Article
A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.
Molecular genetics & genomic medicine - 1 Aug 2023
Li Chang, Wen Ya, Zhao Mengqiu, Wang Yaye, Li Ping, Wang Liang, Wang Shan
Abstract excerpt
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...
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