RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

ABSTRACT:

Objective

Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1-related disease, and to identify possible genotype-phenotype relationships.

Methods

We performed a multinational cross-sectional survey among 20 patients with biallelic RARS1 variants identified by next-generation sequencing techniques. Clinical data, brain MRI findings and genetic results were analyzed. Additionally, ArgRS activity was measured in fibroblasts of four patients, and translation of long and short ArgRS isoforms was quantified by western blot.

Results

Clinical presentation ranged from severe (onset in the first 3

SUBMITTER: Mendes MI 

PROVIDER: S-EPMC6952319 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature