They found no expression in liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> mapped the TTC37 gene to chromosome 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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="Amberger, J. S. <strong>Personal Communication.</strong> Baltimore, Md. 4/24/2012."None>Amberger (2012)</a> mapped the TTC37 gene (SKIC3) to chromosome 5q15 based on an alignment of the TTC37 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB002370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB002370</a>) with the genomic sequence (GRCh37).</p>
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<p>In 12 children from 11 unrelated families with trichohepatoenteric syndrome mapping to chromosome 5q14.3-q21.2 (THES1; <a href="/entry/222470">222470</a>), <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a> identified homozygosity or compound heterozygosity for 9 different mutations in the candidate gene TTC37 (see, e.g., <a href="#0001">614589.0001</a>-<a href="#0005">614589.0005</a>). Preliminary studies in 5 patients of enterocyte brush-border ion transporter proteins, including NHE2 (SLC9A2; <a href="/entry/600530">600530</a>), NHE3 (SLC9A3; <a href="/entry/182307">182307</a>), NIS (SLC5A5; <a href="/entry/601843">601843</a>), AQP7 (<a href="/entry/602974">602974</a>), and H/K ATPase (see ATP4A, <a href="/entry/137216">137216</a>), demonstrated reduced expression or mislocalization compared to controls. <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a> suggested that the multisystem effect of TTC37 mutations might be due to abnormal stability and/or intracellular localization of TTC37 target proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C. <strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong> Hum. Mutat. 32: 277-281, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>] [<a href="https://doi.org/10.1002/humu.21420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21120949">Fabre et al. (2011)</a> analyzed the TTC37 gene in 12 THES patients from 11 families and identified homozygosity or compound heterozygosity for 11 different mutations in 9 of the patients (see, e.g., <a href="#0006">614589.0006</a>-<a href="#0008">614589.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old Saudi girl with THES and numerous cafe-au-lait spots below the waist, <a href="#5" class="mim-tip-reference" title="Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A. <strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong> J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>] [<a href="https://doi.org/10.1097/MPG.0000000000000627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714577">Monies et al. (2015)</a> screened a gastrointestinal disease-associated gene panel and identified homozygosity for a nonsense mutation in the TTC37 gene (Q1368X; <a href="#0009">614589.0009</a>) that segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" 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 2 brothers from a consanguineous family of Somalian descent who died in infancy with THES, <a href="#4" class="mim-tip-reference" title="Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M. <strong>Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.</strong> BMC Med. Genet. 18: 26, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28292286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28292286</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28292286[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/10.1186/s12881-017-0388-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28292286">Kinnear et al. (2017)</a> identified homozygosity for a missense mutation in the TTC37 gene (R1503C; <a href="#0010">614589.0010</a>). The mutation was confirmed by Sanger sequencing, which also showed that their parents and sister were heterozygous for the variant. The authors stated that these were the first reported Somali patients with THES, and noted that THES had not been previously diagnosed in South Africa, where consanguinity was uncommon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28292286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs534237033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs534237033;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/rs534237033?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=rs534237033" 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=rs534237033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 children with trichohepatoenteric syndrome (THES1; <a href="/entry/222470">222470</a>), including 2 sisters from an Indian family and 2 boys from 2 unrelated consanguineous Pakistani families, <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a> identified homozygosity for a 2808G-A transition in exon 28 of the TTC37 (SKIC3) gene, resulting in a trp936-to-ter (W936X) substitution. SNP haplotypes in the affected individuals were identical over a 974-kb region containing TTC37, from SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs255375;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs255375</a> to SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34897;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs34897</a>, consistent with a founder mutation. The mutation segregated with disease in each family and was not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. All 4 children had intrauterine growth retardation, villous atrophy on jejunal biopsies, and trichorrhexis nodosa. The Indian sisters, who both exhibited thrombocytosis and large platelets, died at 6 months of age; 1 sib also had a ventricular septal defect. The Pakistani boys had no platelet abnormalities or cardiac defects; 1 died at 8 years of age, whereas the other was alive at 1 year of age. Analysis of enterocyte brush-border ion transporter proteins in 1 of the patients demonstrated that apical expression of AQP7 (<a href="/entry/602974">602974</a>) was absent, suggesting that TTC37 may regulate expression of AQP7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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=RCV000024230" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024230" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024230</a>
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<p>In an 11-year-old Pakistani girl and an unrelated 3.5-year-old Pakistani boy with trichohepatoenteric syndrome-1 (THES1; <a href="/entry/222470">222470</a>), both from consanguineous families, <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a> identified homozygosity for a G-A transition at -2 in intron 28 (2779-2G-A) in the TTC37 (SKIC3) gene, predicted to cause skipping of exon 29 and premature termination. The mutation segregated with disease in both families and was not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. Both children had intrauterine growth retardation, characteristic facial dysmorphology, villous atrophy on jejunal biopsies, trichorrhexis nodosa, and low immunoglobulins, and both exhibited developmental delay. In addition, the girl had mild aortic insufficiency and the boy had peripheral pulmonary stenosis. Analysis of enterocyte brush-border ion transporter proteins in the 2 patients demonstrated that apical expression of H/K ATPase (see ATP4A, <a href="/entry/137216">137216</a>) was reduced and that of AQP7 (<a href="/entry/602974">602974</a>) was absent, and there was mislocalization of NHE2 (SLC9A2; <a href="/entry/600530">600530</a>), NHE3 (SLC9A3; <a href="/entry/182307">182307</a>), and NIS (SLC5A5; <a href="/entry/601843">601843</a>) compared to controls, suggesting that the multisystem effect of TTC37 mutations might be due to abnormal stability and/or intracellular localization of TTC37 target proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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">rs1060499527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1060499527;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=rs1060499527" 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=rs1060499527" 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=RCV000024231" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024231" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024231</a>
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<p>In a 2.5-year-old girl from a consanguineous Kurdish family with trichohepatoenteric syndrome-1 (THES1; <a href="/entry/222470">222470</a>), <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a> identified homozygosity for a 1-bp deletion in intron 17 (1632+1delG) of the TTC37 (SKIC3) gene, producing a frameshift predicted to result in a premature termination codon. The mutation segregated with disease in the family and was not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. Analysis of enterocyte brush-border ion transporter proteins in the patient demonstrated that apical expression of H/K ATPase (see ATP4A, <a href="/entry/137216">137216</a>) was reduced and that of AQP7 (<a href="/entry/602974">602974</a>) was absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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">rs387907147 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907147;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=rs387907147" 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=rs387907147" 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=RCV000024232" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024232" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024232</a>
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<p>In a 13-year-old Italian girl with trichohepatoenteric syndrome-1 (THES1; <a href="/entry/222470">222470</a>), <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a> identified compound heterozygosity for a 439C-T transition in exon 8 of the TTC37 (SKIC3) gene, resulting in a gln147-to-ter (Q147X) substitution, and a 2251C-T transition in exon 21, resulting in a gln751-to-ter (Q751X; <a href="#0005">614589.0005</a>) substitution. The mutations segregated with disease in the family and were not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. Features in this patient included intrauterine growth retardation, characteristic facial dysmorphology, villous atrophy on jejunal biopsy, trichorrhexis nodosa, diffuse hypopigmentation of the skin, low immunoglobulins, aortic insufficiency, and developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" 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">rs387907148 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907148;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=rs387907148" 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=rs387907148" 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=RCV000024233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024233</a>
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<p>For discussion of the gln751-to-ter (Q751X) mutation in the TTC37 (SKIC3) gene that was found in compound heterozygous state in a patient with trichohepatoenteric syndrome-1 (THES1; <a href="/entry/222470">222470</a>) by <a href="#3" class="mim-tip-reference" title="Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R. <strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong> Gastroenterology 138: 2388-2398, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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/10.1053/j.gastro.2010.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20176027">Hartley et al. (2010)</a>, see <a href="#0004">614589.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20176027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 TRICHOHEPATOENTERIC SYNDROME 1</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">rs1060499528 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1060499528;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=rs1060499528" 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=rs1060499528" 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=RCV000024234 OR RCV001857365" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024234, RCV001857365" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024234...</a>
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<p>In a North African patient with trichohepatoenteric syndrome (THES1; <a href="/entry/222470">222470</a>), <a href="#2" class="mim-tip-reference" title="Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C. <strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong> Hum. Mutat. 32: 277-281, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>] [<a href="https://doi.org/10.1002/humu.21420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21120949">Fabre et al. (2011)</a> identified homozygosity for a G-C transversion in intron 23 (2515+1G-C) of the TTC37 (SKIC3) gene. Direct sequencing of RNA transcripts from lymphoblastoid cells revealed that the mutation caused a frameshift and creation of a premature termination codon. The mutation was found in heterozygosity in the unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 TRICHOHEPATOENTERIC SYNDROME 1</strong>
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SKIC3, IVS24, 5-BP DEL, -7
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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> rs746874042 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs746874042;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/rs746874042?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=rs746874042" 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=rs746874042" 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=RCV000024235 OR RCV000767540" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024235, RCV000767540" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024235...</a>
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<p>In a French patient with trichohepatoenteric syndrome-1 (THES1; <a href="/entry/222470">222470</a>), <a href="#2" class="mim-tip-reference" title="Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C. <strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong> Hum. Mutat. 32: 277-281, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>] [<a href="https://doi.org/10.1002/humu.21420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21120949">Fabre et al. (2011)</a> identified compound heterozygosity for a 5-bp deletion in IVS24 (2577-7_-3delTTTTT) of the TTC37 (SKIC3) gene, and a G-C transversion in IVS42 (4620+1G-C; <a href="#0008">614589.0008</a>). Direct sequencing of RNA transcripts from lymphoblastoid cells revealed that the 2577-7_-3delTTTTT mutation caused skipping of exon 25, resulting in the deletion of 19 in-frame amino acids, whereas the 4620+1G-C mutation caused cryptic splice activation in exon 42, resulting in alternative splicing and the replacement of the 41 terminal amino acids by 61 others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs370373017 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs370373017;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/rs370373017?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=rs370373017" 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=rs370373017" 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=RCV000024236" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024236" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024236</a>
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<p>For discussion of the splice site mutation in the TTC37 (SKIC3) gene (4620+1G-C) that was found in compound heterozygous state in a patient with trichohepatoenteric syndrome-1 (THES1; <a href="/entry/222470">222470</a>) by <a href="#2" class="mim-tip-reference" title="Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C. <strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong> Hum. Mutat. 32: 277-281, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>] [<a href="https://doi.org/10.1002/humu.21420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21120949">Fabre et al. (2011)</a>, see <a href="#0007">614589.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 TRICHOHEPATOENTERIC SYNDROME 1</strong>
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SKIC3, GLN1368TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002290871 OR RCV003492752 OR RCV003560931" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002290871, RCV003492752, RCV003560931" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002290871...</a>
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<p>In a 12-year-old Saudi girl (family 2, II-9) with trichohepatoenteric syndrome and numerous cafe-au-lait spots on the skin below the waist (THES1; <a href="/entry/222470">222470</a>), <a href="#5" class="mim-tip-reference" title="Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A. <strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong> J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>] [<a href="https://doi.org/10.1097/MPG.0000000000000627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714577">Monies et al. (2015)</a> screened a gastrointestinal disease-associated gene panel and identified homozygosity for a c.4102C-T transition in exon 39 of the TTC37 gene, resulting in a gln1368-to-ter (Q1368X) substitution within the tetratricopeptide-like helical domain. The mutation segregated with disease in the family. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" 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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SKIC3, ARG1503CYS (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200067423;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs200067423</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200067423 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200067423;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/rs200067423?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=rs200067423" 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=rs200067423" 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=RCV000262565 OR RCV002282106 OR RCV002291216" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000262565, RCV002282106, RCV002291216" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000262565...</a>
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<p>In 2 brothers from a consanguineous family of Somalian descent who died in infancy with trichohepatoenteric syndrome (THES1; <a href="/entry/222470">222470</a>), <a href="#4" class="mim-tip-reference" title="Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M. <strong>Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.</strong> BMC Med. Genet. 18: 26, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28292286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28292286</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28292286[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/10.1186/s12881-017-0388-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28292286">Kinnear et al. (2017)</a> identified homozygosity for a c.4507C-T transition (c.4507C-T, NM_014639) in exon 42 of the TTC37 gene, resulting in an arg1503-to-cys (R1503C) substitution at a highly conserved residue. The mutation was confirmed by Sanger sequencing, which also showed that their parents and sister were heterozygous for the variant. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28292286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Amberger, J. S.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/24/2012.
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Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C.
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<strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong>
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Hum. Mutat. 32: 277-281, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21420" target="_blank">Full Text</a>]
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Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R.
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<strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong>
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Gastroenterology 138: 2388-2398, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20176027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20176027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20176027[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=20176027" 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/10.1053/j.gastro.2010.02.010" target="_blank">Full Text</a>]
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Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M.
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<strong>Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.</strong>
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BMC Med. Genet. 18: 26, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28292286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28292286</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28292286[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=28292286" 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/10.1186/s12881-017-0388-5" target="_blank">Full Text</a>]
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<a id="Monies2015" class="mim-anchor"></a>
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Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A.
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<strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong>
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J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MPG.0000000000000627" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Nagase1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 4: 141-150, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/4.2.141" 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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Marla J. F. O'Neill - updated : 10/10/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/27/2012
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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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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Joanna S. Amberger : 4/24/2012
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 10/11/2022
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<span class="mim-text-font">
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alopez : 10/10/2022<br>alopez : 07/29/2022<br>alopez : 06/09/2016<br>carol : 8/11/2015<br>mcolton : 8/10/2015<br>carol : 9/11/2013<br>mgross : 2/26/2013<br>carol : 4/27/2012<br>mgross : 4/24/2012<br>joanna : 4/24/2012
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<span class="mim-font">
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<strong>*</strong> 614589
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<h3>
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SKI3 SUBUNIT OF SUPERKILLER COMPLEX; SKIC3
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<em>Alternative titles; symbols</em>
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TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 37; TTC37<br />
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KIAA0372
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SKIC3</em></strong>
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Cytogenetic location: 5q15
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:95,463,894-95,554,977 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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5q15
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<span class="mim-font">
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Trichohepatoenteric syndrome 1
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</td>
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<span class="mim-font">
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222470
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, Nagase et al. (1997) cloned TTC37, which they designated KIAA0372. The deduced protein contains 1,564 amino acids. RT-PCR analysis detected high expression in placenta and low expression in kidney and ovary. Little to no expression was detected in all other tissues examined. </p><p>Fabre et al. (2011) assessed quantitative expression of TTC37 in a panel of 48 different tissues and found that TTC37 is widely expressed, with the highest levels observed in vascular tissues, lymph node, pituitary, lung, and intestine. They found no expression in liver. </p>
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<strong>Mapping</strong>
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</span>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Nagase et al. (1997) mapped the TTC37 gene to chromosome 5. </p><p>Amberger (2012) mapped the TTC37 gene (SKIC3) to chromosome 5q15 based on an alignment of the TTC37 sequence (GenBank AB002370) with the genomic sequence (GRCh37).</p>
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<strong>Molecular Genetics</strong>
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<p>In 12 children from 11 unrelated families with trichohepatoenteric syndrome mapping to chromosome 5q14.3-q21.2 (THES1; 222470), Hartley et al. (2010) identified homozygosity or compound heterozygosity for 9 different mutations in the candidate gene TTC37 (see, e.g., 614589.0001-614589.0005). Preliminary studies in 5 patients of enterocyte brush-border ion transporter proteins, including NHE2 (SLC9A2; 600530), NHE3 (SLC9A3; 182307), NIS (SLC5A5; 601843), AQP7 (602974), and H/K ATPase (see ATP4A, 137216), demonstrated reduced expression or mislocalization compared to controls. Hartley et al. (2010) suggested that the multisystem effect of TTC37 mutations might be due to abnormal stability and/or intracellular localization of TTC37 target proteins. </p><p>Fabre et al. (2011) analyzed the TTC37 gene in 12 THES patients from 11 families and identified homozygosity or compound heterozygosity for 11 different mutations in 9 of the patients (see, e.g., 614589.0006-614589.0008). </p><p>In a 12-year-old Saudi girl with THES and numerous cafe-au-lait spots below the waist, Monies et al. (2015) screened a gastrointestinal disease-associated gene panel and identified homozygosity for a nonsense mutation in the TTC37 gene (Q1368X; 614589.0009) that segregated with disease in the family. </p><p>In 2 brothers from a consanguineous family of Somalian descent who died in infancy with THES, Kinnear et al. (2017) identified homozygosity for a missense mutation in the TTC37 gene (R1503C; 614589.0010). The mutation was confirmed by Sanger sequencing, which also showed that their parents and sister were heterozygous for the variant. The authors stated that these were the first reported Somali patients with THES, and noted that THES had not been previously diagnosed in South Africa, where consanguinity was uncommon. </p>
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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>10 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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<h4>
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<span class="mim-font">
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<strong>.0001 TRICHOHEPATOENTERIC SYNDROME 1</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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SKIC3, TRP936TER
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<br />
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SNP: rs534237033,
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gnomAD: rs534237033,
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ClinVar: RCV000176881, RCV000519180
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</span>
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<div>
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<span class="mim-text-font">
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<p>In 4 children with trichohepatoenteric syndrome (THES1; 222470), including 2 sisters from an Indian family and 2 boys from 2 unrelated consanguineous Pakistani families, Hartley et al. (2010) identified homozygosity for a 2808G-A transition in exon 28 of the TTC37 (SKIC3) gene, resulting in a trp936-to-ter (W936X) substitution. SNP haplotypes in the affected individuals were identical over a 974-kb region containing TTC37, from SNP rs255375 to SNP rs34897, consistent with a founder mutation. The mutation segregated with disease in each family and was not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. All 4 children had intrauterine growth retardation, villous atrophy on jejunal biopsies, and trichorrhexis nodosa. The Indian sisters, who both exhibited thrombocytosis and large platelets, died at 6 months of age; 1 sib also had a ventricular septal defect. The Pakistani boys had no platelet abnormalities or cardiac defects; 1 died at 8 years of age, whereas the other was alive at 1 year of age. Analysis of enterocyte brush-border ion transporter proteins in 1 of the patients demonstrated that apical expression of AQP7 (602974) was absent, suggesting that TTC37 may regulate expression of AQP7. </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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<h4>
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<span class="mim-font">
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<strong>.0002 TRICHOHEPATOENTERIC SYNDROME 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, IVS28AS, G-A, -2
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<br />
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ClinVar: RCV000024230
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an 11-year-old Pakistani girl and an unrelated 3.5-year-old Pakistani boy with trichohepatoenteric syndrome-1 (THES1; 222470), both from consanguineous families, Hartley et al. (2010) identified homozygosity for a G-A transition at -2 in intron 28 (2779-2G-A) in the TTC37 (SKIC3) gene, predicted to cause skipping of exon 29 and premature termination. The mutation segregated with disease in both families and was not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. Both children had intrauterine growth retardation, characteristic facial dysmorphology, villous atrophy on jejunal biopsies, trichorrhexis nodosa, and low immunoglobulins, and both exhibited developmental delay. In addition, the girl had mild aortic insufficiency and the boy had peripheral pulmonary stenosis. Analysis of enterocyte brush-border ion transporter proteins in the 2 patients demonstrated that apical expression of H/K ATPase (see ATP4A, 137216) was reduced and that of AQP7 (602974) was absent, and there was mislocalization of NHE2 (SLC9A2; 600530), NHE3 (SLC9A3; 182307), and NIS (SLC5A5; 601843) compared to controls, suggesting that the multisystem effect of TTC37 mutations might be due to abnormal stability and/or intracellular localization of TTC37 target proteins. </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 TRICHOHEPATOENTERIC SYNDROME 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, IVS17, 1-BP DEL, G, +1
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<br />
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SNP: rs1060499527,
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ClinVar: RCV000024231
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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 2.5-year-old girl from a consanguineous Kurdish family with trichohepatoenteric syndrome-1 (THES1; 222470), Hartley et al. (2010) identified homozygosity for a 1-bp deletion in intron 17 (1632+1delG) of the TTC37 (SKIC3) gene, producing a frameshift predicted to result in a premature termination codon. The mutation segregated with disease in the family and was not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. Analysis of enterocyte brush-border ion transporter proteins in the patient demonstrated that apical expression of H/K ATPase (see ATP4A, 137216) was reduced and that of AQP7 (602974) was absent. </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 TRICHOHEPATOENTERIC SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, GLN147TER
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<br />
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SNP: rs387907147,
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ClinVar: RCV000024232
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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 13-year-old Italian girl with trichohepatoenteric syndrome-1 (THES1; 222470), Hartley et al. (2010) identified compound heterozygosity for a 439C-T transition in exon 8 of the TTC37 (SKIC3) gene, resulting in a gln147-to-ter (Q147X) substitution, and a 2251C-T transition in exon 21, resulting in a gln751-to-ter (Q751X; 614589.0005) substitution. The mutations segregated with disease in the family and were not found in at least 350 ethnically matched South Asian and Caucasian control chromosomes. Features in this patient included intrauterine growth retardation, characteristic facial dysmorphology, villous atrophy on jejunal biopsy, trichorrhexis nodosa, diffuse hypopigmentation of the skin, low immunoglobulins, aortic insufficiency, and developmental delay. </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 TRICHOHEPATOENTERIC SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, GLN751TER
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<br />
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SNP: rs387907148,
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ClinVar: RCV000024233
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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>For discussion of the gln751-to-ter (Q751X) mutation in the TTC37 (SKIC3) gene that was found in compound heterozygous state in a patient with trichohepatoenteric syndrome-1 (THES1; 222470) by Hartley et al. (2010), see 614589.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 TRICHOHEPATOENTERIC SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, IVS23DS, G-C, +1
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<br />
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SNP: rs1060499528,
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ClinVar: RCV000024234, RCV001857365
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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 North African patient with trichohepatoenteric syndrome (THES1; 222470), Fabre et al. (2011) identified homozygosity for a G-C transversion in intron 23 (2515+1G-C) of the TTC37 (SKIC3) gene. Direct sequencing of RNA transcripts from lymphoblastoid cells revealed that the mutation caused a frameshift and creation of a premature termination codon. The mutation was found in heterozygosity in the unaffected parents. </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 TRICHOHEPATOENTERIC SYNDROME 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, IVS24, 5-BP DEL, -7
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<br />
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SNP: rs746874042,
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gnomAD: rs746874042,
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ClinVar: RCV000024235, RCV000767540
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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 French patient with trichohepatoenteric syndrome-1 (THES1; 222470), Fabre et al. (2011) identified compound heterozygosity for a 5-bp deletion in IVS24 (2577-7_-3delTTTTT) of the TTC37 (SKIC3) gene, and a G-C transversion in IVS42 (4620+1G-C; 614589.0008). Direct sequencing of RNA transcripts from lymphoblastoid cells revealed that the 2577-7_-3delTTTTT mutation caused skipping of exon 25, resulting in the deletion of 19 in-frame amino acids, whereas the 4620+1G-C mutation caused cryptic splice activation in exon 42, resulting in alternative splicing and the replacement of the 41 terminal amino acids by 61 others. </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>.0008 TRICHOHEPATOENTERIC SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SKIC3, IVS42DS, G-C, +1
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<br />
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SNP: rs370373017,
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gnomAD: rs370373017,
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ClinVar: RCV000024236
|
|
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|
|
</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the TTC37 (SKIC3) gene (4620+1G-C) that was found in compound heterozygous state in a patient with trichohepatoenteric syndrome-1 (THES1; 222470) by Fabre et al. (2011), see 614589.0007. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
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</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 TRICHOHEPATOENTERIC SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
SKIC3, GLN1368TER
|
|
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|
|
|
<br />
|
|
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|
|
|
|
|
ClinVar: RCV002290871, RCV003492752, RCV003560931
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old Saudi girl (family 2, II-9) with trichohepatoenteric syndrome and numerous cafe-au-lait spots on the skin below the waist (THES1; 222470), Monies et al. (2015) screened a gastrointestinal disease-associated gene panel and identified homozygosity for a c.4102C-T transition in exon 39 of the TTC37 gene, resulting in a gln1368-to-ter (Q1368X) substitution within the tetratricopeptide-like helical domain. The mutation segregated with disease in the family. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 TRICHOHEPATOENTERIC SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC3, ARG1503CYS ({dbSNP rs200067423})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200067423,
|
|
|
|
|
|
gnomAD: rs200067423,
|
|
|
|
|
|
ClinVar: RCV000262565, RCV002282106, RCV002291216
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers from a consanguineous family of Somalian descent who died in infancy with trichohepatoenteric syndrome (THES1; 222470), Kinnear et al. (2017) identified homozygosity for a c.4507C-T transition (c.4507C-T, NM_014639) in exon 42 of the TTC37 gene, resulting in an arg1503-to-cys (R1503C) substitution at a highly conserved residue. The mutation was confirmed by Sanger sequencing, which also showed that their parents and sister were heterozygous for the variant. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
|
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|
<div>
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|
<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Amberger, J. S.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 4/24/2012.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fabre, A., Martinez-Vinson, C., Roquelaure, B., Missirian, C., Andre, N., Breton, A., Lachaux, A., Odul, E., Colomb, V., Lemale, J., Cezard, J.-P., Goulet, O., Sarles, J., Levy, N., Badens, C.
|
|
<strong>Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.</strong>
|
|
Hum. Mutat. 32: 277-281, 2011.
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[PubMed: 21120949]
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[Full Text: https://doi.org/10.1002/humu.21420]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hartley, J. L., Zachos, N. C., Dawood, B., Donowitz, M., Forman, J., Pollitt, R. J., Morgan, N. V., Tee, L., Gissen, P., Kahr, W. H. A., Knisely, A. S., Watson, S., Chitayat, D., Booth, I. W., Protheroe, S., Murphy, S., De Vries, E., Kelly, D. A., Maher, E. R.
|
|
<strong>Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).</strong>
|
|
Gastroenterology 138: 2388-2398, 2010.
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[PubMed: 20176027]
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[Full Text: https://doi.org/10.1053/j.gastro.2010.02.010]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kinnear, C., Glanzmann, B., Banda, E., Schlechter, N., Durrheim, G., Neethling, A., Nel, E., Schoeman, M., Johnson, G., van Helden, P. D., Hoal, E. G., Esser, M., Urban, M., Moller, M.
|
|
<strong>Exome sequencing identifies a novel TTC37 mutation in the first reported case of trichohepatoenteric syndrome (THE-S) in South Africa.</strong>
|
|
BMC Med. Genet. 18: 26, 2017.
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[PubMed: 28292286]
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[Full Text: https://doi.org/10.1186/s12881-017-0388-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A.
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|
<strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong>
|
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J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.
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[PubMed: 25714577]
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[Full Text: https://doi.org/10.1097/MPG.0000000000000627]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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|
<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
|
DNA Res. 4: 141-150, 1997.
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[PubMed: 9205841]
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[Full Text: https://doi.org/10.1093/dnares/4.2.141]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/10/2022<br>Marla J. F. O'Neill - updated : 4/27/2012
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</span>
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</div>
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</div>
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<br />
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Joanna S. Amberger : 4/24/2012
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</span>
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</div>
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</div>
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/11/2022<br>alopez : 10/10/2022<br>alopez : 07/29/2022<br>alopez : 06/09/2016<br>carol : 8/11/2015<br>mcolton : 8/10/2015<br>carol : 9/11/2013<br>mgross : 2/26/2013<br>carol : 4/27/2012<br>mgross : 4/24/2012<br>joanna : 4/24/2012
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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