Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.

ABSTRACT: GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing. Functional characterization of the Gαolf protein variant was performed using the bioluminescence resonance energy transfer assay. A novel heterozygous nonsynonymous variant (p. F133L) was identified in a patient with cervical and laryngeal dystonia since the third decade of life, with no family history. This variant was not identified in healthy Brazilian controls and was not described in 63,000 exomas of the ExAC database. The F133L mutant exhibi

SUBMITTER: Dos Santos CO 

PROVIDER: S-EPMC4828253 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature