Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

被引：637

作者：

Skibinski, G

Parkinson, NJ

Brown, JM

Chakrabarti, L

Lloyd, SL

Hummerich, H

Nielsen, JE

Hodges, JR

Spillantini, MG

Thusgaard, T

Brandner, S

Brun, A

Rossor, MN

Gade, A

Johannsen, P

Sorensen, SA

Gydesen, S

Fisher, EMC ^{[1
]}

Collinge, J

机构：

[1] UCL, Inst Neurol, Dept Neurodegenerat Dis, London WC1E 6BT, England

[2] UCL, Inst Neurol, MRC, Prion Unit, London, England

[3] Addenbrookes Hosp, Dept Neurol, MRC, Cognit & Brain Sci Unit, Cambridge, England

[4] Univ Copenhagen, Panum Inst, Dept Med Biochem & Genet, Neurogenet Sect, DK-1168 Copenhagen, Denmark

[5] Univ Copenhagen Hosp, Rigshosp, Ctr Neurosci, Memory Disorders Res Unit, DK-2100 Copenhagen, Denmark

[6] Univ Cambridge, Dept Clin Neurosci, Ctr Brain Repair, Cambridge, England

[7] Parkvaenget Nursing Home, Holstebro, Denmark

[8] Univ Lund Hosp, Dept Pathol, S-22185 Lund, Sweden

[9] Univ Copenhagen, Rigshosp, Dept Psychol, DK-1168 Copenhagen, Denmark

[10] Cent Hosp, Dept Psychiat, Holbaek, Denmark

来源：

NATURE GENETICS | 2005年 / 37卷 / 08期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng1609

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

收藏

页码：806 / 808

页数：3

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