中国汉族心肌病患者FLNC基因变异的家系研究  

Pedigree study of FLNC variants in Chinese Han patients with cardiomyopathy

作　　者：李雪洁 周年伟 孙敏敏 李伟 汪咏莳 谢惠琳 舒先红 LI Xue-jie;ZHOU Nian-wei;SUN Min-min;LI Wei;WANG Yong-shi;XIE Hui-lin;SHU Xian-hong(Department of Echocardiography,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Cardiology,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Shanghai Institute of Medical Imaging,Shanghai 200032,China;Shanghai Institute of Cardiovascular Diseases,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院心超室,上海200032 [2]复旦大学附属中山医院心内科,上海200032 [3]上海市影像医学研究所,上海200032 [4]上海市心血管病研究所,上海200032

出　　处：《复旦学报（医学版）》2021年第5期586-591,共6页Fudan University Journal of Medical Sciences

基　　金：国家自然科学基金面上项目(82071933);上海市科委“科技创新行动计划”基础研究领域项目(20JC1418400)。

摘　　要：目的探究汉族心肌病患者细丝蛋白C(filamin C,FLNC)基因变异及表型特点,进一步完善FLNC变异谱。方法纳入150名肥厚型心肌病(hypertrophic cardiomyopathy,HCM)和50名扩张型心肌病(dilated cardiomyopathy,DCM)患者,进行外周血DNA全外显子组测序,并对测序结果进行分析和筛选,对携带FLNC基因变异的先证者及家属进行Sanger测序验证,收集先证者及家属的临床信息。结果在所有先证者中,共检测到6例患者携带FLNC变异,且均为未曾发表过的新变异,1例为家族性DCM,其余为散发病例,HCM患者均为错义变异,DCM患者均为截断变异。结论不同类型的FLNC变异通过不同机制参与多种心肌病的发生,本研究初步总结了不同变异与心肌病表型的关联,并进一步扩大了汉族心肌病患者FLNC的基因变异谱。Objective To investigate the gene variation and phenotype characteristics of filamin C(FLNC)in Han patients with cardiomyopathy,and further improve the variant spectrum of FLNC.Methods A total of 150 patients with hypertrophic cardiomyopathy(HCM)and 50 patients with dilated cardiomyopathy(DCM)were enrolled in this study.The whole exome sequencing of DNA from patient’s peripheral blood was performed.The sequencing results were analyzed and screened.FLNC mutations were then confirmed by Sanger sequencing performed on probands and their available relatives.Clinical information of the probands and their relatives was collected.Results In all probands,6 FLNC variants were detected,which were all new variants that had not been published.One case was familial DCM,and the rest were sporadic cases.All of them were missense variants in HCM patients and truncated variants in DCM patients.Conclusion Various types of FLNC variants participate in different cardiomyopathy through different mechanisms.This study preliminarily summarized the correlation of different variation and phenotypes,and expanded the variant spectrum of FLNC in Chinese Han patients with cardiomyopathy.

关 键 词：细丝蛋白C(FLNC) 变异 肥厚型心肌病(HCM) 扩张型心肌病(DCM) 表型 

分 类 号：R542.2[医药卫生—心血管疾病]