威尔逊病（新型 ATP7B 变异）并发 FLNC 相关心肌病。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-08-29 DOI:10.1038/s41439-024-00283-y

Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Yoshihisa Yamano

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摘要

我们报告了一例威尔逊病（WD）并发扩张型心肌病的病例，在该病例中，全基因组测序（WGS）发现了两个罕见的复合杂合子 ATP7B 致病变体（NM_001005918.3:c.2250del/p.N751Tfs*9 和 c.3496C>T/p.L1166F）和一个已知的 FLNC 致病变体同时存在。我们的研究结果突显了 WGS 的实用性，即使在诊断 WD 等特征明确的遗传疾病时也是如此。

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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

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.

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