Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

被引：31

作者：

Millecamps, Stephanie ^{[1
]}

Corcia, Philippe ^{[2
]}

Cazeneuve, Cecile ^{[3
]}

Boillee, Severine ^{[1
]}

Seilhean, Danielle ^{[1
,4
]}

Danel-Brunaud, Veronique ^{[5
]}

Vandenberghe, Nadia ^{[6
]}

Pradat, Pierre-Francois ^{[7
]}

Le Forestier, Nadine ^{[7
]}

Lacomblez, Lucette ^{[7
]}

Bruneteau, Gaelle ^{[7
]}

Camu, William ^{[8
]}

Brice, Alexis ^{[1
,3
]}

Meininger, Vincent ^{[7
]}

LeGuern, Eric ^{[1
,3
]}

Salachas, Francois ^{[7
]}

机构：

[1] Univ Paris 06, Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epineire, Ctr Rech,INSERM,UMR S975,CNRS,UMR7225, Paris, France

[2] Univ Tours, Ctr SLA, CHU Tours, Tours, France

[3] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, Paris, France

[4] Hop La Pitie Salpetriere, AP HP, Dept Neuropathol, Paris, France

[5] CHRU Lille, Hop Roger Salengro, Serv Neurol & Pathol Mouvement, Lille, France

[6] Hop Neurol & Neurochirurg P Wertheimer, Hosp Civils Lyon, Bron, France

[7] Hop La Pitie Salpetriere, APHP, Ctr Reference Malad Rares SLA, Paris, France

[8] Univ Montpellier I, Hop Guy Chauliac, Serv Neurol, Montpellier, France

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 04期

关键词：

Motor neuron disease; Amyotrophic lateral sclerosis; Familial ALS; Genetic analysis; PXX repeat domain; UBQLN2; deletion; HEXANUCLEOTIDE REPEAT; C9ORF72; ALS;

D O I：

10.1016/j.neurobiolaging.2011.11.010

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Mutations in UBQLN2 encoding ubiquilin-2 have recently been identified in families with dominant X-linked juvenile and adult-onset amyotrophic lateral sclerosis (ALS) and ALS/dementia. Ubiquilin-2 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. All the previously reported UBQLN2 mutations were localized in 1 of the 12 PXX domains of ubiquilin-2 protein. We sequenced UBQLN2 in 130 French patients with familial ALS (FALS) and absence of male-to-male transmission and the PXX domain in 240 more patients with sporadic ALS (SALS). We identified, at the heterozygote state, the c.1500_1508delCATAGGCCC, p.Gly502_Ile504del, in 1 affected woman. This deletion presumably leads to the in-frame deletion of 1 PXX repeat in the protein. This variant did not segregate with the disease in the corresponding family and was also detected in 1/380 control subject. Our results suggest that UBQLN2 gene mutations are rare in French ALS. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：839.e1 / 839.e3

页数：3

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