RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

ABSTRACT: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive, generally late-onset, neurological disorder associated with biallelic pentanucleotide expansions in Intron 2 of the RFC1 gene. The locus exhibits substantial genetic variability, with multiple pathogenic and benign pentanucleotide repeat alleles previously identified. To determine the contribution of pathogenic RFC1 expansions to neurological disease within an Australasian cohort and further investigate the heterogeneity exhibited at the locus, a combination of flanking and repeat-primed PCR was used to screen a cohort of 242 Australasian patients with neurological disease. Patients whose data indicated large gaps within expanded alleles following repeat-primed PCR, underwent targeted long-read

SUBMITTER: Scriba CK 

PROVIDER: S-EPMC10445415 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature