Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

被引：404

作者：

Berkel, Simone ^{[1
]}

Marshall, Christian R. ^{[2
]}

Weiss, Birgit ^{[1
]}

Howe, Jennifer ^{[2
]}

Roeth, Ralph ^{[1
]}

Moog, Ute ^{[3
]}

Endris, Volker ^{[1
]}

Roberts, Wendy ^{[4
]}

Szatmari, Peter ^{[5
]}

Pinto, Dalila ^{[2
]}

Bonin, Michael ^{[6
]}

Riess, Angelika ^{[6
]}

Engels, Hartmut ^{[7
]}

Sprengel, Rolf ^{[8
]}

Scherer, Stephen W. ^{[2
,9
]}

Rappold, Gudrun A. ^{[1
]}

机构：

[1] Univ Heidelberg, Dept Human Mol Genet, Heidelberg, Germany

[2] Univ Toronto, Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5S 1A1, Canada

[3] Univ Heidelberg, Dept Human Genet, Heidelberg, Germany

[4] Univ Toronto, Hosp Sick Children, Autism Res Unit, Toronto, ON M5G 1X8, Canada

[5] McMaster Univ, Dept Psychiat & Behav Neurosci, Offord Ctr Child Studies, Hamilton, ON, Canada

[6] Univ Tubingen, Inst Human Genet, Dept Med Genet, Tubingen, Germany

[7] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany

[8] Univ Heidelberg, Max Planck Inst Med Res MPI, Heidelberg, Germany

[9] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada

来源：

NATURE GENETICS | 2010年 / 42卷 / 06期

基金：

加拿大创新基金会;

关键词：

POSTSYNAPTIC DENSITY; PROTEINS;

D O I：

10.1038/ng.589

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.

引用

页码：489 / 491

页数：3

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