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

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.

SUBMITTER: Imai T 

PROVIDER: S-EPMC11362149 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature