EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.

ABSTRACT:

Objective

The study was undertaken to identify a monogenic cause of early onset, generalized dystonia.

Methods

Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, and protein expression studies in skin fibroblasts from patients.

Results

We identified a heterozygous variant, c.388G>A, p.Gly130Arg, in the eukaryotic translation initiation factor 2 alpha kinase 2 (EIF2AK2) gene, segregating with early onset isolated generalized dystonia in 5 patients of a Taiwanese family. EIF2AK2 sequencing in 191 unrelated patients with unexplained dystonia yielded 2 unrelated Caucasian patients with an identical heterozygous c.388G>A, p.Gly130Arg variant, occurring de novo in one case, ano

SUBMITTER: Kuipers DJS 

PROVIDER: S-EPMC7986743 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature