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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2024年8月29日

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  • Takeshi Imai,
  • Satomi Mitsuhashi,
  • Kenji Isahaya,
  • Soichiro Shibata,
  • Yosuke Kawai,
  • Yosuke Omae,
  • Katsushi Tokunaga,
  • Hatsue Ishibashi-Ueda,
  • Tsutomu Tomita,
  • Michio Noguchi,
  • Ayako Takahashi,
  • Yu-ichi Goto,
  • Sumiko Yoshida,
  • Kotaro Hattori,
  • Ryo Matsumura,
  • Aritoshi Iida,
  • Yutaka Maruoka,
  • Hiroyuki Gatanaga,
  • Akihiko Shimomura,
  • Masaya Sugiyama,
  • Satoshi Suzuki,
  • Kengo Miyo,
  • Yoichi Matsubara,
  • Akihiro Umezawa,
  • Kenichiro Hata,
  • Tadashi Kaname,
  • Kouichi Ozaki,
  • Haruhiko Tokuda,
  • Hiroshi Watanabe,
  • Shumpei Niida,
  • Eisei Noiri,
  • Koji Kitajima,
  • Yosuke Omae,
  • Reiko Miyahara,
  • Hideyuki Shimanuki,
  • Yosuke Kawai,
  • Katsushi Tokunaga,
  • Yoshihisa Yamano

摘要

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.