Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
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Published:2024-08-29
Issue:1
Volume:11
Page:
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ISSN:2054-345X
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Container-title:Human Genome Variation
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language:en
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Short-container-title:Hum Genome Var
Author:
Imai TakeshiORCID, Mitsuhashi Satomi, Isahaya Kenji, Shibata Soichiro, Kawai YosukeORCID, 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, Suzuki Satoshi, Miyo Kengo, Matsubara Yoichi, Umezawa Akihiro, Hata Kenichiro, Kaname Tadashi, Ozaki Kouichi, Tokuda Haruhiko, Watanabe Hiroshi, Niida Shumpei, Noiri Eisei, Kitajima Koji, Omae Yosuke, Miyahara Reiko, Shimanuki Hideyuki, Kawai Yosuke, Tokunaga Katsushi, Yamano Yoshihisa
Abstract
AbstractWe 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.
Publisher
Springer Science and Business Media LLC
Reference8 articles.
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