CFC1 mutations in Chinese children with congenital heart disease.
BACKGROUND
Congenital heart disease (CHD) is one of the most common human birth defects. Over the last few decades, a variety of CHD-causing gene mutations have been identified. The aim of this study was to identify potential pathological mutations in the Cryptic (CFC1) gene in 500 Chinese children with CHD and to gain insight into the etiology of CHD.


METHODS
Sequence analysis of CFC1 in 500 non-syndromic CHD patients and 250 healthy controls.


RESULTS
We identified three novel non-synonymous variants (c. G506T p. Gly169Val; c. G517A p. Gly173Arg; c. G658T p. Leu219Phe). These variants were not observed in 250 controls. All of the non-synonymous variants were located in or very close to the hydrophobic C-terminus.


CONCLUSIONS
To our knowledge, this is the first study to suggest that CFC1 may be involved in the etiology of non-syndromic CHD in a Chinese population.
Binbin
B
Wang
Jing
J
Wang
Shiguo
S
Liu
Xiaoyang
X
Han
XiaoDong
X
Xie
You
Y
Tao
Jinting
J
Yan
Xu
X
Ma
D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D002648:Child; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*
C491268:CFC1 protein, human; D036341:Intercellular Signaling Peptides and Proteins