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

Autor:	Imai, Takeshi, Mitsuhashi, Satomi, Isahaya, Kenji, Shibata, Soichiro, Kawai, Yosuke, Omae, Yosuke, Tokunaga, Katsushi, Ishibashi-Ueda, Hatsue, Tomita, Tsutomu, Noguchi, Michio, Takahashi, Ayako, Goto, Yu-ichi, Yoshida, Sumiko, Hattori, Kotaro, Matsumura, Ryo, Iida, Aritoshi, Maruoka, Yutaka, Gatanaga, Hiroyuki, Shimomura, Akihiko, Sugiyama, Masaya
Předmět:	WHOLE genome sequencing DILATED cardiomyopathy GENETIC disorders GENETIC disorder diagnosis CARDIOMYOPATHIES
Zdroj:	Human Genome Variation; 8/29/2024, Vol. 11 Issue 1, p1-4, 4p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Full text from SpringerLink