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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.

DOI:10.1038/s41439-024-00283-y
PMID:39209822
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11362149/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0beb/11362149/7a41a1bf669e/41439_2024_283_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0beb/11362149/5490a6f63924/41439_2024_283_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0beb/11362149/7a41a1bf669e/41439_2024_283_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0beb/11362149/5490a6f63924/41439_2024_283_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0beb/11362149/7a41a1bf669e/41439_2024_283_Fig2_HTML.jpg

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本文引用的文献

1
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.一位年轻的栓塞性脑卒中伴内脏转位患者的新型 NODAL 变异。
BMC Neurol. 2024 Apr 11;24(1):119. doi: 10.1186/s12883-024-03619-x.
2
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.威尔逊病的管理视角：早期诊断和个体化治疗。
Curr Neuropharmacol. 2021;19(4):465-485. doi: 10.2174/1570159X18666200429233517.
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Cardiac assessment in Wilson's disease patients based on electrocardiography and echocardiography examination.
基于心电图和超声心动图检查的肝豆状核变性患者心脏评估
Arch Med Sci. 2019 Jul;15(4):857-864. doi: 10.5114/aoms.2017.69728. Epub 2017 Sep 7.
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Cardiac Manifestation of Wilson's Disease.肝豆状核变性的心脏表现
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5
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Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.威尔逊病：巴西患者ATP7B基因的新突变及临床相关性
Hum Mutat. 2004 Apr;23(4):398. doi: 10.1002/humu.9227.
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Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.中国肝豆状核变性患者ATP7B基因型与表型的相关性
World J Gastroenterol. 2004 Feb 15;10(4):590-3. doi: 10.3748/wjg.v10.i4.590.
8
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.威尔逊氏病基因是一种假定的铜转运P型ATP酶，与门克斯基因相似。
Nat Genet. 1993 Dec;5(4):327-37. doi: 10.1038/ng1293-327.