A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G & gt;T at the intron 9/exon 10 of the MAPT gene

This report of a second family with FTDP-17 associated with c.823-10G>T MAPT variant strongly supports pathogenicity of the variant and confirms it is a 4-repeat (4R) tauopathy. This intronic point mutation, probably strengthens the polypyrimidine tract and alters the splicing of exon 10 (10 nucleotides into intron 9) close to the 3' splice site.PMID:34274155 | DOI:10.1016/j.neurobiolaging.2021.05.010

Source: Neurobiology of Aging - July 18, 2021 Category: Geriatrics Authors: Diana A Olszewska Conor Fearon Christopher McGuigan Terri P McVeigh Henry Houlden James M Polke Brian Lawlor Robert Coen Michael Hutchinson Michael Hutton Alan Beausang Isabelle Delon Francesca Brett Ioanna Sevastou Nuria Seto-Salvia Rohan de Silva Tim Ly Source Type: research