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一个MYH7变体在一个五代家族中,患有多变性心肌病变性

Magda Franke¹, Tomasz Marcin Książczyk², Marta Dux³

¹Department of Pediatric Cardiology and General Pediatrics, Doctoral School, Medical University of Warsaw, Warsaw, Poland.

Frontiers in genetics

|February 23, 2024

概括

一种新型的MYH7基因变异在一家五代人中引起了多变性心肌病 (HCM). 这种基因突变导致广泛的疾病严重程度,包括突然心脏病死亡.

科学领域:

心血管遗传学心血管遗传学
分子心脏病学分子心脏病学

背景情况:

增高性心肌病变 (HCM) 是一种普遍的遗传性心脏病,影响1:500-1:3000个人.
瘤蛋白基因变异,特别是在MYH7和MYPBC3中,是HCM的主要原因.
HCM的临床表现表现出显著的个体间变异性.

研究的目的:

在一个五代家族中识别和鉴定MYH7基因变异,负责HCM.
在一个大型的,多代队列中调查HCM的遗传基础和临床谱.

主要方法:

使用欧洲心脏病学会的标准通过心声学或心血管磁共振证实了HCM的诊断.
基因分析采用下一代测序和桑格测序来检测变异.
五代人精心记录的家族史,记录了心脏事件和干预.

主要成果:

在10名受影响的家庭成员中发现了MYH7基因中的异合体NM_000257.4:c.2342T>A (p.Leu781Gln) 变异.
这种变异在五代人中与HCM分离,与心脏突然死亡,心脏移植,隔膜肌切除和ICD植入病史相关.
观察到广泛的临床谱系,10名受影响个体中有8名表现严重,2名表现轻微的表型.

结论:

一种MYH7基因变异被证实是该家族中HCM的原因.
这项研究支持了家族性HCM典型的自体主导遗传模式.
在HCM中,疾病的严重程度可能会受到主要MYH7变异以外的其他遗传因素的影响.

关键词:

在HCM中,HCM是指HCM.在MYH7中,MYH7是MYH7.过度缩性心肌病变性心脏病.这是下一代测序.变种变种变种变种变种

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