Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.

ABSTRACT:

Objective

TFG mutations have previously been implicated in autosomal recessive hereditary spastic paraplegia (HSP), also known as SPG57. This study aimed to investigate the clinical and molecular features of TFG mutations in a Taiwanese HSP cohort.

Methods

Genetic analysis of TFG was conducted in 242 unrelated Taiwanese HSP patients using a targeted resequencing panel covering the entire coding regions of TFG. Functional assays were performed using an in vitro cell model to assess the impact of TFG variants on protein function. Additionally, other representative TFG mutant proteins were examined to understand the broader implications of TFG mutations in HSP.

Results

The study identified a novel homozygous TFG c.177A>C (p.(Lys59Asn)) variant in a family with adolescent

SUBMITTER: Hsiao CT 

PROVIDER: S-EPMC11251477 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature