RGD Reference Report - Duplication and deletion of CFC1 associated with heterotaxy syndrome. - Rat Genome Database

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Duplication and deletion of CFC1 associated with heterotaxy syndrome.

Authors: Cao, Ruixue  Long, Fei  Wang, Liping  Xu, Yuejuan  Guo, Ying  Li, Fen  Chen, Sun  Sun, Kun  Xu, Rang 
Citation: Cao R, etal., DNA Cell Biol. 2015 Feb;34(2):101-6. doi: 10.1089/dna.2014.2616. Epub 2014 Nov 25.
RGD ID: 155226881
Pubmed: PMID:25423076   (View Abstract at PubMed)
PMCID: PMC4308825   (View Article at PubMed Central)
DOI: DOI:10.1089/dna.2014.2616   (Journal Full-text)

Heterotaxy syndrome, which causes significant morbidity and mortality, is a class of congenital disorders, in which normal left-right asymmetry cannot be properly established. To explore the role of copy number variants (CNVs) in the occurrence of heterotaxy syndrome, we recruited 93 heterotaxy patients and studied 12 of them by the Affymetrix Genome-Wide Human SNP 6.0 Array. The results were confirmed in the remaining 81 patients and 500 healthy children by quantitative real-time polymerase chain reaction (qPCR). The analysis of the SNP6.0 array showed a duplication of chromosome 2q21.1, which was verified by qPCR. The result of qPCR in the other 81 patients showed that 8/81 patients had the CNVs of 2q21.1 and the only overlapping gene in these patients is CFC1. However, in the 500 healthy children, only one carried the duplication of CFC1 (p=3.5×10(-7)). The duplication and deletion of CFC1 may play key roles in the occurrence of heterotaxy syndrome. Moreover, the transposed great arteries, double outlet right ventricle, single atrium, and single ventricle may share a common genetic etiology with the heterotaxy syndrome.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CFC1BHumanvisceral heterotaxy  IAGP DNA:CNVs::2q21.1 (human)RGD 
Cfc1Mousevisceral heterotaxy  ISOCFC1B (Homo sapiens)DNA:CNVs::2q21.1 (human)RGD 
Cfc1Ratvisceral heterotaxy  ISOCFC1B (Homo sapiens)DNA:CNVs::2q21.1 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CFC1BHumanAbnormal heart morphology  IAGP DNA:CNVs::2q21.1 (human)RGD 
CFC1BHumanPulmonic stenosis  IAGP DNA:CNVs::2q21.1 (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cfc1  (cripto, FRL-1, cryptic family 1)

Genes (Mus musculus)
Cfc1  (cryptic, EGF-CFC family member 1)

Genes (Homo sapiens)
CFC1B  (cryptic, EGF-CFC family member 1B)


Additional Information