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威尔逊病 (新型ATP7B变体) 与同时发生的FLNC相关心肌病

Takeshi Imai¹, Satomi Mitsuhashi², Kenji Isahaya²

¹Department of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan. t2imai@marianna-u.ac.jp.

Human genome variation

|August 29, 2024

概括

整个基因组测序确定了罕见的化合物异质合体ATP7B变体和一个FLNC变体在威尔逊病例的扩张性心肌病. 这突显了WGS在诊断遗传疾病中的实用性.

科学领域:

遗传学遗传学是一个
心脏病学心脏病学
罕见疾病罕见疾病

背景情况:

威尔逊病 (WD) 是一种罕见的铜代谢遗传疾病.
扩展性心肌病变可能是威尔逊病的罕见表现.
遗传诊断WD通常涉及识别ATP7B基因中的致病变体.

研究的目的:

报告一个独特的威尔逊病例,呈现出扩张性心肌病变.
通过全基因组测序来研究这种共同发生的遗传基础.
强调在复杂遗传病例中全基因组测序的诊断价值.

主要方法:

在患者身上进行了全基因组测序 (WGS).
分析的重点是识别ATP7B和FLNC基因中的致病变体.
临床数据和遗传发现是相关的.

主要成果:

该研究在ATP7B基因中发现了两种新型化合物异构性致病变体 (NM_001005918.3:c.2250del/p.N751Tfs*9和c.3496C>T/p.L1166F).
在FLNC基因中还检测到了一种已知的致病变体.
这些发现为WD和扩张性心肌病在这个患者的同时发生提供了遗传解释.

结论:

全基因组测序成功地在患有威尔逊病和扩展性心肌病的患者中发现了复杂的遗传变异.
新型ATP7B变种和FLNC变种的同时出现为病变发生提供了洞察力.
这一案例证明了WGS在诊断具有非典型表现的甚至具有良好特征的遗传疾病方面的力量.

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