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在非相关的越南心肌病患者中发现了三种新型致病变体

Dac Dai Tran¹, Nguyen Thi Kim Lien², Nguyen Van Tung^2,3

¹E Hospital, Ministry of Health, 89 Tran Cung Str., Cau Giay, Hanoi 100000, Vietnam.

Diagnostics (Basel, Switzerland)

|December 17, 2024

概括

对越南家庭的基因分析发现了9种变异,其中包括3种新型变异,导致扩张性心肌病 (DCM). 这促进了对遗传性心肌病的理解,以更好地诊断和治疗.

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
基因组医学是基因组医学.

背景情况:

心肌病,包括扩张性心肌病 (DCM) 和缩性心肌病 (HCM),是心力衰竭的主要原因,也是心脏移植的主要原因.
遗传因素占心肌病病例的20-50%,强调需要了解遗传基础.
遗传洞察对于疾病的发病,诊断,治疗,预防和家庭遗传咨询至关重要.

研究的目的:

在越南患者中识别与心肌病相关的遗传变异.
了解遗传突变在心肌病变的发病过程中的作用.
为改善受影响家庭的诊断,治疗和遗传咨询提供基础.

主要方法:

收集了来自越南家庭的9名患者的样本,他们被诊断患有心肌病.
进行全外因子测序 (WES) 来检测遗传变异.
使用桑格测序验证了已识别的变异,并使用in silico工具预测了它们的致病性.

主要成果:

确定了九种导致患者疾病的异合体变异.
发现了三种新型变异 (在MYL2,MYH7,DES基因中) 和两种致病变异 (在MYH7,PTPN11基因中).
在ACTA2,ANK2,MYOZ2和PRKAG2基因中发现了四种不确定意义的变异;在分析中证实了DCM的致病性.

结论:

该研究确定了导致越南患者心肌病的关键遗传变异.
这些发现增强了对心肌病病因的理解.
结果支持改善遗传诊断,向治疗,预防策略和家庭遗传咨询.

关键词:

越南患者中的越南患者.心肌病性心脏病 - 心肌病性心脏病扩张性心肌病 (DCM) 是一种超性心肌病变 (HCM) 是一种病原性变体的病原性变体整体外因子测序 (WES) 是一种全外因子测序.

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