title: CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
abstract: It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.
authors.affiliation: Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
authors.forename: Ashley
authors.initials: A
authors.lastname: Cannon
authors.forename: Matthew
authors.initials: M
authors.lastname: Baker
authors.forename: Brad
authors.initials: B
authors.lastname: Boeve
authors.forename: Keith
authors.initials: K
authors.lastname: Josephs
authors.forename: David
authors.initials: D
authors.lastname: Knopman
authors.forename: Ron
authors.initials: R
authors.lastname: Petersen
authors.forename: Joseph
authors.initials: J
authors.lastname: Parisi
authors.forename: Dennis
authors.initials: D
authors.lastname: Dickison
authors.forename: Jennifer
authors.initials: J
authors.lastname: Adamson
authors.forename: Julie
authors.initials: J
authors.lastname: Snowden
authors.forename: David
authors.initials: D
authors.lastname: Neary
authors.forename: David
authors.initials: D
authors.lastname: Mann
authors.forename: Mike
authors.initials: M
authors.lastname: Hutton
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
mesh_terms: D003704:Dementia / Q000235:genetics*; D003718:Denmark; D056827:Endosomal Sorting Complexes Required for Transport; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins