PRKAG2基因R302Q突变致同胞兄弟不同临床表现的研究  

Same AMPKγ2 R302Q Mutation Encoded by PRKAG2 Defection Result in Different Phenotypes in Two Brother Cases

作　　者：刘湘玮[1] 王聪[1] 孙爱军[1,2] 王鹏[3] 管丽华[1] 程蕾蕾[1] 葛均波[1,2] 

机构地区：[1]复旦大学附属中山医院心内科,上海市200032 [2]复旦大学生物医学研究院,上海市200032 [3]山东大学,济南市250100

出　　处：《中国分子心脏病学杂志》2013年第2期486-488,共3页Molecular Cardiology of China

基　　金：新世纪优秀人才项目支持计划;国家自然科学基金面上项目(编号:81170202)

摘　　要：目的本研究报道了均携带R302Q突变却具有完全不同临床表现的同胞兄弟二人病例,分析R302Q突变引起PRKAG2心脏综合征的异质性。方法收集临床资料并进行基因测序检测其突变,结合其他家系和实验研究结果进行分析。结果心脏超声示先证者心肌肥厚,其胞弟心超未见明显异常。先证者心电图呈现比较典型的PRKAG2心脏综合征心电图改变如Ⅱ度房室传导阻滞,而胞弟则有偶尔腿部肌肉酸痛和肌型肌酸激酶同功酶(CK-MM)升高表现。结论本研究中兄弟二人截然不同的临床表现显示,即使在同一家系中,R302Q突变引起PRKAG2心脏综合征也具有显著的异质性。Objective The PRKAG2 cardiac syndrome is a rare, autosomal dominant genetic heart disease. Here we reported the differences of the phenotype in two brother cases with same PRKAG2 R302Q mutation. Methods Clinical informations were evaluated as well as genetic analysis performed. Results Ventricular hypertrophy were identified in proband case by echocardiography, however, there was no obvious anomaly in younger brother case. The proband presented relatively typical electrocardiographic abnormalities （for example, second degree atrioventricular block） , intriguingly, myalgia and the elevated CK-MM level were found in younger brother case. Conclusions This study identifies the complexity of phe- notype-genotype relationship of PRKAG2 cardiac syndrome and has importantclinical practice implications, which may be helpful to make earlier diagnosis among high risk patients.

关 键 词：PRKAG2基因 R302Q突变 AMPKγ2亚基 

分 类 号：R541[医药卫生—心血管疾病]