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

**Authors:** Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, 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

PMC · DOI: 10.1038/s41439-024-00283-y · Human Genome Variation · 2024-08-29

## TL;DR

This paper reports a rare case where Wilson disease and a heart condition co-occur due to specific genetic mutations.

## Contribution

The study identifies novel ATP7B variants and their co-occurrence with a known FLNC variant in a single patient.

## Key findings

- Whole-genome sequencing revealed two novel ATP7B pathogenic variants in a Wilson disease case.
- The patient also carried a known FLNC pathogenic variant linked to cardiomyopathy.
- The case highlights the value of WGS in diagnosing complex genetic conditions.

## 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.

## Linked entities

- **Genes:** ATP7B (ATPase copper transporting beta) [NCBI Gene 540], FLNC (filamin C) [NCBI Gene 2318]
- **Diseases:** Wilson disease (MONDO:0010200), dilated cardiomyopathy (MONDO:0005021)

## Full-text entities

- **Genes:** ATP7B (ATPase copper transporting beta) [NCBI Gene 540] {aka PWD, WC1, WD, WND}, FLNC (filamin C) [NCBI Gene 2318] {aka ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMD1PP}
- **Diseases:** dilated cardiomyopathy (MESH:D002311), cardiomyopathy (MESH:D009202), genetic diseases (MESH:D030342), WD (MESH:D006527)
- **Mutations:** p.N751Tfs*9, c.2250del, c.3496C>T

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11362149/full.md

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Source: https://tomesphere.com/paper/PMC11362149