Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

被引：1301

作者：

Jamain, S

Quach, H

Betancur, C

Råstam, M

Colineaux, C

Gillberg, IC

Soderstrom, H

Giros, B

Leboyer, M

Gillberg, C

Bourgeron, T ^{[1
]}

Gillberg, C

Råstam, M

Gillberg, C

Nydén, A

Söderström, H

Leboyer, M

Betancur, C

Philippe, A

Giros, B

Colineaux, C

Cohen, D

Chabane, N

Mouren-Siméoni, MC

Brice, A

Sponheim, E

Spurkland, I

Skjeldal, OH

Coleman, M

Pearl, PL

Cohen, IL

Tsiouris, J

Zappella, M

Menchetti, G

Pompella, A

Aschauer, H

Van Maldergem, L

机构：

[1] Univ Paris 07, Lab Genet Humaine & Fonct Cognit, INSERM, E0021,Inst Pasteur, F-75015 Paris, France

[2] Univ Paris 12, INSERM, U513, Fac Med, F-94000 Creteil, France

[3] Univ Gothenburg, Dept Child & Adolescent Psychiat, S-41119 Gothenburg, Sweden

[4] Hop Robert Debre, Dept Child & Adolescent Psychiat, F-75019 Paris, France

[5] Hop Albert Chenevier & Henri Mondor, Dept Psychiat, F-94000 Creteil, France

[6] Univ London St Georges Hosp, Sch Med, London 5W17 ORE, England

[7] Gothenburg Univ, Dept Child & Adolescent Psychiat, Gothenburg, Sweden

[8] Hop Albert Chenevier & Henri Mondor, Dept Psychiat, Creteil, France

[9] INSERM, U513, Fac Med, Creteil, France

[10] Hop Robert Debre, Serv Psychopathol Enfant & Adolescent, Paris, France

[11] Hop La Pitie Salpetriere, INSERM, U289, Paris, France

[12] Univ Oslo, Ctr Child & Adolescent Psychiat, Oslo, Norway

[13] Univ Oslo, Rikshosp, Dept Pediat, Oslo, Norway

[14] Georgetown Univ, Sch Med, Dept Pediat, Washington, DC 20007 USA

[15] George Washington Univ, Childrens Natl Med Ctr, Sch Med, Washington, DC USA

[16] New York State Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA

[17] Azienda Osped Senese, Div Neuropsichiatria Infantile, Siena, Italy

[18] Univ Hosp, Dept Gen Psychiat, Vienna, Austria

[19] Inst Pathol & Genet, Ctr Genet Humaine, Gerpinnes, Loverval, Belgium

来源：

NATURE GENETICS | 2003年 / 34卷 / 01期

关键词：

D O I：

10.1038/ng1136

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Many studies have supported a genetic etiology for autism. Here we report Mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

引用

页码：27 / 29

页数：3

共 15 条

[1] A genomewide screen for autism-spectrum disorders:: Evidence for a major susceptibility locus on chromosome 3q25-27 [J].