SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.

ABSTRACT:

Objective

Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated patients with mutations in PRDX3. We explored the impact of PRDX3 mutation in patient skin fibroblasts and the role of the gene in neurodevelopment.

Methods

We performed trio exome sequencing that identified mutations in PRDX3 in two unrelated patients. We also performed functional studies in patient skin fibroblasts and generated a "crispant" zebrafish (Danio rerio) model to investigate the role of the gene during nervous system development.

Results

Our study reports two additional patients. Patient 1 is a 19-year-old male who showed a n

SUBMITTER: Naef V 

PROVIDER: S-EPMC11251466 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature