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Case Reports
. 2012 Aug 2:13:63.
doi: 10.1186/1471-2350-13-63.

Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

Bihui Bao  1 , Liang Zhang, Hua Hu, Shuxin Yin, Zhiqing Liang
Affiliations
Case Reports

Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

Bihui Bao et al. BMC Med Genet. .

Abstract

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.

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Figures

Figure 1
Figure 1
The copy number deletion region on 14q23.1 identified by Affymetrix SNP array 6.0 ( http://www.genome.ucsc.edu/). Scatter plots with grey and purple points represented the log2 ratio of copy number in the fetal blood DNA (A) and myocardium DNA (B) respectively. The baseline in A and B was marked as normal copy number while the spots above the baseline means amplification and below the baseline deletion. Visualized DNA copy number in the fetal blood (C) and myocardium (D) was obtained from the mean of probe signals. Physical locus of the deletion on 14q23.1 is shown in panel E. Both DAAM1 and KIAA0666 genes were harbored (as of March 2006).
Figure 2
Figure 2
Comparison of DAAM1 abundance between the CHD fetal blood and the control blood. DAAM1 was significantly reduced in the three targeted genomic regions (P < 0.001). Error bars showed the standard deviation (n ≥ 3).
Figure 3
Figure 3
Quantification of DAAM1 abundance in the CHD fetal myocardium and the control blood. DAAM1 was significantly lower in the fetal myocardium than that in the control blood (P < 0.01). Error bars were the standard deviation (n  ≥ 3).
See this image and copyright information in PMC

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