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.

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

Result: 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.