中国先天性心脏病患儿中 CFC1 突变。
CFC1 mutations in Chinese children with congenital heart disease.
出版信息
Int J Cardiol. 2011 Jan 7;146(1):86-8. doi: 10.1016/j.ijcard.2009.07.034. Epub 2009 Oct 23.
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.
背景
先天性心脏病（CHD）是最常见的人类出生缺陷之一。在过去的几十年中，已经鉴定出多种导致 CHD 的基因突变。本研究的目的是在 500 名患有 CHD 的中国儿童中鉴定 Cryptic（CFC1）基因中的潜在病理性突变，并深入了解 CHD 的病因。
方法
对 500 名非综合征性 CHD 患者和 250 名健康对照者的 CFC1 进行序列分析。
结果
我们鉴定出三个新的非同义变异（c. G506T p. Gly169Val；c. G517A p. Gly173Arg；c. G658T p. Leu219Phe）。这些变异在 250 个对照中均未观察到。所有非同义变异均位于或非常靠近疏水性 C 末端。
结论
据我们所知，这是第一项表明 CFC1 可能参与中国人群中非综合征性 CHD 病因的研究。
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