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

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

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...

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Veröffentlicht in:Human genome variation 2024-08, Vol.11 (1), p.34-4, Article 34
Hauptverfasser: Imai, Takeshi, Mitsuhashi, Satomi, Isahaya, Kenji, Shibata, Soichiro, Kawai, Yosuke, Omae, Yosuke, Tokunaga, Katsushi, Yamano, Yoshihisa
Format: Artikel
Sprache:eng
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631/208/2489/1512
631/378/2583
Age
Biomedical and Life Sciences
Biomedicine
Cardiomyopathy
Case reports
Copper
Data Report
Dilated cardiomyopathy
Disease
Ejection fraction
Family medical history
Gene Expression
Gene Function
Gene Therapy
Genetic disorders
Genetic testing
Genomes
Genomics
Human Genetics
Molecular Medicine
Patients
Proteins
Whole genome sequencing
Wilson's disease
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Beschreibung
Zusammenfassung: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-024-00283-y