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 

机构地区：[1]Department of Pharmacy,The Second Hospital of Jilin University,Changchun 130000,Jilin Province,China [2]Department of Cardiovascular Medicine,The Second Hospital of Jilin University,Changchun 130000,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2023年第11期2412-2422,共11页世界临床病例杂志

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

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

关 键 词：Dilated cardiomyopathy Gene mutation Whole exomes sequencing Sanger sequencing ANK2p.F3067L Potentially pathogenic gene 

分 类 号：R542.2[医药卫生—心血管疾病]