Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report
1 Department of Gynecology and Obstetrics, South-West Hospital, Third Military Medical University, Chongqing, 400038, China
2 National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, China
3 Department of Gynecology and Obstetrics, 261st Hospital of P.L.A, Beijing, 100094, China
4 Department of Gynecology and Obstetrics, Chengdu Military General Hospital, Chengdu, Sichuan, 610083, China
BMC Medical Genetics 2012, 13:63 doi:10.1186/1471-2350-13-63Published: 2 August 2012
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.
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.
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.