Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.

ABSTRACT:

Objective

Mutations in the colony-stimulating factor 1 receptor gene (CSF1R) were identified as a cause of adult-onset inherited leukoencephalopathy. The present study aims at investigating the frequency, clinical characteristics, and functional effects of CSF1R mutations in Taiwanese patients with adult-onset leukoencephalopathy.

Methods

Mutational analysis of CSF1R was performed in 149 unrelated individuals with leukoencephalopathy by a targeted resequencing panel covering the entire coding regions of CSF1R. In vitro analysis of the CSF1-induced autophosphorylation activities of mutant CSF1R proteins was conducted to assess the pathogenicity of the CSF1R mutations.

Results

Among the eight CSF1R variants identified in this study, five mutations led to a loss of CSF1-

SUBMITTER: Tsai PC 

PROVIDER: S-EPMC8607455 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature