title: Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report.
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.
  
  
  METHODS
  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.
authors.affiliation: Department of Gynecology and Obstetrics, South-West Hospital, Third Military Medical University, Chongqing, China.
authors.forename: Bihui
authors.initials: B
authors.lastname: Bao
authors.forename: Liang
authors.initials: L
authors.lastname: Zhang
authors.forename: Hua
authors.initials: H
authors.lastname: Hu
authors.forename: Shuxin
authors.initials: S
authors.lastname: Yin
authors.forename: Zhiqing
authors.initials: Z
authors.lastname: Liang
mesh_terms: D000025:Abortion, Eugenic; D000029:Abortion, Legal; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D056915:DNA Copy Number Variations; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008840:Microfilament Proteins; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020741:rho GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C499094:DAAM1 protein, human; D008840:Microfilament Proteins; D020741:rho GTP-Binding Proteins