3242 lines
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Entry
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- *607465 - CODANIN 1; CDAN1
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- OMIM
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<p>
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<span class="h4">*607465</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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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607465">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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<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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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000140326;t=ENST00000356231" 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=146059" 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=607465" 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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<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=ENSG00000140326;t=ENST00000356231" 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_138477,XM_005254176,XM_011521270,XM_011521271,XM_011521274,XM_047432193,XM_047432194,XM_047432195,XR_931757" 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_138477" 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=607465" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08470&isoform_id=08470_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/CDAN1" 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/14249907,14249909,27451598,30851637,33875980,45219717,57222570,119612982,119612983,119612984,119612985,296439465,530405419,767983404,767983406,767983413,2217300239,2217300241,2217300243,2462542912,2462542914,2462542916,2462542918,2462542920,2462542922,2462542924" 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/Q8IWY9" 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 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=146059" 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=ENSG00000140326;t=ENST00000356231" 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=CDAN1" 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=CDAN1" 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+146059" 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/CDAN1" 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:146059" 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/146059" 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=chr15&hgg_gene=ENST00000356231.4&hgg_start=42723544&hgg_end=42737128&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://search.clinicalgenome.org/kb/gene-dosage/HGNC:1713" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1713" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/cdan1" 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=607465[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 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=607465[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CDAN1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000140326" 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=CDAN1" 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=CDAN1" 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=CDAN1" 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=CDAN1&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/PA26249" 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:1713" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0024510.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1916218" 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/CDAN1#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:1916218" 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/146059/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=146059" 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-110411-280" 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=CDAN1&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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607465
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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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CODANIN 1; CDAN1
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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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DISCS LOST, DROSOPHILA, HOMOLOG OF; DLT
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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=CDAN1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CDAN1</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/15/138?start=-3&limit=10&highlight=138">15q15.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:42723544-42737128&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'})">15:42,723,544-42,737,128</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/15/138?start=-3&limit=10&highlight=138">
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15q15.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Dyserythropoietic anemia, congenital, type Ia
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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/224120"> 224120 </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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<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>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607465" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/607465" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red blood cell disorders associated with dysplastic changes in late erythroid precursors. A cluster of 45 highly inbred Israeli Bedouin permitted <a href="#7" class="mim-tip-reference" title="Tamary, H., Shalmon, L., Shalev, H., Halil, A., Dobrushin, D., Ashkenazi, N., Zoldan, M., Resnitzky, P., Korostishevsky, M., Bonne-Tamir, B., Zaizov, R. <strong>Localization of the gene for congenital dyserythropoietic anemia type I to a less than 1-cM interval on chromosome 15q15.1-15.3.</strong> Am. J. Hum. Genet. 62: 1062-1069, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545404</a>] [<a href="https://doi.org/10.1086/301834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545404">Tamary et al. (1998)</a> to map the gene for CDA type Ia (<a href="/entry/224120">224120</a>) to a 2-Mb interval on chromosome 15q15. <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> refined the localization to a 1.2-Mb interval and identified CDAN1, the gene responsible for CDA type Ia, through the identification of mutations in 9 families with the disorder. The CDAN1 gene product, codanin-1, is a putative O-glycosylated protein of 1,226 amino acids with no obvious transmembrane domains. Codanin-1 has a 150-residue N-terminal domain with sequence similarity to collagens, as well as 2 shorter segments that show weak similarities to the microtubule-associated proteins MAP1B (<a href="/entry/157129">157129</a>) and synapsin (SYN1; <a href="/entry/313440">313440</a>). Alternative splicing produces a variant encoding a 1,103-amino acid isoform. Northern blot analysis detected a 4.7-kb CDAN1 transcript in all 8 tissues tested. Based on their findings and the cellular phenotype of CDA type Ia, <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> suggested that codanin-1 may be involved in nuclear envelope integrity, conceivably related to microtubule attachments. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12434312+9545404" 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>Using several techniques, including sequencing clones that rescued the discs lost (dlt) phenotype in Drosophila, <a href="#5" class="mim-tip-reference" title="Pielage, J., Stork, T., Bunse, I., Klambt, C. <strong>The Drosophila cell survival gene discs lost encodes a cytoplasmic codanin-1-like protein, not a homolog of tight junction PDZ protein Patj.</strong> Dev. Cell 5: 841-851, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667407</a>] [<a href="https://doi.org/10.1016/s1534-5807(03)00358-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14667407">Pielage et al. (2003)</a> determined that CDAN1 is the human homolog of dlt. They showed that dlt is an evolutionarily conserved protein required for cell survival and cell cycle progression in the fly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14667407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> determined that the CDAN1 gene contains 28 exons and spans 15 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> mapped the CDAN1 gene to chromosome 15q15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified 12 different mutations in the CDAN1 gene in 9 families with congenital dyserythropoietic anemia type Ia (CDAN1A; <a href="/entry/224120">224120</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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 1 French family in which a 56-year-old male and his 2 brothers suffered from CDA type I, asthenoteratozoospermia, and nonsyndromic deafness, <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified a point mutation within the codanin gene (N598S; <a href="#0003">607465.0003</a>) as the cause of CDA type Ia. <a href="#2" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> found that these 3 sibs were also homozygous for an approximately 70-kb deletion in chromosome 15q15, which removed the entire stereocilin gene (STRC; <a href="/entry/606440">606440</a>) and truncated the CATSPER2 gene (<a href="/entry/607249">607249</a>). <a href="#2" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> suggested that lack of functional stereocilin, which is mutated in nonsyndromic sensorineural deafness (DFNB16; <a href="/entry/603720">603720</a>), and CATSPER2, a voltage-gated cation channel expressed exclusively in spermatozoa, may explain the observed deafness and male infertility phenotypes, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12434312+12825070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studies of 8 unrelated patients with sporadic CDA type I, 3 of whom had complex bone disease, <a href="#6" class="mim-tip-reference" title="Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J. <strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong> Brit. J. Haemat. 130: 628-634, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098079</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098079">Tamary et al. (2005)</a> identified 6 different mutations in the CDAN1 gene. In 2 patients, only 1 mutation was identified, and in 1 patient, no CDAN1 mutation was identified. No patient was homozygous for a null-type mutation. However, 1 patient with complex bone disease was homozygous for a splice site mutation, IVS12+5G-A (<a href="#0006">607465.0006</a>). Western blotting revealed that codanin-1 synthesis was 65% less than the control in this patient. Although the absence of codanin-1 is probably lethal, the presence of 35% of the protein was compatible with life but was associated with severe clinical manifestations. No correlation could be established between the expected levels of codanin-1 or the nature of the mutation and the severity of the clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098079" 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 15 of 16 CDA I patients analyzed, <a href="#4" class="mim-tip-reference" title="Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E. <strong>Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.</strong> Blood 107: 334-340, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16141353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16141353</a>] [<a href="https://doi.org/10.1182/blood-2005-01-0421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16141353">Heimpel et al. (2006)</a> identified 17 different mutations in at least 1 allele of the CDAN1 gene. All but 1 of the mutations were located in exons 12 to 28; 1 mutation was found in exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16141353" 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> rs80338697 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338697;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/rs80338697?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=rs80338697" 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=rs80338697" 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=RCV000020956 OR RCV001092491 OR RCV001544511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020956, RCV001092491, RCV001544511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020956...</a>
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<p>In Israeli Bedouin patients with type Ia congenital erythropoietic anemia (CDAN1A; <a href="/entry/224120">224120</a>), <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified a homozygous C-to-T transition at nucleotide 3238 in the CDAN1 gene, causing an arg1040-to-trp substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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> rs80338699 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338699;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/rs80338699?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=rs80338699" 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=rs80338699" 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=RCV000020959 OR RCV001267935 OR RCV001839408" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020959, RCV001267935, RCV001839408" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020959...</a>
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<p>In a French Polynesian family with type Ia congenital dyserythropoietic anemia (CDAN1A; <a href="/entry/224120">224120</a>), <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified a C-to-T transition at nucleotide 3503 in the CDAN1 gene, resulting in a pro1129-to-leu substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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>.0003 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</strong>
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CDAN1, ASN598SER
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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> rs120074166 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs120074166;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/rs120074166?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=rs120074166" 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=rs120074166" 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=RCV000003328 OR RCV004698821 OR RCV005007811" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003328, RCV004698821, RCV005007811" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003328...</a>
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<p>In a French family with type Ia congenital dyserythropoietic anemia (CDAN1A; <a href="/entry/224120">224120</a>), <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified homozygosity for an A-to-G transition at nucleotide 1910 in the CDAN1 gene, resulting in an asn598-to-ser substitution. The 3 sibs who were affected also exhibited sensorineural deafness and a lack of motile sperm cells. These symptoms could be accounted for by a large 70-kb deletion 1 Mb distal to the CDAN1 gene. Thus, it appeared to be a case of tightly linked independent mutations on the same haplotype representing a contiguous gene syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others. <strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong> Europ. J. Hum. Genet. 11: 497-502, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825070">Avidan et al. (2003)</a> determined that the 70-kb deletion removed the entire stereocilin gene (STRC; <a href="/entry/606440">606440</a>) and truncated the CATSPER2 gene (<a href="/entry/607249">607249</a>). They suggested that lack of functional stereocilin, which is mutated in nonsyndromic sensorineural deafness (DFNB16; <a href="/entry/603720">603720</a>), and CATSPER2, a voltage-gated cation channel expressed exclusively in spermatozoa, may explain the observed deafness and male infertility phenotypes, respectively, in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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> rs120074167 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs120074167;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/rs120074167?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=rs120074167" 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=rs120074167" 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">rs80338695 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338695;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=rs80338695" 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=rs80338695" 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=RCV000020953 OR RCV000425270 OR RCV002466391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020953, RCV000425270, RCV002466391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020953...</a>
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<p>In a European family, <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified individuals with type Ia congenital dyserythropoietic anemia (CDAN1A; <a href="/entry/224120">224120</a>) who were compound heterozygotes for 2 missense mutations in the CDAN1 gene: a C-to-T transition at nucleotide 2129, resulting an a pro671-to-leu substitution, and a T-to-A transversion at nucleotide 2716, resulting in a phe866-to-ile substitution (<a href="#0005">607465.0005</a>). The mutations occurred in exons 14 and 19, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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">rs120074168 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs120074168;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=rs120074168" 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=rs120074168" 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=RCV000003330" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003330" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003330</a>
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<p>For discussion of the T-to-A transversion at nucleotide 2716 in the CDAN1 gene, resulting in a phe866-to-ile (F866I) substitution, that was found in compound heterozygous state in a patient with congenital dyserythropoietic anemia type Ia (CDAN1A; <a href="/entry/224120">224120</a>) by <a href="#3" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a>, see <a href="#0004">607465.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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> rs113313967 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113313967;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/rs113313967?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=rs113313967" 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=rs113313967" 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=RCV000003331 OR RCV001801349 OR RCV002512698" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003331, RCV001801349, RCV002512698" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003331...</a>
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<p>In an Israeli Arab patient with type Ia congenital dyserythropoietic anemia (CDAN1A; <a href="/entry/224120">224120</a>), <a href="#6" class="mim-tip-reference" title="Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J. <strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong> Brit. J. Haemat. 130: 628-634, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098079</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098079">Tamary et al. (2005)</a> identified homozygosity for a G-to-A transition at the +5 consensus site position in intron 12 (IVS12+5G-A) of the CDAN1 gene. Sequence analysis of exons 11 to 15 revealed an expected 659-bp transcript and an 898-bp transcript that retained intron 12 (139 bp). A 65% decrease in codanin-1 synthesis was estimated. The patient showed dysmorphism of the left foot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</strong>
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CDAN1, VAL372DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs120074169 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs120074169;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=rs120074169" 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=rs120074169" 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=RCV000003332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003332</a>
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<p><a href="#1" class="mim-tip-reference" title="Ahmed, M. R., Chehal, A., Zahed, L., Taher, A., Haidar, J., Shamseddine, A., O'Hea, A.-M., Bienz, N., Dgany, O., Avidan, N., Beckmann, J. S., Tamary, H., Higgs, D., Vyas, P., Wood, W. G., Wickramasinghe, S. N. <strong>Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (Letter)</strong> Blood 107: 4968-4969, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16754775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16754775</a>] [<a href="https://doi.org/10.1182/blood-2006-01-0081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16754775">Ahmed et al. (2006)</a> described a 3-bp in-frame deletion in the CDAN1 gene, resulting in deletion of valine-3721, as the basis of a sporadic case of type Ia congenital dyserythropoietic anemia (CDAN1A; <a href="/entry/224120">224120</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16754775" 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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Ahmed, M. R., Chehal, A., Zahed, L., Taher, A., Haidar, J., Shamseddine, A., O'Hea, A.-M., Bienz, N., Dgany, O., Avidan, N., Beckmann, J. S., Tamary, H., Higgs, D., Vyas, P., Wood, W. G., Wickramasinghe, S. N.
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<strong>Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (Letter)</strong>
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Blood 107: 4968-4969, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16754775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16754775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16754775" 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/10.1182/blood-2006-01-0081" target="_blank">Full Text</a>]
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Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others.
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<strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong>
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Europ. J. Hum. Genet. 11: 497-502, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825070" 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/sj.ejhg.5200991" target="_blank">Full Text</a>]
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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others.
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<strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong>
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Am. J. Hum. Genet. 71: 1467-1474, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[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=12434312" 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/10.1086/344781" target="_blank">Full Text</a>]
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Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E.
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<strong>Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.</strong>
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Blood 107: 334-340, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16141353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16141353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16141353" 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/10.1182/blood-2005-01-0421" target="_blank">Full Text</a>]
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Pielage, J., Stork, T., Bunse, I., Klambt, C.
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<strong>The Drosophila cell survival gene discs lost encodes a cytoplasmic codanin-1-like protein, not a homolog of tight junction PDZ protein Patj.</strong>
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Dev. Cell 5: 841-851, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14667407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14667407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14667407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J.
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<strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong>
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Brit. J. Haemat. 130: 628-634, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098079" 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/10.1111/j.1365-2141.2005.05642.x" target="_blank">Full Text</a>]
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<a id="Tamary1998" class="mim-anchor"></a>
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Tamary, H., Shalmon, L., Shalev, H., Halil, A., Dobrushin, D., Ashkenazi, N., Zoldan, M., Resnitzky, P., Korostishevsky, M., Bonne-Tamir, B., Zaizov, R.
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<strong>Localization of the gene for congenital dyserythropoietic anemia type I to a less than 1-cM interval on chromosome 15q15.1-15.3.</strong>
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Am. J. Hum. Genet. 62: 1062-1069, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545404" 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/10.1086/301834" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 9/28/2006
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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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Marla J. F. O'Neill - updated : 3/31/2006<br>Victor A. McKusick - updated : 10/11/2005<br>Patricia A. Hartz - updated : 12/2/2004<br>Patricia A. Hartz - updated : 5/14/2004
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</span>
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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 : 1/8/2003
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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 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 : 01/02/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 01/01/2023<br>carol : 02/11/2014<br>ckniffin : 2/10/2014<br>carol : 10/3/2006<br>terry : 9/28/2006<br>wwang : 3/31/2006<br>wwang : 10/27/2005<br>wwang : 10/21/2005<br>terry : 10/11/2005<br>carol : 12/21/2004<br>mgross : 12/2/2004<br>mgross : 5/14/2004<br>terry : 5/14/2004<br>mgross : 1/8/2003
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607465
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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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CODANIN 1; CDAN1
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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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<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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DISCS LOST, DROSOPHILA, HOMOLOG OF; DLT
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</h4>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CDAN1</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: 15q15.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:42,723,544-42,737,128 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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15q15.2
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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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Dyserythropoietic anemia, congenital, type Ia
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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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224120
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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">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<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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</h4>
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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>Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red blood cell disorders associated with dysplastic changes in late erythroid precursors. A cluster of 45 highly inbred Israeli Bedouin permitted Tamary et al. (1998) to map the gene for CDA type Ia (224120) to a 2-Mb interval on chromosome 15q15. Dgany et al. (2002) refined the localization to a 1.2-Mb interval and identified CDAN1, the gene responsible for CDA type Ia, through the identification of mutations in 9 families with the disorder. The CDAN1 gene product, codanin-1, is a putative O-glycosylated protein of 1,226 amino acids with no obvious transmembrane domains. Codanin-1 has a 150-residue N-terminal domain with sequence similarity to collagens, as well as 2 shorter segments that show weak similarities to the microtubule-associated proteins MAP1B (157129) and synapsin (SYN1; 313440). Alternative splicing produces a variant encoding a 1,103-amino acid isoform. Northern blot analysis detected a 4.7-kb CDAN1 transcript in all 8 tissues tested. Based on their findings and the cellular phenotype of CDA type Ia, Dgany et al. (2002) suggested that codanin-1 may be involved in nuclear envelope integrity, conceivably related to microtubule attachments. </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>Using several techniques, including sequencing clones that rescued the discs lost (dlt) phenotype in Drosophila, Pielage et al. (2003) determined that CDAN1 is the human homolog of dlt. They showed that dlt is an evolutionarily conserved protein required for cell survival and cell cycle progression in the fly. </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>Dgany et al. (2002) determined that the CDAN1 gene contains 28 exons and spans 15 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dgany et al. (2002) mapped the CDAN1 gene to chromosome 15q15. </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>Dgany et al. (2002) identified 12 different mutations in the CDAN1 gene in 9 families with congenital dyserythropoietic anemia type Ia (CDAN1A; 224120). </p><p>In 1 French family in which a 56-year-old male and his 2 brothers suffered from CDA type I, asthenoteratozoospermia, and nonsyndromic deafness, Dgany et al. (2002) identified a point mutation within the codanin gene (N598S; 607465.0003) as the cause of CDA type Ia. Avidan et al. (2003) found that these 3 sibs were also homozygous for an approximately 70-kb deletion in chromosome 15q15, which removed the entire stereocilin gene (STRC; 606440) and truncated the CATSPER2 gene (607249). Avidan et al. (2003) suggested that lack of functional stereocilin, which is mutated in nonsyndromic sensorineural deafness (DFNB16; 603720), and CATSPER2, a voltage-gated cation channel expressed exclusively in spermatozoa, may explain the observed deafness and male infertility phenotypes, respectively. </p><p>In studies of 8 unrelated patients with sporadic CDA type I, 3 of whom had complex bone disease, Tamary et al. (2005) identified 6 different mutations in the CDAN1 gene. In 2 patients, only 1 mutation was identified, and in 1 patient, no CDAN1 mutation was identified. No patient was homozygous for a null-type mutation. However, 1 patient with complex bone disease was homozygous for a splice site mutation, IVS12+5G-A (607465.0006). Western blotting revealed that codanin-1 synthesis was 65% less than the control in this patient. Although the absence of codanin-1 is probably lethal, the presence of 35% of the protein was compatible with life but was associated with severe clinical manifestations. No correlation could be established between the expected levels of codanin-1 or the nature of the mutation and the severity of the clinical manifestations. </p><p>In 15 of 16 CDA I patients analyzed, Heimpel et al. (2006) identified 17 different mutations in at least 1 allele of the CDAN1 gene. All but 1 of the mutations were located in exons 12 to 28; 1 mutation was found in exon 6. </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">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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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CDAN1, ARG1040TRP
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<br />
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|
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SNP: rs80338697,
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|
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gnomAD: rs80338697,
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|
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ClinVar: RCV000020956, RCV001092491, RCV001544511
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In Israeli Bedouin patients with type Ia congenital erythropoietic anemia (CDAN1A; 224120), Dgany et al. (2002) identified a homozygous C-to-T transition at nucleotide 3238 in the CDAN1 gene, causing an arg1040-to-trp substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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CDAN1, PRO1129LEU
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<br />
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SNP: rs80338699,
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gnomAD: rs80338699,
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ClinVar: RCV000020959, RCV001267935, RCV001839408
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a French Polynesian family with type Ia congenital dyserythropoietic anemia (CDAN1A; 224120), Dgany et al. (2002) identified a C-to-T transition at nucleotide 3503 in the CDAN1 gene, resulting in a pro1129-to-leu substitution. </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>.0003 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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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CDAN1, ASN598SER
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<br />
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SNP: rs120074166,
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gnomAD: rs120074166,
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ClinVar: RCV000003328, RCV004698821, RCV005007811
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a French family with type Ia congenital dyserythropoietic anemia (CDAN1A; 224120), Dgany et al. (2002) identified homozygosity for an A-to-G transition at nucleotide 1910 in the CDAN1 gene, resulting in an asn598-to-ser substitution. The 3 sibs who were affected also exhibited sensorineural deafness and a lack of motile sperm cells. These symptoms could be accounted for by a large 70-kb deletion 1 Mb distal to the CDAN1 gene. Thus, it appeared to be a case of tightly linked independent mutations on the same haplotype representing a contiguous gene syndrome. </p><p>Avidan et al. (2003) determined that the 70-kb deletion removed the entire stereocilin gene (STRC; 606440) and truncated the CATSPER2 gene (607249). They suggested that lack of functional stereocilin, which is mutated in nonsyndromic sensorineural deafness (DFNB16; 603720), and CATSPER2, a voltage-gated cation channel expressed exclusively in spermatozoa, may explain the observed deafness and male infertility phenotypes, respectively, in this family. </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 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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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CDAN1, PRO671LEU
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<br />
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SNP: rs120074167, rs80338695,
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gnomAD: rs120074167,
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ClinVar: RCV000020953, RCV000425270, RCV002466391
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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 European family, Dgany et al. (2002) identified individuals with type Ia congenital dyserythropoietic anemia (CDAN1A; 224120) who were compound heterozygotes for 2 missense mutations in the CDAN1 gene: a C-to-T transition at nucleotide 2129, resulting an a pro671-to-leu substitution, and a T-to-A transversion at nucleotide 2716, resulting in a phe866-to-ile substitution (607465.0005). The mutations occurred in exons 14 and 19, respectively. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
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CDAN1, PHE866ILE
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<br />
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SNP: rs120074168,
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ClinVar: RCV000003330
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</span>
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<span class="mim-text-font">
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<p>For discussion of the T-to-A transversion at nucleotide 2716 in the CDAN1 gene, resulting in a phe866-to-ile (F866I) substitution, that was found in compound heterozygous state in a patient with congenital dyserythropoietic anemia type Ia (CDAN1A; 224120) by Dgany et al. (2002), see 607465.0004. </p>
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</span>
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</div>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0006 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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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CDAN1, IVS12, G-A, +5
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<br />
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SNP: rs113313967,
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gnomAD: rs113313967,
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ClinVar: RCV000003331, RCV001801349, RCV002512698
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Israeli Arab patient with type Ia congenital dyserythropoietic anemia (CDAN1A; 224120), Tamary et al. (2005) identified homozygosity for a G-to-A transition at the +5 consensus site position in intron 12 (IVS12+5G-A) of the CDAN1 gene. Sequence analysis of exons 11 to 15 revealed an expected 659-bp transcript and an 898-bp transcript that retained intron 12 (139 bp). A 65% decrease in codanin-1 synthesis was estimated. The patient showed dysmorphism of the left foot. </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>.0007 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia</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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CDAN1, VAL372DEL
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<br />
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SNP: rs120074169,
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ClinVar: RCV000003332
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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>Ahmed et al. (2006) described a 3-bp in-frame deletion in the CDAN1 gene, resulting in deletion of valine-3721, as the basis of a sporadic case of type Ia congenital dyserythropoietic anemia (CDAN1A; 224120). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ahmed, M. R., Chehal, A., Zahed, L., Taher, A., Haidar, J., Shamseddine, A., O'Hea, A.-M., Bienz, N., Dgany, O., Avidan, N., Beckmann, J. S., Tamary, H., Higgs, D., Vyas, P., Wood, W. G., Wickramasinghe, S. N.
|
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<strong>Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (Letter)</strong>
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Blood 107: 4968-4969, 2006.
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[PubMed: 16754775]
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[Full Text: https://doi.org/10.1182/blood-2006-01-0081]
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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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Avidan, N., Tamary, H., Dgany, O., Cattan, D., Pariente, A., Thulliez, M., Borot, N., Moati, L., Barthelme, A., Shalmon, L., Krasnov, T., Ben-Asher, E., and 9 others.
|
|
<strong>CATSPER2, a human autosomal nonsyndromic male infertility gene.</strong>
|
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Europ. J. Hum. Genet. 11: 497-502, 2003.
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[PubMed: 12825070]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200991]
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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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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others.
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|
<strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong>
|
|
Am. J. Hum. Genet. 71: 1467-1474, 2002.
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[PubMed: 12434312]
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[Full Text: https://doi.org/10.1086/344781]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E.
|
|
<strong>Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.</strong>
|
|
Blood 107: 334-340, 2006.
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[PubMed: 16141353]
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[Full Text: https://doi.org/10.1182/blood-2005-01-0421]
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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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Pielage, J., Stork, T., Bunse, I., Klambt, C.
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<strong>The Drosophila cell survival gene discs lost encodes a cytoplasmic codanin-1-like protein, not a homolog of tight junction PDZ protein Patj.</strong>
|
|
Dev. Cell 5: 841-851, 2003.
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[PubMed: 14667407]
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[Full Text: https://doi.org/10.1016/s1534-5807(03)00358-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J.
|
|
<strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong>
|
|
Brit. J. Haemat. 130: 628-634, 2005.
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[PubMed: 16098079]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2005.05642.x]
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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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Tamary, H., Shalmon, L., Shalev, H., Halil, A., Dobrushin, D., Ashkenazi, N., Zoldan, M., Resnitzky, P., Korostishevsky, M., Bonne-Tamir, B., Zaizov, R.
|
|
<strong>Localization of the gene for congenital dyserythropoietic anemia type I to a less than 1-cM interval on chromosome 15q15.1-15.3.</strong>
|
|
Am. J. Hum. Genet. 62: 1062-1069, 1998.
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[PubMed: 9545404]
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[Full Text: https://doi.org/10.1086/301834]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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Contributors:
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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 - updated : 9/28/2006<br>Marla J. F. O'Neill - updated : 3/31/2006<br>Victor A. McKusick - updated : 10/11/2005<br>Patricia A. Hartz - updated : 12/2/2004<br>Patricia A. Hartz - updated : 5/14/2004
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</span>
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</div>
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</div>
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 1/8/2003
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carol : 01/02/2023<br>carol : 01/01/2023<br>carol : 02/11/2014<br>ckniffin : 2/10/2014<br>carol : 10/3/2006<br>terry : 9/28/2006<br>wwang : 3/31/2006<br>wwang : 10/27/2005<br>wwang : 10/21/2005<br>terry : 10/11/2005<br>carol : 12/21/2004<br>mgross : 12/2/2004<br>mgross : 5/14/2004<br>terry : 5/14/2004<br>mgross : 1/8/2003
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