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.
Authors
- Hatsue Ishibashi-Ueda
- Ryo Matsumura (ORCID: https://orcid.org/0000-0002-6233-1206)
- Soichiro Shibata
- Michio Noguchi
- Eisei Noiri (ORCID: https://orcid.org/0000-0002-9515-7582)
- Yosuke Kawai (ORCID: https://orcid.org/0000-0003-0666-1224)
- Akihiko Shimomura (ORCID: https://orcid.org/0000-0002-2557-8170)
- Haruhiko Tokuda
- Hideyuki Shimanuki
- Satoshi Suzuki (ORCID: https://orcid.org/0000-0002-8172-2413)
- Kengo Miyo (ORCID: https://orcid.org/0000-0001-6111-3154)
- Akihiro Umezawa (ORCID: https://orcid.org/0000-0002-0485-6653)
- Hiroyuki Gatanaga (ORCID: https://orcid.org/0000-0001-9191-9984)
- Hiroshi Watanabe (ORCID: https://orcid.org/0000-0001-7620-1894)
- Ayako Takahashi (ORCID: https://orcid.org/0000-0001-7603-9954)
- Tadashi Kaname (ORCID: https://orcid.org/0000-0003-0281-9610)
- Katsushi Tokunaga (ORCID: https://orcid.org/0000-0001-5501-0503)
- Yutaka Maruoka
- Koji Kitajima
- Masaya Sugiyama (ORCID: https://orcid.org/0000-0002-9084-7197)
- Kouichi Ozaki (ORCID: https://orcid.org/0000-0003-0028-1570)
- Kotaro Hattori (ORCID: https://orcid.org/0000-0002-4411-2317)
- Sumiko Yoshida (ORCID: https://orcid.org/0000-0002-1751-3641)
- Takeshi Imai (ORCID: https://orcid.org/0000-0001-9905-820X)
- Yoshihisa Yamano (ORCID: https://orcid.org/0000-0001-7527-0345)
- Satomi Mitsuhashi (ORCID: https://orcid.org/0000-0002-5036-6858)
- Kenichiro Hata (ORCID: https://orcid.org/0000-0002-7809-7637)
- Reiko Miyahara (ORCID: https://orcid.org/0000-0003-1998-505X)
- Shumpei Niida (ORCID: https://orcid.org/0000-0002-6192-8035)
- Aritoshi Iida (ORCID: https://orcid.org/0000-0001-7538-1651)
- Kenji Isahaya
- Yosuke Omae
- Yoichi Matsubara (ORCID: https://orcid.org/0000-0001-5990-8214)
- Tsutomu Tomita (ORCID: https://orcid.org/0000-0001-5753-4255)
- Yu-ichi Goto
Institutions
- St. Marianna University School of Medicine (JP)
- National Center for Global Health and Medicine (JP)
- BioBank Japan (JP)
- National Center of Neurology and Psychiatry (JP)
- National Cerebral and Cardiovascular Center (JP)
- National Center For Child Health and Development (JP)
- National Center for Geriatrics and Gerontology (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1038/s41439-024-00283-y
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science
- Institute of Genetics