采用靶向下一代测序技术对中国散发性扩张型心肌病患者进行遗传分析。
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.
机构信息
Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Provincial Key Laboratory of Coronary Heart Disease Prevention, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
出版信息
J Transl Med. 2021 May 3;19(1):189. doi: 10.1186/s12967-021-02832-3.
BACKGROUND
Inherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas the genetic profile of sporadic DCM in Chinese patients remains unknown.
METHODS
Between June 2018 and September 2019, 24 patients diagnosed with idiopathic DCM without a family history were included in the present study. All patients underwent genetic screening for 80 DCM-related genes using targeted next-generation sequencing.
RESULTS
By in silico analysis, 10 of 99 detected variants were considered pathogenic or likely-pathogenic, including seven TTN truncating variants (TTNtv), one in-frame deletion in TNNT2, one missense mutation in RBM20, and one frameshift deletion variant in FLNC. Of these variants, eight are reported for the first time.
CONCLUSIONS
Using targeted next-generation sequencing, potential genetic causes of idiopathic DCM were identified. Sarcomere mutations remained the most common genetic cause of inherited DCM in this cohort of sporadic Chinese DCM.
背景
遗传性扩张型心肌病（DCM）约占特发性 DCM 病例的 25%，在家族性 DCM 患者中比例更高。大多数研究都集中在家族性 DCM 上，而中国散发性 DCM 患者的遗传特征尚不清楚。
方法
本研究纳入了 2018 年 6 月至 2019 年 9 月期间诊断为无家族史的特发性 DCM 的 24 例患者。所有患者均采用靶向下一代测序技术对 80 个 DCM 相关基因进行了基因筛查。
结果
通过计算机分析，在检测到的 99 个变异中，有 10 个被认为是致病性或可能致病性的，包括 7 个 TTN 截断变异（TTNtv）、1 个 TNNT2 框内缺失、1 个 RBM20 错义突变和 1 个 FLNC 移码缺失变异。其中 8 个是首次报道。
结论
本研究通过靶向下一代测序技术，鉴定了特发性 DCM 的潜在遗传病因。在本研究的散发性中国 DCM 患者队列中，肌节突变仍然是遗传性 DCM 的最常见遗传病因。
Zotero 插件