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心脏型肌钙蛋白T基因14035c>t突变导致家族性肥厚型心肌病的临床表型分析
作者姓名:Wang SX  Zou YB  Fu CY  Song L  Wang H  Wang JZ  Song XD  Chen JZ  Hui RT
作者单位:100037,北京,中国医学科学院,中国协和医科大学,心血管病研究所,阜外心血管病医院,中-德分子医学研究室,教育部心血管病基因与临床研究重点实验室
基金项目:北京市自然科学基金资助项目(704001)
摘    要:目的研究中国人肥厚型心肌病(HCM)致病基因,分析基因型与临床表型的关系。方法在一个HCM家系中进行心脏型肌钙蛋白T基因(TNNT2)、心脏型肌球蛋白结合蛋白C基因(MYBPC3)和β-肌球蛋白重链基因(MYH7)突变筛查,利用聚合酶链反应(PCa)扩增其功能区的外显子片段,双脱氧末段终止法测序。家系调查资料包括临床表现、体格检查、心脏超声和心电图。结果在该家系接受家系调查的10例对象中4例携带TNNT2 14035c〉t(R130C)突变,全部于40岁之前发病,外显率100%。正常对照组同一位置未见异常,该突变位点使TNNT2基因第10号外显子130位的精氨酸变为半胱氨酸,先证者及其两兄长皆以心功能不全表现为主,先证者的两位兄长在我们随访过程中发生猝死。MYH7及MYBPC3基因未发现突变。结论TNNT2基因14035c〉t突变是该HCM家系的致病突变。其携带者的临床表型较恶。对于临床表型较恶,猝死发生率较高HCM家系有必要进行TNNT2的突变筛查。

关 键 词:心肌病  肥大型  肌钙蛋白T  突变
修稿时间:2006-08-29

Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene
Wang SX,Zou YB,Fu CY,Song L,Wang H,Wang JZ,Song XD,Chen JZ,Hui RT.Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene[J].National Medical Journal of China,2007,87(6):371-374.
Authors:Wang Shu-Xia  Zou Yu-Bao  Fu Chun-Yan  Song Lei  Wang Hu  Wang Ji-Zheng  Song Xiao-Dong  Chen Jing-Zhou  Hui Ru-Tai
Institution:Sino-German Laboratory For Molecular Medicine, Fuwai Cardiovascular Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences, Beijing 100037, China
Abstract:OBJECTIVE: To study the disease-causing gene mutation in Chinese patients with familial hypertrophic cardiomyopathy (FHC) and to analyze the correlation between the genotype and the phenotype. METHODS: Peripheral blood samples were collected from 40 members from a family affected with FHC, and 120 healthy volunteers. PCR was performed to analyze the exons and flanking introns of the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7), and myosin-binding protein C gene (MYBPC3) and the products were sequenced. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. RESULTS: A 14035c > t mutation, which causes a missense mutation (R130C) in exon 10 of TNNT2 gene were identified in 4 family members, including the proband, female, aged 53, with the onset at the age of 30. The 4 persons with the 14035c > t mutation, all FHC patients, presented left ventricular dysfunction with a penetrance of 100%. Two of the patients died of sudden cardiac death during follow-up. No mutation was identified in the MYH7 and MYBPC3 genes. CONCLUSION: The 14035c > t mutation of TNNT2 gene is the causal mutation of FHC which is associated with malignant phenotype with a penetrance of 100%. It is a reasonable procedure in HCM patients with malignant phenotype to screen mutation in the TNNT2 gene.
Keywords:Cardiomyopathy  hypertrophic  Troponin T  Mutation
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