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

ConclusionThis is the first case ofCHMP2B variant-associated FTD reported in the Chinese population. The novel c.532-2A>T variant in the acceptor splice site of exon 6 retaining intron 5 was predicted to cause truncated protein and protein conformation changes. This discovery may expand the genetic and phenotypic spectrum ofCHMP2B variant-associated FTD.

Source: Molecular Genetics & Genomic Medicine - June 5, 2023 Category: Genetics & Stem Cells Authors: Chang Li, Ya Wen, Mengqiu Zhao, Yaye Wang, Ping Li, Liang Wang, Shan Wang Tags: CLINICAL REPORT Source Type: research