Wang Hu, Zou Yu-Bao, Song Lei, Wang Ji-Zheng, Sun Kai, Song Xiao-Dong, Zhang Chan-Na, Hui Ru-Tai
Sino-German Laboratory for Molecular Medicine, Fuwai Cardiovascular Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100037, China.
Zhonghua Yi Xue Za Zhi. 2008 Dec 2;88(44):3120-2.
To study the disease-causing gene mutations in familial hypertrophic cardiomyopathy (HCM) in Chinese and to reveal the relationship between the genotype and the phenotype.
Peripheral blood samples were collected from 12 members of a HCM family, and 120 healthy volunteers in China. PCR and double deoxygenation chain termination method were used to analyze the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) gene and myosin binding protein C gene (MYBPC3) and to detect mutations.
Mutation G14452A was identified in exon 22 of MYH7 gene in 4 family members, causing the conversion of glycine (G) into glutamic acid (E). The onset ages and clinical manifestations of the family members carrying the mutation G823E, including 2 patients (the proband, male, with the onset age of 51, and his 26-year-old second son with the onset age of 20), and 2 carriers (his 31-year-old elder son and 29-year-old elder daughter), presented significant individual differences.
The G823E mutation of MYH7 gene is the causal mutation of familial HCM. The heterogeneity of phenotypes suggests that multiple factors may be involved in the pathogenesis of HCM.
研究中国家族性肥厚型心肌病（HCM）的致病基因突变，揭示基因型与表型之间的关系。
采集一个HCM家族的12名成员以及120名中国健康志愿者的外周血样本。采用聚合酶链反应（PCR）和双脱氧链终止法分析心肌肌钙蛋白T基因（TNNT2）、β-肌球蛋白重链基因（MYH7）和肌球蛋白结合蛋白C基因（MYBPC3）并检测突变。
在4名家族成员的MYH7基因第22外显子中鉴定出G14452A突变，导致甘氨酸（G）转变为谷氨酸（E）。携带G823E突变的家族成员（包括2例患者，即先证者，男性，发病年龄51岁，其26岁的次子发病年龄20岁，以及2名携带者，即其31岁的长子和29岁的长女）的发病年龄和临床表现存在显著个体差异。
MYH7基因的G823E突变是家族性HCM的致病突变。表型的异质性表明HCM发病机制可能涉及多种因素。
