A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia

Abstrakt

Recently, heterozygous mutations in the VPS16 (vacuolar protein sorting 16 homolog) gene linked to early-onset dystonia were identified among patients of European ancestry. Here, we report on the identification of a recurrent heterozygous loss-of-function variant in VPS16 in four independent patients of European descent with progressive early-onset dystonia with phenotypic characteristics resembling the original description.

Klíčová slova

• heterozygous mutations
• VPS16 (vacuolar protein sorting 16 homolog) gene
• early-onset dystonia