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posted on 19.08.2020, 17:40 by Wei-Chih Huang, Hsin-Tzu Huang, Po-Yuan Chen, Wei-Chi Wang, Tai-Ming Ko, Sirjana Shrestha, Chi-Dung Yang, Chun-San Tai, Men-Yee Chiew, Yu-Pao Chou, Yu-Feng Hu, Hsien-Da Huang

The number of variants (A) in different reported classifications or (B) in different inherited CDs causing non-ischemic SCD. (A) A total of 1,239 variants located in the CDS of 12 key genes associated with five types of inherited CD (HCM, ARVC, LQTS, BrS and CPVT) were curated. Variants of uncertain significance accounted for 64.4% of curated variations. Pathogenic and likely-pathogenic variants were 13.3% and 19.9%, respectively. A high proportion of pathogenic variants was observed in MYBPC3. (B) In HCM, a high proportion of non-ischemic SCD-associated variants of MYBPC3 and MYH7 was observed and some variants of SCN5A and RYR2 were shown. In ARVC, variants of PKP2 and DSP accounted for high proportion. In LQTS, most non-ischemic SCD-associated variants were derived from KCNQ1, KCNH2 and SCN5A. In BrS, variants of SCN5A accounted for the majority. In CPVT, the majority of non-ischemic SCD-variants belonged to RYR2. HCM: Hypertrophic cardiomyopathy; ARVC: Arrhythmogenic right ventricular cardiomyopathy; LQTS: Long QT syndrome; BrS: Brugada syndrome; CPVT: Catecholaminergic polymorphic ventricular tachycardia.