A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.

ABSTRACT:

Objective

Hereditary spastic paraplegia (HSP) has been reported rarely because of a monoallelic variant in ERLIN2. The present study aimed at describing a novel autosomal dominant ERLIN2 pedigree in a Chinese family and exploring the possible mechanism of HSP caused by ERLIN2 variants.

Methods

The proband and his family underwent a comprehensive medical history inquiry and neurological examinations. Whole-exome sequencing was performed on the proband, and Sanger sequencing was performed on some family members. HeLa cell lines and mouse primary cortical neurons were used for immunofluorescence (IF) and reverse transcription-PCR (RT-PCR).

Results

Seven patients were clinically diagnosed with pure spastic paraplegia in four consecutive generations with the autosomal domi

SUBMITTER: Wang J 

PROVIDER: S-EPMC10646992 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature