Xiao Jiao, Dong Yi, Jin Jieyuan, Yuan Zhuangzhuang, Wang Chenyu, Xiang Rong, Guo Yadong
Department of Forensic Science, School of Basic Medical Sciences, Central South University, Changsha, China.
Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.
Gene. 2024 Apr 15;902:148193. doi: 10.1016/j.gene.2024.148193. Epub 2024 Jan 20.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rare autosomal dominant genetic disorder that leads to severe arrhythmia and sudden cardiac death. Although previous studies in clinical, pathological and genetics of ARVC established consensus diagnostic criteria and expanded the spectrum of pathogenic genes, there is still a proportion of patients with unclear causative factors. Here, whole-exome sequencing was employed to investigate the genetic etiology of a 15-year-old sudden cardiac death female caused by ARVC. A novel variant of MYOF (NM_013451.3: c.4723G > C: p.D1575H) was identified, which is a member of the Ferlin family of proteins is associated with cardiomyopathy. And the bioinformatics analysis predicted the pathogenicity of this variant. We report the first variant of MYOF in ARVC, which imply a vital role of MYOF in cardiomyopathy.
致心律失常性右室心肌病（ARVC）是一种罕见的常染色体显性遗传病，可导致严重心律失常和心源性猝死。尽管先前关于ARVC临床、病理和遗传学的研究确立了共识诊断标准并扩大了致病基因谱，但仍有一部分患者的病因不明。在此，采用全外显子组测序来研究一名15岁因ARVC导致心源性猝死女性的遗传病因。鉴定出一种新的MYOF变异（NM_013451.3: c.4723G > C: p.D1575H），它是与心肌病相关的Ferlin蛋白家族成员。并且生物信息学分析预测了该变异的致病性。我们报道了ARVC中首个MYOF变异，这暗示了MYOF在心肌病中起重要作用。
