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Entry
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- *604237 - CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1
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- OMIM
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<p>
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<span class="h4">*604237</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604237">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<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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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000006016;t=ENST00000392386" 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=9244" 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=604237" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000006016;t=ENST00000392386" 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_004750" 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_004750" 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=604237" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=09177&isoform_id=09177_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CRLF1" 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/3372627,4758062,5106395,5853248,27882444,37181702,44887813,119605131" 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/O75462" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=9244" 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=ENSG00000006016;t=ENST00000392386" 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=CRLF1" 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=CRLF1" 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+9244" 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/CRLF1" 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:9244" 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/9244" 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=chr19&hgg_gene=ENST00000392386.8&hgg_start=18593237&hgg_end=18606799&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/crlf1" 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=604237[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=604237[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://gnomad.broadinstitute.org/gene/ENSG00000006016" 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=CRLF1" 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=CRLF1" 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=CRLF1" 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=CRLF1&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/PA26882" 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:2364" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1340030" 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/CRLF1#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:1340030" 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/9244/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=9244" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040718-397" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CRLF1&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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604237
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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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CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1
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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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CLF1<br />
|
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NR6
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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=CRLF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CRLF1</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/19/470?start=-3&limit=10&highlight=470">19p13.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:18593237-18606799&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'})">19:18,593,237-18,606,799</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/19/470?start=-3&limit=10&highlight=470">
|
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19p13.11
|
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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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Cold-induced sweating 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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<a href="/entry/272430"> 272430 </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/604237" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604237" 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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|
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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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>The CRLF1 gene encodes cytokine receptor-like factor-1, a soluble protein that is a member of the ciliary neurotrophic factor receptor pathway. CRLF1 forms a complex with CLCF1 (<a href="/entry/607672">607672</a>), and this complex binds to the ciliary neurotrophic factor receptor (CNTFR; <a href="/entry/118946">118946</a>) to induce downstream signaling events (<a href="#7" class="mim-tip-reference" title="Elson, G. C. A., Lelievre, E., Guillet, C., Chevalier, S., Plun-Favreau, H., Froger, J., Suard, I., de Coignac, A. B., Delneste, Y., Bonnefoy, J.-Y., Gauchat, J.-F., Gascan, H. <strong>CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex.</strong> Nature Neurosci. 3: 867-872, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966616</a>] [<a href="https://doi.org/10.1038/78765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966616">Elson et al., 2000</a>; summary by <a href="#9" class="mim-tip-reference" title="Herholz, J., Meloni, A., Marongiu, M., Chiappe, F., Deiana, M., Herrero, C. R., Zampino, G., Hamamy, H., Zalloum, Y., Waaler, P. E., Crisponi, G., Crisponi, L., Rutsch, F. <strong>Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</strong> Europ. J. Hum. Genet. 19: 525-533, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21326283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326283">Herholz et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21326283+10966616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Elson, G. C. A., Graber, P., Losberger, C., Herren, S., Gretener, D., Menoud, L. N., Wells, T. N. C., Kosco-Vilbois, M. H., Gauchat, J.-F. <strong>Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family.</strong> J. Immun. 161: 1371-1379, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686600</a>]" pmid="9686600">Elson et al. (1998)</a> described the identification, cloning, and expression pattern of human cytokine-like factor-1, which they designated CLF1, as well as the identification and cloning of the mouse homolog. They were identified from expressed sequence tags using amino acid sequences from conserved regions of the cytokine type I receptor family. The human and mouse CRLF1 proteins share 96% amino acid identity and significant homology with many cytokine type I receptors. The human cDNA encodes a precursor protein of 422 amino acids with a putative signal peptide of 37 amino acids. CRLF1 is a secreted protein, suggesting that it is either a soluble subunit within a cytokine receptor complex, like the soluble form of IL6R (<a href="/entry/147880">147880</a>), or a subunit of a multimeric cytokine, e.g., IL12B (<a href="/entry/161561">161561</a>). The highest levels of CRLF1 mRNA were observed in lymph node, spleen, thymus, appendix, placenta, stomach, and fetal lung, with constitutive expression of CRLF1 mRNA detected in a human kidney fibroblast cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an oligonucleotide encoding the conserved WSXWS (single-letter amino acid code) motif present in the extracellular domains of hemopoietin receptors, <a href="#1" class="mim-tip-reference" title="Alexander, W. S., Rakar, S., Robb, L., Farley, A., Willson, T. A., Zhang, J.-G., Hartley, L., Kikuchi, Y., Kojima, T., Nomura, H., Hasegawa, M., Maeda, M., Fabri, L., Jachno, K., Nash, A., Metcalf, D., Nicola, N. A., Hilton, D. J. <strong>Suckling defect in mice lacking the soluble haemopoietin receptor NR6.</strong> Curr. Biol. 9: 605-608, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359701</a>] [<a href="https://doi.org/10.1016/s0960-9822(99)80266-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10359701">Alexander et al. (1999)</a> isolated a Crlf1 cDNA, which they called Nr6, from mouse testis, brain, and KUSA cell line cDNA libraries. Most of the clones contained a long open reading frame (Nr6.1) of 1,275 nucleotides. The predicted protein sequence is consistent with that of a hemopoietin receptor: a potential signal sequence and immunoglobulin-like domain precedes a hemopoietin domain containing the expected cysteine pairs and a WSEWS motif, and a sequence with loose homology to part of the fibronectin type III repeat is evident at the C terminus. Independent clones were also isolated with deduced open reading frames (Nr6.2 and Nr6.3) that contain divergent sequences C-terminal to the hemopoietin domain. Human NR6 cDNAs, all of which were homologs of murine Nr6.1, were isolated using low-stringency hybridization of murine probes to fetal kidney, fetal liver, and placenta libraries. No hydrophobic sequences typical of a transmembrane domain and no motifs usually required for membrane association via lipid attachment were evident, indicating that NR6 is a soluble member of the hemopoietin receptor family. The primary amino acid sequences of human and mouse NR6.1 are 98% identical. Although NR6 was found to have sequence similarity to membrane-bound hemopoietin receptors, structurally it appeared to be analogous to the 2 other exclusively soluble members of the hemopoietin receptor family, the p40 component of IL12 (IL12B) and EBI3 (<a href="/entry/605816">605816</a>), a 34-kD glycoprotein secreted by B lymphocytes in response to Epstein-Barr virus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10359701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Elson, G. C. A., de Coignac, A. B., Aubrey, J.-P., Delneste, Y., Magistrelli, G., Holzwarth, J., Bonnefoy, J.-Y., Gauchat, J.-F. <strong>BSMAP, a novel protein expressed specifically in the brain whose gene is localized on chromosome 19p12.</strong> Biochem. Biophys. Res. Commun. 264: 55-62, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10527841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10527841</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1481" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10527841">Elson et al. (1999)</a> determined that the CRLF1 gene has 9 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10527841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Elson, G. C. A., Graber, P., Losberger, C., Herren, S., Gretener, D., Menoud, L. N., Wells, T. N. C., Kosco-Vilbois, M. H., Gauchat, J.-F. <strong>Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family.</strong> J. Immun. 161: 1371-1379, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686600</a>]" pmid="9686600">Elson et al. (1998)</a> found the CRLF1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AC003112" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AC003112</a>) within a 14-kb region of a chromosome 19-specific cosmid mapping to 19p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In fibroblast primary cell cultures, <a href="#6" class="mim-tip-reference" title="Elson, G. C. A., Graber, P., Losberger, C., Herren, S., Gretener, D., Menoud, L. N., Wells, T. N. C., Kosco-Vilbois, M. H., Gauchat, J.-F. <strong>Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family.</strong> J. Immun. 161: 1371-1379, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686600</a>]" pmid="9686600">Elson et al. (1998)</a> found that CRLF1 mRNA was upregulated by TNF-alpha (<a href="/entry/191160">191160</a>), interleukin-6 (<a href="/entry/147620">147620</a>), and gamma-interferon (<a href="/entry/147570">147570</a>). Western blot analysis of recombinant forms of CRLF1 showed that the protein has the tendency to form covalently linked dimers and tetramers. These results suggested that CRLF1 is a novel soluble cytokine receptor subunit or part of a novel cytokine complex, possibly playing a regulatory role in the immune system and during fetal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686600" 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>CRLF1 competes with ciliary neurotrophic factor (CNTF; <a href="/entry/118945">118945</a>) for binding to the ciliary neurotrophic factor receptor (CNTFR; <a href="/entry/118946">118946</a>) complex (<a href="#7" class="mim-tip-reference" title="Elson, G. C. A., Lelievre, E., Guillet, C., Chevalier, S., Plun-Favreau, H., Froger, J., Suard, I., de Coignac, A. B., Delneste, Y., Bonnefoy, J.-Y., Gauchat, J.-F., Gascan, H. <strong>CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex.</strong> Nature Neurosci. 3: 867-872, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966616</a>] [<a href="https://doi.org/10.1038/78765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966616">Elson et al., 2000</a>). The binding of CRLF1 and CNTF to a common receptor, and their apparent functional similarity, led <a href="#12" class="mim-tip-reference" title="Lesser, S. S., Lo, D. C. <strong>CNTF II, I presume?</strong> Nature Neurosci. 3: 851-852, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966608</a>] [<a href="https://doi.org/10.1038/78738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10966608">Lesser and Lo (2000)</a> to dub CRLF1 'CNTF II.' CNTF exerts a survival-promoting effect on a variety of neuronal cells. However, the use of CNTF as an experimental treatment of patients with motor-neuron disease did not influence the clinical course of the disorder (<a href="#11" class="mim-tip-reference" title="Lambert, P. D., Anderson, K. D., Sleeman, M. W., Wong, V., Tan, J., Hijarunguru, A., Corcoran, T. L., Murray, J. D., Thabet, K. E., Yancopoulos, G. D., Wiegand, S. J. <strong>Ciliary neurotrophic factor activates leptin-like pathways and reduces body fat, without cachexia or rebound weight gain, even in leptin-resistant obesity.</strong> Proc. Nat. Acad. Sci. 98: 4652-4657, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11259650[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.061034298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11259650">Lambert et al., 2001</a>). Furthermore, a null mutation in the CNTF gene occurs as a common variant in the Japanese population and is not associated with a neurologic disorder (<a href="#14" class="mim-tip-reference" title="Takahashi, R., Yokoji, H., Misawa, H., Hayashi, M., Hu, J., Deguchi, T. <strong>A null mutation in the human CNTF gene is not causally related to neurological diseases.</strong> Nature Genet. 7: 79-84, 1994. Note: Erratum: Nature Genet. 7: 215 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8075647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8075647</a>] [<a href="https://doi.org/10.1038/ng0594-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8075647">Takahashi et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8075647+10966608+11259650+10966616" 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>Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>) was first described in 2 Israeli sisters in a consanguineous family who experienced profuse sweating, induced by cool surroundings, on large segments of their back and chest. They had additional abnormalities, including a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend their elbows, and kyphoscoliosis, none of which were found in the parents. <a href="#10" class="mim-tip-reference" title="Knappskog, P. M., Majewski, J., Livneh, A., Nilsen, P. T. E., Bringsli, J. S., Ott, J., Boman, H. <strong>Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</strong> Am. J. Hum. Genet. 72: 375-383, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12509788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509788">Knappskog et al. (2003)</a> observed a similar clinical phenotype in 2 Norwegian brothers with remote common ancestors. By homozygosity mapping, they demonstrated a candidate region on chromosome 19p12. DNA sequencing of 25 genes within the critical region identified potentially deleterious CRLF1 sequence variants that were not found in unaffected control individuals; see <a href="#0001">604237.0001</a>-<a href="#0002">604237.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509788" 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>CNTFR is expressed primarily in the nervous system, but expression is also detected in skeletal muscle. A muscle biopsy performed during back surgery in 1 of the Norwegian brothers reported by <a href="#10" class="mim-tip-reference" title="Knappskog, P. M., Majewski, J., Livneh, A., Nilsen, P. T. E., Bringsli, J. S., Ott, J., Boman, H. <strong>Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</strong> Am. J. Hum. Genet. 72: 375-383, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12509788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509788">Knappskog et al. (2003)</a> showed atrophic skeletal muscle, possibly contributing to his development of severe kyphoscoliosis. The clinical observations in the Norwegian brothers (see <a href="#0001">604237.0001</a>) showed similarities to observations made in experimental animals and in cell cultures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509788" 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 4 children from 3 unrelated families diagnosed with Crisponi syndrome, a rare autosomal recessive disorder characterized by congenital contractions of facial muscles, dysmorphic features, and hyperthermia, <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V. <strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong> Am. J. Hum. Genet. 80: 966-970, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436251">Dagoneau et al. (2007)</a> identified homozygous or compound heterozygous mutations in the CRLF1 gene (<a href="#0003">604237.0003</a>-<a href="#0006">604237.0006</a>). The 4 mutations were located in the immunoglobulin-like and type III fibronectin domains, and 3 of them predicted premature termination of translation. Using real-time quantitative PCR, <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V. <strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong> Am. J. Hum. Genet. 80: 966-970, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436251">Dagoneau et al. (2007)</a> found a significant decrease in CRLF1 mRNA expression in patient fibroblasts, which was suggestive of a mutation-mediated decay of the abnormal transcript. CRLF1 forms a heterodimeric complex with cardiotrophin-like cytokine factor-1 (CLC, or CLCF1; <a href="/entry/607672">607672</a>), which is the site of mutations causing cold-induced sweating syndrome-2 (CISS2; <a href="/entry/610313">610313</a>), and this heterodimer competes with ciliary neurotrophic factor (CNTF; <a href="/entry/118945">118945</a>) for binding to the ciliary neurotrophic factor receptor (CNTFR; <a href="/entry/118946">118946</a>) complex. The identification of CRLF1 mutations in Crisponi syndrome supported the key role of the CNTFR pathway in the function of the autonomic nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436251" 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>Within the critical region identified on chromosome 19p13.1-p12 for Crisponi syndrome, <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> identified the CRLF1 gene as the most prominent candidate and detected 4 different CRLF1 mutations in 8 families, including a missense mutation, a single-nucleotide insertion, a nonsense mutation, and an insertion/deletion (indel) mutation. <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> noted that the CRLF1 gene is involved in the pathogenesis of cold-induced sweating syndrome-1, which belongs to a group of conditions with overlapping phenotypes also including cold-induced sweating syndrome-2 and Stuve-Wiedemann syndrome (<a href="/entry/601559">601559</a>). All of these syndromes are caused by mutations of genes in the ciliary neurotrophic factor receptor pathway. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggested that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> suggested that the syndromes mentioned comprise a family of 'CNTF receptor-related disorders.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436252" 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="#9" class="mim-tip-reference" title="Herholz, J., Meloni, A., Marongiu, M., Chiappe, F., Deiana, M., Herrero, C. R., Zampino, G., Hamamy, H., Zalloum, Y., Waaler, P. E., Crisponi, G., Crisponi, L., Rutsch, F. <strong>Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</strong> Europ. J. Hum. Genet. 19: 525-533, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21326283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326283">Herholz et al. (2011)</a> noted that most older patients with CISS have a history of features consistent with Crisponi syndrome early in life. Based on functional studies of the mutations in the CRLF1 gene causing the 2 disorders, <a href="#9" class="mim-tip-reference" title="Herholz, J., Meloni, A., Marongiu, M., Chiappe, F., Deiana, M., Herrero, C. R., Zampino, G., Hamamy, H., Zalloum, Y., Waaler, P. E., Crisponi, G., Crisponi, L., Rutsch, F. <strong>Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</strong> Europ. J. Hum. Genet. 19: 525-533, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21326283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326283">Herholz et al. (2011)</a> concluded that Crisponi syndrome and CISS1 represent manifestations of the same disorder, with different degrees of severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Herholz, J., Meloni, A., Marongiu, M., Chiappe, F., Deiana, M., Herrero, C. R., Zampino, G., Hamamy, H., Zalloum, Y., Waaler, P. E., Crisponi, G., Crisponi, L., Rutsch, F. <strong>Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</strong> Europ. J. Hum. Genet. 19: 525-533, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21326283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326283">Herholz et al. (2011)</a> performed in vitro functional analysis of 13 different CRLF1 mutations by cotransfecting mutant CRLF1 with wildtype CLCF1 in COS-7 cells. CRLF1 mutants K368X (<a href="#0007">604237.0007</a>), W284C, R81H and L374R (<a href="#0002">604237.0002</a>) were strongly detected in the supernatant of transfected cells, at levels of 40% or more. Mutants W76G (<a href="#0004">604237.0004</a>), 676insA (<a href="#0003">604237.0003</a>), 708delCCinsT (<a href="#0008">604237.0008</a>), and 844delGT (<a href="#0001">604237.0001</a>) were partially secreted (6-28%), and mutants Y75D, 713dupC (<a href="#0006">604237.0006</a>), 538insA, and Q180X were not secreted or detected at all. There was some correlation between phenotypic severity and levels of CRLF1 secretion: absent or weak secretion was associated with a more severe phenotype and strong secretion was associated with a milder phenotype. Time lapse secretion studies indicated that coexpression with CRLF1 is not necessary for CLCF1 secretion, but is required to accelerate the kinetics of secretion into the extracellular medium. CLCF1 alone could induce STAT3 (<a href="/entry/102582">102582</a>) phosphorylation in a cell line, but CRLF1 alone could not. However, the complexes of wildtype CLCF1 and mutant forms of CRLF1 were able to elicit STAT3 signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the developing mouse embryo, CRLF1 is expressed at multiple sites, including skeletal muscle. <a href="#1" class="mim-tip-reference" title="Alexander, W. S., Rakar, S., Robb, L., Farley, A., Willson, T. A., Zhang, J.-G., Hartley, L., Kikuchi, Y., Kojima, T., Nomura, H., Hasegawa, M., Maeda, M., Fabri, L., Jachno, K., Nash, A., Metcalf, D., Nicola, N. A., Hilton, D. J. <strong>Suckling defect in mice lacking the soluble haemopoietin receptor NR6.</strong> Curr. Biol. 9: 605-608, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359701</a>] [<a href="https://doi.org/10.1016/s0960-9822(99)80266-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10359701">Alexander et al. (1999)</a> found that mice lacking the CRLF1 gene were unable to suckle and died of starvation shortly after birth, with their stomachs devoid of milk. No anatomic anomalies of the mouth were detected and the mechanism of the suckling problem was unclear. Newborn mice lacking CNTFR are also unable to feed, and impaired jaw movements have been observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10359701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using chick embryos, <a href="#8" class="mim-tip-reference" title="Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W. <strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong> J. Neurosci. 23: 8854-8858, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14523086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14523086</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.23-26-08854.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14523086">Forger et al. (2003)</a> showed that administration of Clc enhanced motor neuron survival. There was no further enhancement through the addition of Cntf (<a href="/entry/118945">118945</a>) or Ctf1 (<a href="/entry/600435">600435</a>). Clc protected lumbar motor neurons, but not sensory neurons, from programmed cell death in embryonic chicks. Deletion of Clf in mice resulted in reduced motor neurons and neonatal lethality. Both Clf and Clc were expressed in skeletal muscle fibers of embryonic mice. <a href="#8" class="mim-tip-reference" title="Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W. <strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong> J. Neurosci. 23: 8854-8858, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14523086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14523086</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.23-26-08854.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14523086">Forger et al. (2003)</a> proposed that the CLC-CLF heterodimer is required for survival of specific pools of motor neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14523086" 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">rs137853928 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853928;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=rs137853928" 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=rs137853928" 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=RCV000210224" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210224" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210224</a>
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<p>In 2 Norwegian brothers with Crisponi/cold-induced sweating syndrome-1 (CISS1; <a href="/entry/272430">272430</a>), <a href="#10" class="mim-tip-reference" title="Knappskog, P. M., Majewski, J., Livneh, A., Nilsen, P. T. E., Bringsli, J. S., Ott, J., Boman, H. <strong>Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</strong> Am. J. Hum. Genet. 72: 375-383, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12509788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509788">Knappskog et al. (2003)</a> identified homozygosity for a 2-bp deletion (844_845GT) in exon 5 of the CRLF1 gene, which was predicted to result in a frameshift encoding a nonfunctional gene product. The disorder in the Norwegian brothers was more severe than that in the Israeli sisters (see <a href="#0002">604237.0002</a>), with earlier age of onset, feeding difficulties, serious kyphoscoliosis, and reduced pain and temperature sensitivity. The older brother would not suckle in the neonatal period, leading to dehydration. He was fed first by a nasogastric tube and subsequently by a special sucking device intended for newborn lambs. These feeding problems, complicated by bronchopulmonary and urinary tract infections, led to hospitalization for his first 3 months of life. His younger brother was admitted at 1 day of age, primarily because of respiratory problems. He too did not suckle spontaneously and had to be fed in the same manner as his older brother. Both had difficulty fully opening their mouths. While playing in the snow, the older brother repeatedly experienced frostbite in his hands. Furthermore, he could hold his palms in a flame or put his hands in boiling water without any sensory pain. Both brothers had severe progressive kyphoscoliosis requiring extensive surgery, following which the boys had an unusually low requirement for pain-relieving medication. Both brothers had short hands with pronounced clinodactyly and tapering of fingers. They could not fully extend their elbows. Their sweating problem was noted at the age of approximately 7 years. The patchwise distribution in affected areas closely resembled those described in the Israeli sisters. These areas did not sweat at warm temperatures, during fever episodes, or during exercise. The mother sometimes had to cool her overheated children by putting their feet in cold water. Subtropical environment did not bother these patients. They could stay in bright sunlight without feeling the heat and had no desire to take their clothes off for cooling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509788" 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">rs104894668 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894668;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=rs104894668" 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=rs104894668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs104894670 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894670;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/rs104894670?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=rs104894670" 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=rs104894670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Israeli sisters with Crisponi/cold-induced sweating syndrome-1 (CISS1; <a href="/entry/272430">272430</a>) in whom the cold-induced sweating feature was first delineated, <a href="#10" class="mim-tip-reference" title="Knappskog, P. M., Majewski, J., Livneh, A., Nilsen, P. T. E., Bringsli, J. S., Ott, J., Boman, H. <strong>Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</strong> Am. J. Hum. Genet. 72: 375-383, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12509788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/346120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509788">Knappskog et al. (2003)</a> found homozygosity for 2 mutations in the CRLF1 gene: an A-to-G transition in the second position of codon 81, predicting a change from arginine to histidine (R81H); and a T-to-G transversion in the second position of codon 374, predicting a change from leucine to arginine (L374R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509788" 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> rs761746361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761746361;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/rs761746361?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=rs761746361" 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=rs761746361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Sardinian family with Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>), <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V. <strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong> Am. J. Hum. Genet. 80: 966-970, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436251">Dagoneau et al. (2007)</a> found compound heterozygosity for 2 mutations in the CRLF1 gene: duplication of an adenine nucleotide at position 676 in exon 4 (676dupA), and a missense mutation in exon 2 (W76G; <a href="#0004">604237.0004</a>). As noted by <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a>, who also studied this family and detected these mutations, this was one of the original families described by <a href="#2" class="mim-tip-reference" title="Crisponi, G. <strong>Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?</strong> Am. J. Med. Genet. 62: 365-371, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723066</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723066">Crisponi (1996)</a>. <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> referred to the mutation in exon 4 as 676_677insA. The mutation results in a threonine-to-asparagine substitution at codon 226 followed by frameshift, which leads to the deletion of a complete fibronectin domain as well as the C-terminal domain (Thr226AsnfsTer104). <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> also found the 676_677insA mutation in compound heterozygosity with the W76G mutation in another family (also studied by <a href="#2" class="mim-tip-reference" title="Crisponi, G. <strong>Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?</strong> Am. J. Med. Genet. 62: 365-371, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723066</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723066">Crisponi (1996)</a>), and in homozygosity in 2 further families. All of these families were Sardinian, suggesting a potential founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17436251+17436252+8723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The Sardinian patient with Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>) studied by <a href="#4" class="mim-tip-reference" title="Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V. <strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong> Am. J. Hum. Genet. 80: 966-970, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436251">Dagoneau et al. (2007)</a> was compound heterozygous for 2 mutations in the CRLF1 gene: a substitution of glycine for tryptophan at codon 76 (W76G), caused by a 226T-G transversion in exon 2, and a 1-bp insertion (<a href="#0003">604237.0003</a>). This patient was also studied by <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> and <a href="#2" class="mim-tip-reference" title="Crisponi, G. <strong>Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?</strong> Am. J. Med. Genet. 62: 365-371, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723066</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723066">Crisponi (1996)</a>. <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> noted that this substitution occurs in the immunoglobulin-like domain of the protein and was predicted to result in loss of tight internal side-chain arrangement and consequent decrease of stability. Trp76 is strictly conserved within CRLF1 homologous proteins from zebrafish to human. <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> found this mutation in compound heterozygosity with the 1-bp insertion in a second Sardinian family (also described by <a href="#2" class="mim-tip-reference" title="Crisponi, G. <strong>Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?</strong> Am. J. Med. Genet. 62: 365-371, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723066</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723066">Crisponi (1996)</a>) and in homozygosity in an additional Sardinian proband who displayed a severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17436251+17436252+8723066" 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>.0005 CRISPONI/COLD-INDUCED SWEATING 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"><span class="text-primary">●</span> rs748847434 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs748847434;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/rs748847434?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=rs748847434" 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=rs748847434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#4" class="mim-tip-reference" title="Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V. <strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong> Am. J. Hum. Genet. 80: 966-970, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436251">Dagoneau et al. (2007)</a> found a 527+5G-A mutation in homozygosity in a Yemenite patient with Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>) who was the daughter of first-cousin parents. She was first given a diagnosis of Schwartz-Jampel syndrome type 2 (<a href="/entry/601559">601559</a>) since she presented with suggestive dysmorphic features, pursed appearance of the mouth during crying, bilateral camptodactyly, poor sucking, and swallowing difficulties, but she had no bowing of the lower limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436251" 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> rs768727082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs768727082;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/rs768727082?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=rs768727082" 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=rs768727082" 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=RCV000195773 OR RCV002515469 OR RCV004020477 OR RCV004758669" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000195773, RCV002515469, RCV004020477, RCV004758669" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000195773...</a>
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<p><a href="#4" class="mim-tip-reference" title="Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V. <strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong> Am. J. Hum. Genet. 80: 966-970, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/513608" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436251">Dagoneau et al. (2007)</a> described a 1-bp duplication in exon 5 of the CRLF1 gene, 713dupC, in homozygous state in 2 first cousins in a consanguineous Gypsy family as the basis of Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Turkish child with Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>), <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> found an A-to-T transversion at nucleotide 1102 in exon 7 of the CRLF1 gene that resulted in substitution of a termination codon for lys368 (K368X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 children from 2 consanguineous Turkish families, <a href="#3" class="mim-tip-reference" title="Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others. <strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong> Am. J. Hum. Genet. 80: 971-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/516843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436252">Crisponi et al. (2007)</a> found that Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>) was caused by homozygosity for an indel mutation in exon 5 of the CRLF1 gene: 708_709delCCinsT. The mutation leads to a frameshift in the second fibronectin type II domain (Pro238ArgfsTer6). The fathers of the affected probands from these 2 families originated from the same town in eastern Turkey. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436252" 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 CRISPONI/COLD-INDUCED SWEATING SYNDROME 1</strong>
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CRLF1, ARG277TER
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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> rs137853145 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853145;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/rs137853145?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=rs137853145" 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=rs137853145" 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=RCV000006067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006067</a>
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<p>In a Turkish patient with Crisponi/cold-induced sweating syndrome (CISS1; <a href="/entry/272430">272430</a>) who had the additional features of velopharyngeal insufficiency, incomplete cleft palate, and thin corpus callosum, <a href="#13" class="mim-tip-reference" title="Okur, I., Tumer, L., Crisponi, L., Eminoglu, F. T., Chiappe, F., Cinaz, P., Yenicesu, I., Hasanoglu, A. <strong>Crisponi syndrome: a new case with additional features and new mutation in CRLF1.</strong> Am. J. Med. Genet. 146A: 3237-3239, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19012339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19012339</a>] [<a href="https://doi.org/10.1002/ajmg.a.32531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19012339">Okur et al. (2008)</a> identified a homozygous 829C-T transition in the CRLF1 gene, resulting in an arg277-to-ter (R277X) substitution. The parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19012339" 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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<strong>Suckling defect in mice lacking the soluble haemopoietin receptor NR6.</strong>
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[<a href="https://doi.org/10.1016/s0960-9822(99)80266-8" target="_blank">Full Text</a>]
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Crisponi, G.
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<strong>Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723066" 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/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q" target="_blank">Full Text</a>]
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Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others.
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<strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong>
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Am. J. Hum. Genet. 80: 971-981, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436252[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=17436252" 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/10.1086/516843" target="_blank">Full Text</a>]
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<a id="Dagoneau2007" class="mim-anchor"></a>
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Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V.
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<strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong>
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Am. J. Hum. Genet. 80: 966-970, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436251[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=17436251" 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/10.1086/513608" target="_blank">Full Text</a>]
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Elson, G. C. A., de Coignac, A. B., Aubrey, J.-P., Delneste, Y., Magistrelli, G., Holzwarth, J., Bonnefoy, J.-Y., Gauchat, J.-F.
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[<a href="https://doi.org/10.1006/bbrc.1999.1481" target="_blank">Full Text</a>]
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Elson, G. C. A., Graber, P., Losberger, C., Herren, S., Gretener, D., Menoud, L. N., Wells, T. N. C., Kosco-Vilbois, M. H., Gauchat, J.-F.
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<a id="Elson2000" class="mim-anchor"></a>
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Elson, G. C. A., Lelievre, E., Guillet, C., Chevalier, S., Plun-Favreau, H., Froger, J., Suard, I., de Coignac, A. B., Delneste, Y., Bonnefoy, J.-Y., Gauchat, J.-F., Gascan, H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10966616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/78765" target="_blank">Full Text</a>]
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Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14523086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14523086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14523086" 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/10.1523/JNEUROSCI.23-26-08854.2003" target="_blank">Full Text</a>]
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<a id="Herholz2011" class="mim-anchor"></a>
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Herholz, J., Meloni, A., Marongiu, M., Chiappe, F., Deiana, M., Herrero, C. R., Zampino, G., Hamamy, H., Zalloum, Y., Waaler, P. E., Crisponi, G., Crisponi, L., Rutsch, F.
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<strong>Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</strong>
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Europ. J. Hum. Genet. 19: 525-533, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21326283[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=21326283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2010.253" target="_blank">Full Text</a>]
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Knappskog, P. M., Majewski, J., Livneh, A., Nilsen, P. T. E., Bringsli, J. S., Ott, J., Boman, H.
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<strong>Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</strong>
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Am. J. Hum. Genet. 72: 375-383, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12509788[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=12509788" 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/10.1086/346120" target="_blank">Full Text</a>]
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Lambert, P. D., Anderson, K. D., Sleeman, M. W., Wong, V., Tan, J., Hijarunguru, A., Corcoran, T. L., Murray, J. D., Thabet, K. E., Yancopoulos, G. D., Wiegand, S. J.
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<strong>Ciliary neurotrophic factor activates leptin-like pathways and reduces body fat, without cachexia or rebound weight gain, even in leptin-resistant obesity.</strong>
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Proc. Nat. Acad. Sci. 98: 4652-4657, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11259650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11259650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11259650[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=11259650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.061034298" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Lesser2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lesser, S. S., Lo, D. C.
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<strong>CNTF II, I presume?</strong>
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Nature Neurosci. 3: 851-852, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10966608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10966608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10966608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/78738" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Okur2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Okur, I., Tumer, L., Crisponi, L., Eminoglu, F. T., Chiappe, F., Cinaz, P., Yenicesu, I., Hasanoglu, A.
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<strong>Crisponi syndrome: a new case with additional features and new mutation in CRLF1.</strong>
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Am. J. Med. Genet. 146A: 3237-3239, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19012339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19012339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19012339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32531" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Takahashi1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takahashi, R., Yokoji, H., Misawa, H., Hayashi, M., Hu, J., Deguchi, T.
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<strong>A null mutation in the human CNTF gene is not causally related to neurological diseases.</strong>
|
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Nature Genet. 7: 79-84, 1994. Note: Erratum: Nature Genet. 7: 215 only, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8075647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8075647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8075647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0594-79" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div 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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Paul J. Converse - updated : 10/12/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 08/25/2016<br>Cassandra L. Kniffin - updated : 1/9/2013<br>Nara Sobreira - updated : 9/4/2009<br>Victor A. McKusick - updated : 4/19/2007<br>Marla J. F. O'Neill - updated : 8/14/2006<br>Victor A. McKusick - updated : 1/29/2003<br>Victor A. McKusick - updated : 10/19/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/15/1999
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/01/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 10/12/2017<br>carol : 04/18/2017<br>alopez : 08/25/2016<br>carol : 01/24/2013<br>ckniffin : 1/9/2013<br>terry : 8/17/2012<br>carol : 9/9/2009<br>terry : 9/4/2009<br>alopez : 4/26/2007<br>terry : 4/19/2007<br>wwang : 8/14/2006<br>terry : 8/14/2006<br>tkritzer : 5/7/2003<br>carol : 4/17/2003<br>carol : 3/20/2003<br>terry : 3/13/2003<br>carol : 2/12/2003<br>tkritzer : 1/30/2003<br>terry : 1/29/2003<br>mgross : 4/27/2001<br>mgross : 4/4/2001<br>mgross : 10/19/1999<br>carol : 10/18/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604237
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1
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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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<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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CLF1<br />
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NR6
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CRLF1</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 19p13.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:18,593,237-18,606,799 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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19p13.11
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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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Cold-induced sweating 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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272430
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The CRLF1 gene encodes cytokine receptor-like factor-1, a soluble protein that is a member of the ciliary neurotrophic factor receptor pathway. CRLF1 forms a complex with CLCF1 (607672), and this complex binds to the ciliary neurotrophic factor receptor (CNTFR; 118946) to induce downstream signaling events (Elson et al., 2000; summary by Herholz et al., 2011). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Elson et al. (1998) described the identification, cloning, and expression pattern of human cytokine-like factor-1, which they designated CLF1, as well as the identification and cloning of the mouse homolog. They were identified from expressed sequence tags using amino acid sequences from conserved regions of the cytokine type I receptor family. The human and mouse CRLF1 proteins share 96% amino acid identity and significant homology with many cytokine type I receptors. The human cDNA encodes a precursor protein of 422 amino acids with a putative signal peptide of 37 amino acids. CRLF1 is a secreted protein, suggesting that it is either a soluble subunit within a cytokine receptor complex, like the soluble form of IL6R (147880), or a subunit of a multimeric cytokine, e.g., IL12B (161561). The highest levels of CRLF1 mRNA were observed in lymph node, spleen, thymus, appendix, placenta, stomach, and fetal lung, with constitutive expression of CRLF1 mRNA detected in a human kidney fibroblast cell line. </p><p>Using an oligonucleotide encoding the conserved WSXWS (single-letter amino acid code) motif present in the extracellular domains of hemopoietin receptors, Alexander et al. (1999) isolated a Crlf1 cDNA, which they called Nr6, from mouse testis, brain, and KUSA cell line cDNA libraries. Most of the clones contained a long open reading frame (Nr6.1) of 1,275 nucleotides. The predicted protein sequence is consistent with that of a hemopoietin receptor: a potential signal sequence and immunoglobulin-like domain precedes a hemopoietin domain containing the expected cysteine pairs and a WSEWS motif, and a sequence with loose homology to part of the fibronectin type III repeat is evident at the C terminus. Independent clones were also isolated with deduced open reading frames (Nr6.2 and Nr6.3) that contain divergent sequences C-terminal to the hemopoietin domain. Human NR6 cDNAs, all of which were homologs of murine Nr6.1, were isolated using low-stringency hybridization of murine probes to fetal kidney, fetal liver, and placenta libraries. No hydrophobic sequences typical of a transmembrane domain and no motifs usually required for membrane association via lipid attachment were evident, indicating that NR6 is a soluble member of the hemopoietin receptor family. The primary amino acid sequences of human and mouse NR6.1 are 98% identical. Although NR6 was found to have sequence similarity to membrane-bound hemopoietin receptors, structurally it appeared to be analogous to the 2 other exclusively soluble members of the hemopoietin receptor family, the p40 component of IL12 (IL12B) and EBI3 (605816), a 34-kD glycoprotein secreted by B lymphocytes in response to Epstein-Barr virus. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Elson et al. (1999) determined that the CRLF1 gene has 9 exons. </p>
|
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Elson et al. (1998) found the CRLF1 sequence (GenBank AC003112) within a 14-kb region of a chromosome 19-specific cosmid mapping to 19p12. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>In fibroblast primary cell cultures, Elson et al. (1998) found that CRLF1 mRNA was upregulated by TNF-alpha (191160), interleukin-6 (147620), and gamma-interferon (147570). Western blot analysis of recombinant forms of CRLF1 showed that the protein has the tendency to form covalently linked dimers and tetramers. These results suggested that CRLF1 is a novel soluble cytokine receptor subunit or part of a novel cytokine complex, possibly playing a regulatory role in the immune system and during fetal development. </p><p>CRLF1 competes with ciliary neurotrophic factor (CNTF; 118945) for binding to the ciliary neurotrophic factor receptor (CNTFR; 118946) complex (Elson et al., 2000). The binding of CRLF1 and CNTF to a common receptor, and their apparent functional similarity, led Lesser and Lo (2000) to dub CRLF1 'CNTF II.' CNTF exerts a survival-promoting effect on a variety of neuronal cells. However, the use of CNTF as an experimental treatment of patients with motor-neuron disease did not influence the clinical course of the disorder (Lambert et al., 2001). Furthermore, a null mutation in the CNTF gene occurs as a common variant in the Japanese population and is not associated with a neurologic disorder (Takahashi et al., 1994). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Crisponi/cold-induced sweating syndrome (CISS1; 272430) was first described in 2 Israeli sisters in a consanguineous family who experienced profuse sweating, induced by cool surroundings, on large segments of their back and chest. They had additional abnormalities, including a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend their elbows, and kyphoscoliosis, none of which were found in the parents. Knappskog et al. (2003) observed a similar clinical phenotype in 2 Norwegian brothers with remote common ancestors. By homozygosity mapping, they demonstrated a candidate region on chromosome 19p12. DNA sequencing of 25 genes within the critical region identified potentially deleterious CRLF1 sequence variants that were not found in unaffected control individuals; see 604237.0001-604237.0002. </p><p>CNTFR is expressed primarily in the nervous system, but expression is also detected in skeletal muscle. A muscle biopsy performed during back surgery in 1 of the Norwegian brothers reported by Knappskog et al. (2003) showed atrophic skeletal muscle, possibly contributing to his development of severe kyphoscoliosis. The clinical observations in the Norwegian brothers (see 604237.0001) showed similarities to observations made in experimental animals and in cell cultures. </p><p>In 4 children from 3 unrelated families diagnosed with Crisponi syndrome, a rare autosomal recessive disorder characterized by congenital contractions of facial muscles, dysmorphic features, and hyperthermia, Dagoneau et al. (2007) identified homozygous or compound heterozygous mutations in the CRLF1 gene (604237.0003-604237.0006). The 4 mutations were located in the immunoglobulin-like and type III fibronectin domains, and 3 of them predicted premature termination of translation. Using real-time quantitative PCR, Dagoneau et al. (2007) found a significant decrease in CRLF1 mRNA expression in patient fibroblasts, which was suggestive of a mutation-mediated decay of the abnormal transcript. CRLF1 forms a heterodimeric complex with cardiotrophin-like cytokine factor-1 (CLC, or CLCF1; 607672), which is the site of mutations causing cold-induced sweating syndrome-2 (CISS2; 610313), and this heterodimer competes with ciliary neurotrophic factor (CNTF; 118945) for binding to the ciliary neurotrophic factor receptor (CNTFR; 118946) complex. The identification of CRLF1 mutations in Crisponi syndrome supported the key role of the CNTFR pathway in the function of the autonomic nervous system. </p><p>Within the critical region identified on chromosome 19p13.1-p12 for Crisponi syndrome, Crisponi et al. (2007) identified the CRLF1 gene as the most prominent candidate and detected 4 different CRLF1 mutations in 8 families, including a missense mutation, a single-nucleotide insertion, a nonsense mutation, and an insertion/deletion (indel) mutation. Crisponi et al. (2007) noted that the CRLF1 gene is involved in the pathogenesis of cold-induced sweating syndrome-1, which belongs to a group of conditions with overlapping phenotypes also including cold-induced sweating syndrome-2 and Stuve-Wiedemann syndrome (601559). All of these syndromes are caused by mutations of genes in the ciliary neurotrophic factor receptor pathway. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggested that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. Crisponi et al. (2007) suggested that the syndromes mentioned comprise a family of 'CNTF receptor-related disorders.' </p><p>Herholz et al. (2011) noted that most older patients with CISS have a history of features consistent with Crisponi syndrome early in life. Based on functional studies of the mutations in the CRLF1 gene causing the 2 disorders, Herholz et al. (2011) concluded that Crisponi syndrome and CISS1 represent manifestations of the same disorder, with different degrees of severity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Herholz et al. (2011) performed in vitro functional analysis of 13 different CRLF1 mutations by cotransfecting mutant CRLF1 with wildtype CLCF1 in COS-7 cells. CRLF1 mutants K368X (604237.0007), W284C, R81H and L374R (604237.0002) were strongly detected in the supernatant of transfected cells, at levels of 40% or more. Mutants W76G (604237.0004), 676insA (604237.0003), 708delCCinsT (604237.0008), and 844delGT (604237.0001) were partially secreted (6-28%), and mutants Y75D, 713dupC (604237.0006), 538insA, and Q180X were not secreted or detected at all. There was some correlation between phenotypic severity and levels of CRLF1 secretion: absent or weak secretion was associated with a more severe phenotype and strong secretion was associated with a milder phenotype. Time lapse secretion studies indicated that coexpression with CRLF1 is not necessary for CLCF1 secretion, but is required to accelerate the kinetics of secretion into the extracellular medium. CLCF1 alone could induce STAT3 (102582) phosphorylation in a cell line, but CRLF1 alone could not. However, the complexes of wildtype CLCF1 and mutant forms of CRLF1 were able to elicit STAT3 signaling. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the developing mouse embryo, CRLF1 is expressed at multiple sites, including skeletal muscle. Alexander et al. (1999) found that mice lacking the CRLF1 gene were unable to suckle and died of starvation shortly after birth, with their stomachs devoid of milk. No anatomic anomalies of the mouth were detected and the mechanism of the suckling problem was unclear. Newborn mice lacking CNTFR are also unable to feed, and impaired jaw movements have been observed. </p><p>Using chick embryos, Forger et al. (2003) showed that administration of Clc enhanced motor neuron survival. There was no further enhancement through the addition of Cntf (118945) or Ctf1 (600435). Clc protected lumbar motor neurons, but not sensory neurons, from programmed cell death in embryonic chicks. Deletion of Clf in mice resulted in reduced motor neurons and neonatal lethality. Both Clf and Clc were expressed in skeletal muscle fibers of embryonic mice. Forger et al. (2003) proposed that the CLC-CLF heterodimer is required for survival of specific pools of motor neurons. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, 2-BP DEL, 844GT
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<br />
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SNP: rs137853928,
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ClinVar: RCV000210224
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Norwegian brothers with Crisponi/cold-induced sweating syndrome-1 (CISS1; 272430), Knappskog et al. (2003) identified homozygosity for a 2-bp deletion (844_845GT) in exon 5 of the CRLF1 gene, which was predicted to result in a frameshift encoding a nonfunctional gene product. The disorder in the Norwegian brothers was more severe than that in the Israeli sisters (see 604237.0002), with earlier age of onset, feeding difficulties, serious kyphoscoliosis, and reduced pain and temperature sensitivity. The older brother would not suckle in the neonatal period, leading to dehydration. He was fed first by a nasogastric tube and subsequently by a special sucking device intended for newborn lambs. These feeding problems, complicated by bronchopulmonary and urinary tract infections, led to hospitalization for his first 3 months of life. His younger brother was admitted at 1 day of age, primarily because of respiratory problems. He too did not suckle spontaneously and had to be fed in the same manner as his older brother. Both had difficulty fully opening their mouths. While playing in the snow, the older brother repeatedly experienced frostbite in his hands. Furthermore, he could hold his palms in a flame or put his hands in boiling water without any sensory pain. Both brothers had severe progressive kyphoscoliosis requiring extensive surgery, following which the boys had an unusually low requirement for pain-relieving medication. Both brothers had short hands with pronounced clinodactyly and tapering of fingers. They could not fully extend their elbows. Their sweating problem was noted at the age of approximately 7 years. The patchwise distribution in affected areas closely resembled those described in the Israeli sisters. These areas did not sweat at warm temperatures, during fever episodes, or during exercise. The mother sometimes had to cool her overheated children by putting their feet in cold water. Subtropical environment did not bother these patients. They could stay in bright sunlight without feeling the heat and had no desire to take their clothes off for cooling. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, ARG81HIS AND LEU374ARG
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<br />
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SNP: rs104894668, rs104894670,
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gnomAD: rs104894670,
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ClinVar: RCV000006060, RCV000020613, RCV000020614, RCV001731325
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Israeli sisters with Crisponi/cold-induced sweating syndrome-1 (CISS1; 272430) in whom the cold-induced sweating feature was first delineated, Knappskog et al. (2003) found homozygosity for 2 mutations in the CRLF1 gene: an A-to-G transition in the second position of codon 81, predicting a change from arginine to histidine (R81H); and a T-to-G transversion in the second position of codon 374, predicting a change from leucine to arginine (L374R). </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 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, 1-BP INS, 676A
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<br />
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SNP: rs761746361,
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gnomAD: rs761746361,
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ClinVar: RCV000006061
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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 Sardinian family with Crisponi/cold-induced sweating syndrome (CISS1; 272430), Dagoneau et al. (2007) found compound heterozygosity for 2 mutations in the CRLF1 gene: duplication of an adenine nucleotide at position 676 in exon 4 (676dupA), and a missense mutation in exon 2 (W76G; 604237.0004). As noted by Crisponi et al. (2007), who also studied this family and detected these mutations, this was one of the original families described by Crisponi (1996). Crisponi et al. (2007) referred to the mutation in exon 4 as 676_677insA. The mutation results in a threonine-to-asparagine substitution at codon 226 followed by frameshift, which leads to the deletion of a complete fibronectin domain as well as the C-terminal domain (Thr226AsnfsTer104). Crisponi et al. (2007) also found the 676_677insA mutation in compound heterozygosity with the W76G mutation in another family (also studied by Crisponi (1996)), and in homozygosity in 2 further families. All of these families were Sardinian, suggesting a potential founder effect. </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 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, TRP76GLY
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<br />
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SNP: rs137853143,
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gnomAD: rs137853143,
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ClinVar: RCV000006062
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>The Sardinian patient with Crisponi/cold-induced sweating syndrome (CISS1; 272430) studied by Dagoneau et al. (2007) was compound heterozygous for 2 mutations in the CRLF1 gene: a substitution of glycine for tryptophan at codon 76 (W76G), caused by a 226T-G transversion in exon 2, and a 1-bp insertion (604237.0003). This patient was also studied by Crisponi et al. (2007) and Crisponi (1996). Crisponi et al. (2007) noted that this substitution occurs in the immunoglobulin-like domain of the protein and was predicted to result in loss of tight internal side-chain arrangement and consequent decrease of stability. Trp76 is strictly conserved within CRLF1 homologous proteins from zebrafish to human. Crisponi et al. (2007) found this mutation in compound heterozygosity with the 1-bp insertion in a second Sardinian family (also described by Crisponi (1996)) and in homozygosity in an additional Sardinian proband who displayed a severe phenotype. </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>.0005 CRISPONI/COLD-INDUCED SWEATING 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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|
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CRLF1, 527+5G-A
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<br />
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|
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SNP: rs748847434,
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gnomAD: rs748847434,
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ClinVar: RCV000006063
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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>Dagoneau et al. (2007) found a 527+5G-A mutation in homozygosity in a Yemenite patient with Crisponi/cold-induced sweating syndrome (CISS1; 272430) who was the daughter of first-cousin parents. She was first given a diagnosis of Schwartz-Jampel syndrome type 2 (601559) since she presented with suggestive dysmorphic features, pursed appearance of the mouth during crying, bilateral camptodactyly, poor sucking, and swallowing difficulties, but she had no bowing of the lower limbs. </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>.0006 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, 1-BP DUP, 713C
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<br />
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|
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SNP: rs768727082,
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gnomAD: rs768727082,
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ClinVar: RCV000195773, RCV002515469, RCV004020477, RCV004758669
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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>Dagoneau et al. (2007) described a 1-bp duplication in exon 5 of the CRLF1 gene, 713dupC, in homozygous state in 2 first cousins in a consanguineous Gypsy family as the basis of Crisponi/cold-induced sweating syndrome (CISS1; 272430). </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 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, LYS368TER
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<br />
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SNP: rs137853144,
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ClinVar: RCV000006065
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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 Turkish child with Crisponi/cold-induced sweating syndrome (CISS1; 272430), Crisponi et al. (2007) found an A-to-T transversion at nucleotide 1102 in exon 7 of the CRLF1 gene that resulted in substitution of a termination codon for lys368 (K368X). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0008 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, 2-BP DEL/1-BP INS, NT708
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<br />
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SNP: rs2145329741,
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ClinVar: RCV000006066
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In 3 children from 2 consanguineous Turkish families, Crisponi et al. (2007) found that Crisponi/cold-induced sweating syndrome (CISS1; 272430) was caused by homozygosity for an indel mutation in exon 5 of the CRLF1 gene: 708_709delCCinsT. The mutation leads to a frameshift in the second fibronectin type II domain (Pro238ArgfsTer6). The fathers of the affected probands from these 2 families originated from the same town in eastern Turkey. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0009 CRISPONI/COLD-INDUCED SWEATING 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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CRLF1, ARG277TER
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<br />
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SNP: rs137853145,
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gnomAD: rs137853145,
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ClinVar: RCV000006067
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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 Turkish patient with Crisponi/cold-induced sweating syndrome (CISS1; 272430) who had the additional features of velopharyngeal insufficiency, incomplete cleft palate, and thin corpus callosum, Okur et al. (2008) identified a homozygous 829C-T transition in the CRLF1 gene, resulting in an arg277-to-ter (R277X) substitution. The parents were heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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Alexander, W. S., Rakar, S., Robb, L., Farley, A., Willson, T. A., Zhang, J.-G., Hartley, L., Kikuchi, Y., Kojima, T., Nomura, H., Hasegawa, M., Maeda, M., Fabri, L., Jachno, K., Nash, A., Metcalf, D., Nicola, N. A., Hilton, D. J.
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<strong>Suckling defect in mice lacking the soluble haemopoietin receptor NR6.</strong>
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[PubMed: 10359701]
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[Full Text: https://doi.org/10.1016/s0960-9822(99)80266-8]
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</p>
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<li>
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<p class="mim-text-font">
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Crisponi, G.
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<strong>Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?</strong>
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Am. J. Med. Genet. 62: 365-371, 1996.
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[PubMed: 8723066]
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[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q]
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Crisponi, L., Crisponi, G., Meloni, A., Toliat, M. R., Nurnberg, G., Usala, G., Uda, M., Masala, M., Hohne, W., Becker, C., Marongiu, M., Chiappe, F., and 10 others.
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<strong>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.</strong>
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Am. J. Hum. Genet. 80: 971-981, 2007.
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[PubMed: 17436252]
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[Full Text: https://doi.org/10.1086/516843]
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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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Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V.
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<strong>Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.</strong>
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Am. J. Hum. Genet. 80: 966-970, 2007.
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[PubMed: 17436251]
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[Full Text: https://doi.org/10.1086/513608]
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</p>
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</li>
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<p class="mim-text-font">
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Elson, G. C. A., de Coignac, A. B., Aubrey, J.-P., Delneste, Y., Magistrelli, G., Holzwarth, J., Bonnefoy, J.-Y., Gauchat, J.-F.
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<strong>BSMAP, a novel protein expressed specifically in the brain whose gene is localized on chromosome 19p12.</strong>
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Biochem. Biophys. Res. Commun. 264: 55-62, 1999.
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[PubMed: 10527841]
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[Full Text: https://doi.org/10.1006/bbrc.1999.1481]
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</p>
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<li>
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<p class="mim-text-font">
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Elson, G. C. A., Graber, P., Losberger, C., Herren, S., Gretener, D., Menoud, L. N., Wells, T. N. C., Kosco-Vilbois, M. H., Gauchat, J.-F.
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<strong>Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family.</strong>
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J. Immun. 161: 1371-1379, 1998.
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[PubMed: 9686600]
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<li>
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<p class="mim-text-font">
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Elson, G. C. A., Lelievre, E., Guillet, C., Chevalier, S., Plun-Favreau, H., Froger, J., Suard, I., de Coignac, A. B., Delneste, Y., Bonnefoy, J.-Y., Gauchat, J.-F., Gascan, H.
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<strong>CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex.</strong>
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Nature Neurosci. 3: 867-872, 2000.
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[PubMed: 10966616]
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[Full Text: https://doi.org/10.1038/78765]
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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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Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W.
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<strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong>
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J. Neurosci. 23: 8854-8858, 2003.
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[PubMed: 14523086]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.23-26-08854.2003]
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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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Herholz, J., Meloni, A., Marongiu, M., Chiappe, F., Deiana, M., Herrero, C. R., Zampino, G., Hamamy, H., Zalloum, Y., Waaler, P. E., Crisponi, G., Crisponi, L., Rutsch, F.
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<strong>Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.</strong>
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Europ. J. Hum. Genet. 19: 525-533, 2011.
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[PubMed: 21326283]
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[Full Text: https://doi.org/10.1038/ejhg.2010.253]
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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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Knappskog, P. M., Majewski, J., Livneh, A., Nilsen, P. T. E., Bringsli, J. S., Ott, J., Boman, H.
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<strong>Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.</strong>
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Am. J. Hum. Genet. 72: 375-383, 2003.
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[PubMed: 12509788]
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[Full Text: https://doi.org/10.1086/346120]
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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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Lambert, P. D., Anderson, K. D., Sleeman, M. W., Wong, V., Tan, J., Hijarunguru, A., Corcoran, T. L., Murray, J. D., Thabet, K. E., Yancopoulos, G. D., Wiegand, S. J.
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<strong>Ciliary neurotrophic factor activates leptin-like pathways and reduces body fat, without cachexia or rebound weight gain, even in leptin-resistant obesity.</strong>
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Proc. Nat. Acad. Sci. 98: 4652-4657, 2001.
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[PubMed: 11259650]
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[Full Text: https://doi.org/10.1073/pnas.061034298]
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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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Lesser, S. S., Lo, D. C.
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<strong>CNTF II, I presume?</strong>
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Nature Neurosci. 3: 851-852, 2000.
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[PubMed: 10966608]
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[Full Text: https://doi.org/10.1038/78738]
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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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Okur, I., Tumer, L., Crisponi, L., Eminoglu, F. T., Chiappe, F., Cinaz, P., Yenicesu, I., Hasanoglu, A.
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<strong>Crisponi syndrome: a new case with additional features and new mutation in CRLF1.</strong>
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Am. J. Med. Genet. 146A: 3237-3239, 2008.
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[PubMed: 19012339]
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[Full Text: https://doi.org/10.1002/ajmg.a.32531]
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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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Takahashi, R., Yokoji, H., Misawa, H., Hayashi, M., Hu, J., Deguchi, T.
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<strong>A null mutation in the human CNTF gene is not causally related to neurological diseases.</strong>
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Nature Genet. 7: 79-84, 1994. Note: Erratum: Nature Genet. 7: 215 only, 1994.
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[PubMed: 8075647]
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[Full Text: https://doi.org/10.1038/ng0594-79]
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Paul J. Converse - updated : 10/12/2017<br>Patricia A. Hartz - updated : 08/25/2016<br>Cassandra L. Kniffin - updated : 1/9/2013<br>Nara Sobreira - updated : 9/4/2009<br>Victor A. McKusick - updated : 4/19/2007<br>Marla J. F. O'Neill - updated : 8/14/2006<br>Victor A. McKusick - updated : 1/29/2003<br>Victor A. McKusick - updated : 10/19/1999
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