Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.

ABSTRACT: Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained the spectrum and frequency of SORD variants among a large cohort of Czech patients with unknown cause of HN. Exome sequencing data were analysed for SORD (58 patients). The prevalent c.757del variant was tested with fragment analysis (931 patients). Sanger sequencing in additional 70 patients was done. PCR primers were designed to amplify the SORD gene with the exclusion of the pseudogene SORD2P. Sequence differences between gene and pseudogene were identified and frequencies of SNPs were calculated. Eighteen patients from 16 unrelated families with biallelic variants in the SORD gene were found and the c.757del was present in all patients on at least one allele. Th

SUBMITTER: Lassuthova P 

PROVIDER: S-EPMC8055917 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature