A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.

ABSTRACT:

Background

Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII-complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several individuals from Belgium, France, the United States, and Türkiye. In the Chinese population, cases of CHMP2B variant-associated FTD have never been reported.

Methods

The spectrum of clinical symptoms and the genetic analysis of the presented patient were identified and investigated. Besides this case, we assessed previously reported cases with CHMP2B gene mutations.

Results

This study presents a Chinese patient harboring a novel heterozygous A-to-T variant (NM_014043:c.532-2A>T) in CHM

SUBMITTER: Li C 

PROVIDER: S-EPMC10422061 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature