Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

ABSTRACT:

Background

Our study aims to evaluate the genetic and phenotypic spectrum of Frontotemporal dementia (FTD) gene variant carriers in Chinese populations, investigate mutation frequencies, and assess the functional properties of TBK1 and OPTN variants.

Methods

Clinically diagnosed FTD patients underwent genetic analysis through exome sequencing, repeat-primed polymerase chain reaction, and Sanger sequencing. TBK1 and OPTN variants were biologically characterized in vitro using immunofluorescence, immunoprecipitation, and immunoblotting analysis. The frequencies of genes implicated in FTD in China were analyzed through a literature review and meta-analysis.

Results

Of the 261 Chinese FTD patients, 61 (23.4%) carried potential causative variants in FTD-related genes, incl

SUBMITTER: Nan H 

PROVIDER: S-EPMC11170894 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature