Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.
Skibinski
Gaia
G
MRC Prion Unit, Institute of Neurology, University College London, London, UK.
Parkinson
Nicholas J
NJ
Brown
Jeremy M
JM
Chakrabarti
Lisa
L
Lloyd
Sarah L
SL
Hummerich
Holger
H
Nielsen
Jørgen E
JE
Hodges
John R
JR
Spillantini
Maria Grazia
MG
Thusgaard
Tove
T
Brandner
Sebastian
S
Brun
Arne
A
Rossor
Martin N
MN
Gade
Anders
A
Johannsen
Peter
P
Sørensen
Sven Asger
SA
Gydesen
Susanne
S
Fisher
Elizabeth M C
EM
Collinge
John
J
D003704:Dementia / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing
C503812:CHMP2B protein, human; D056827:Endosomal Sorting Complexes Required for Transport; D009419:Nerve Tissue Proteins