NeurogeneticsAdultHumansMaleActinsDeafness
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, Stéphane Bézieau, Philippe Bordure, Florent Espitalier, Irina Viakhireva-Dovganyuk, Alain Verloes, Marie-Laure Vuillaume, Salim Khiati, Vincent Procaccio, Sandra Mercier
Published: 202610.1007/s10048-025-00875-y
Abstract
Dystonia-deafness syndrome 1 (DDS1) is a rare disorder caused by the p.(Arg183Trp) heterozygous variant in ACTB. Patients present with congenital/early-onset sensorineural deafness, then childhood/adult-onset generalized dystonia. We describe a 38 y.…
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