伴有FLNC相关心肌病的威尔逊病（新型ATP7B变体）
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
作者信息
Imai Takeshi, Mitsuhashi Satomi, Isahaya Kenji, Shibata Soichiro, Kawai Yosuke, Omae Yosuke, Tokunaga Katsushi, Yamano Yoshihisa
机构信息
Department of Neurology, St Marianna University School of Medicine, Kawasaki, Kanagawa, Japan.
Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
出版信息
Hum Genome Var. 2024 Aug 29;11(1):34. doi: 10.1038/s41439-024-00283-y.
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) and a known FLNC pathogenic variant. Our results highlight the usefulness of WGS, even in the diagnosis of well-characterized genetic diseases such as WD.
我们报告了一例患有扩张型心肌病的威尔逊病（WD）病例，其中全基因组测序（WGS）显示罕见地同时出现了两个新的复合杂合ATP7B致病变体（NM_001005918.3:c.2250del/p.N751Tfs*9和c.3496C>T/p.L1166F）以及一个已知的FLNC致病变体。我们的结果强调了WGS的实用性，即使在诊断像WD这样特征明确的遗传疾病时也是如此。
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