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author:("Yin, shubin")
1.  Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report 
BMC Medical Genetics  2012;13:63.
Background
With an increasing incidence of congenital heart defects (CHDs) in recent years, genotype-phenotype correlation and array-based methods have contributed to the genome-wide analysis and understanding of genetic variations in the CHD population. Here, we report a copy number deletion of chromosomal 14q23.1 in a female fetus with complex congenital heart defects. This is the first description of DAAM1 gene deletion associated with congenital heart anomalies.
Case Presentation
Compared with the control population, one CHD fetus showed a unique copy number deletion of 14q23.1, a region that harbored DAAM1 and KIAA0666 genes.
Conclusions
Results suggest that the copy number deletion on chromosome 14q23.1 may be critical for cardiogenesis. However, the exact relationship and mechanism of how DAAM1 and KIAA0666 deletion contributes to the onset of CHD is yet to be determined.
doi:10.1186/1471-2350-13-63
PMCID: PMC3482563  PMID: 22857009
Congenital heart defect; Copy number deletion; DAAM1 gene

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