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- Title
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
- Authors
Imai, Takeshi; Mitsuhashi, Satomi; Isahaya, Kenji; Shibata, Soichiro; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Ishibashi-Ueda, Hatsue; Tomita, Tsutomu; Noguchi, Michio; Takahashi, Ayako; Goto, Yu-ichi; Yoshida, Sumiko; Hattori, Kotaro; Matsumura, Ryo; Iida, Aritoshi; Maruoka, Yutaka; Gatanaga, Hiroyuki; Shimomura, Akihiko; Sugiyama, Masaya
- 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.
- Subjects
WHOLE genome sequencing; DILATED cardiomyopathy; GENETIC disorders; GENETIC disorder diagnosis; CARDIOMYOPATHIES
- Publication
Human Genome Variation, 2024, Vol 11, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-024-00283-y