Wang Shu-xia, Zou Yu-bao, Fu Chun-yan, Wang Hu, Wang Ji-zheng, Song Xiao-dong, Chen Jing-zhou, Hui Ru-tai
Sino-German Laboratory for Molecular Medicine, Fu Wai Cardiovascular Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2007 Jan;35(1):17-20.
To study the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation.
One family (n = 27) affected with HCM were chosen for the study. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. The clinical data including symptom, physical, echocardiography and electrocardiography examinations were collected.
We identified a 13261 G > A mutation, which causes a missense mutation (G758D) in exon 23 of MYBPC3 in 9 family members. One mutation carrier suffered from dilated cardiomyopathy (DCM) with asymmetric interventricular septal hypertrophy (14 mm). Another mutation carrier was diagnosed as HCM.
The 13261 G > A mutation is associated with a DCM-like HCM and HCM phenotype in this Chinese family affected with HCM.
研究中国肥厚型心肌病（HCM）患者的致病基因突变，并分析基因型与表型的相关性。
选取一个患HCM的家系（n = 27）进行研究。采用聚合酶链反应（PCR）扩增β-肌球蛋白重链基因（MYH7）和心肌肌球蛋白结合蛋白C基因（MYBPC3）的全部编码外显子及其侧翼序列，并对产物进行测序。收集包括症状、体格检查、超声心动图和心电图检查在内的临床资料。
我们在9名家庭成员中鉴定出一个13261 G>A突变，该突变导致MYBPC3第23外显子发生错义突变（G758D）。一名突变携带者患有扩张型心肌病（DCM），伴有不对称性室间隔肥厚（14 mm）。另一名突变携带者被诊断为HCM。
在这个患HCM的中国家系中，13261 G>A突变与类似DCM的HCM和HCM表型相关。
