Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.

ABSTRACT:

Objective

Leukodystrophies are a diverse group of rare inherited disorders that affect the white matter of the central nervous system with a wide phenotypic spectrum. We aimed to characterize the clinical and genetic features of leukodystrophies in a central-southern Chinese cohort.

Methods

A cohort of 16 Chinese probands with leukodystrophy was recruited and performed genetic analysis by targeted panels or whole-exome sequencing. Further functional analysis of identified mutations in the colony stimulating factor 1 receptor (CSF1R) gene was explored.

Results

A total of eight pathogenic variants (3 novel, 5 documented) were identified in genes including AARS2, ABCD1, CSF1R, and GALC. Common symptoms of leukodystrophy such as cognitive decline, behavioral symptoms, bra

SUBMITTER: Li Y 

PROVIDER: S-EPMC10502626 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature