Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy

作     者：Xin-Ru Zhang Hang Ren Fang Yao Yang Liu Chun-Li Song 

作者机构：Department of PharmacyThe Second Hospital of Jilin UniversityChangchun 130000Jilin ProvinceChina Department of Cardiovascular MedicineThe Second Hospital of Jilin UniversityChangchun 130000Jilin ProvinceChina 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2023年第11卷第11期

页      面：2412-2422页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by the Jilin Provincial Healthcare Talent Special Program No.2019SCZT08 

主　　题：Dilated cardiomyopathy Gene mutation Whole exomes sequencing Sanger sequencing ANK2p.F3067L Potentially pathogenic gene 

摘      要：BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile *** substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very *** To identify pathogenic genes in DCM through pedigree *** Our research team identified a patient with DCM in the *** invest-igation,we found that the family of this patient has a typical DCM ***-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the *** A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was *** mutation was completely consistent with the clinical information for this DCM *** sequencing was used to further verify the locus of the mutation in pedigree *** results were consistent with those of high-throughput *** ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.