Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.

The inosine monophosphate dehydrogenase gene (IMPDH2) was recently reported as a novel gene associated with autosomal dominantly inherited dystonia. We investigated 245 Taiwanese patients with molecularly unassigned isolated or combined dystonia without features of neurodevelopmental disorders and found none had pathogenic variants. Our findings suggest that IMPDH2 may not play a major role in dystonia. • No pathogenic variants of IMPDH2 were identified in Taiwanese dystonia patients. • The IMPDH2 gene may not play a major role in dystonia in our population. • Future IMPDH2 screening in dystonia with neurodevelopmental disorders is needed. [ABSTRACT FROM AUTHOR]