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BMC Medical Genetics

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Open Access 01-12-2012 | Case report

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

Authors: Bihui Bao, Liang Zhang, Hua Hu, Shuxin Yin, Zhiqing Liang

Published in: BMC Medical Genetics | Issue 1/2012

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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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/13/63/prepub

Title: Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report
Authors: Bihui Bao
Liang Zhang
Hua Hu
Shuxin Yin
Zhiqing Liang
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-13-63

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Background

Case Presentation

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case Presentation

Conclusions

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