Human Genome Variation (Aug 2024)

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

  • Takeshi Imai,
  • Satomi Mitsuhashi,
  • Kenji Isahaya,
  • Soichiro Shibata,
  • Yosuke Kawai,
  • Yosuke Omae,
  • Katsushi Tokunaga,
  • NCBN Controls WGS Consortium,
  • Yoshihisa Yamano

DOI
https://doi.org/10.1038/s41439-024-00283-y
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 4

Abstract

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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.