CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
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.
Cannon
Ashley
A
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Baker
Matthew
M
Boeve
Brad
B
Josephs
Keith
K
Knopman
David
D
Petersen
Ron
R
Parisi
Joseph
J
Dickison
Dennis
D
Adamson
Jennifer
J
Snowden
Julie
J
Neary
David
D
Mann
David
D
Hutton
Mike
M
Pickering-Brown
Stuart M
SM
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*
C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins