Yang Jun-hua, Zheng Dong-dong, Dong Ning-zheng, Yang Xiang-jun, Song Jian-ping, Jiang Ting-bo, Cheng Xu-jie, Li Hong-xia, Zhou Bing-yuan, Zhao Cai-ming, Jiang Wen-ping
Department of Cardiology, First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Chin Med J (Engl). 2006 Nov 5;119(21):1785-9.
Hypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the beta-myosin heavy chain (beta-MHC) are the most common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype.
The exons 3 to 26 of MYH7 were amplified by PCR, and the PCR products were sequenced in five non-kin HCM patients. A 17-year-old patient was detected to be an Arg723Gly mutation carrier. Then his family was gene-screened, and the correlation between genotype and phenotype was analyzed.
The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. With a C-G transversion in nucleotide 13,619 of the MYH7 gene, located at the essential light chain interacting region in S1, the replacement of arginine by glycine took place at amino acid residue 723. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atria enlargement. There was no obstruction in the left ventricular outflow tract. In his family, a total of 13 individuals were diagnosed HCM and 5 of them were dead of congestive heart failure at a mean age of 66-year-old. Eight living members were all detected to carry the mutation, in which 3 developed progressive heart failure. Moreover, the heart function of the people evidently deteriorates when their age are older than 50. The mutation and the disease show co-separated.
The Arg723Gly mutation is a malignant type. In Chinese the mutation has the similar characters to the former report but has low degree malignant.
肥厚型心肌病（HCM）是一种常染色体显性遗传性心肌病，由至少一种肌节蛋白基因突变引起。β-肌球蛋白重链（β-MHC）突变是HCM最常见的病因。本研究旨在揭示中国HCM患者的致病基因突变，并分析基因型与表型之间的相关性。
采用聚合酶链反应（PCR）扩增MYH7基因的第3至26外显子，并对5例无亲缘关系的HCM患者的PCR产物进行测序。检测到一名17岁患者为Arg723Gly突变携带者。随后对其家族进行基因筛查，并分析基因型与表型之间的相关性。
首次在中国一个HCM家系中检测到Arg723Gly突变。该突变位于MYH7基因第13619位核苷酸处，发生C-G颠换，位于S1区的必需轻链相互作用区域，导致氨基酸残基723处的精氨酸被甘氨酸取代。二维超声心动图显示中度不对称性室间隔肥厚伴左心房扩大。左心室流出道无梗阻。在其家族中，共有13人被诊断为HCM，其中5人死于充血性心力衰竭，平均年龄66岁。8名在世成员均检测到携带该突变，其中3人出现进行性心力衰竭。此外，年龄超过50岁的人群心脏功能明显恶化。该突变与疾病表现为共分离。
Arg723Gly突变是一种恶性类型。在中国人群中，该突变具有与先前报道相似的特征，但恶性程度较低。
