Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
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DOI：
10.1038/ng.589
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发表时间：
2010-06-01
期刊：
影响因子：
30.8
通讯作者：
Rappold, Gudrun A.
中科院分区：
文献类型：
--
作者：
Berkel, Simone;Marshall, Christian R.;Rappold, Gudrun A.
使用微阵列，我们确定了从头SHANK2突触支架基因的拷贝数变异在两个无关的自闭症谱系障碍（ASD）和精神发育迟滞的个人。对396名ASD患者、184名精神发育迟滞患者和659名未受影响的个体（对照组）进行的SHANK2 DNA测序显示了ASD和精神发育迟滞病例特有的其他变异，包括一个新生无义突变和七个罕见的遗传性变化。我们的发现进一步将ASD和智力残疾之间的共同基因联系起来。
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.