Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection
Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection
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DOI：
10.1002/ajmg.b.30287
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发表时间：
2006-04-05
影响因子：
2.8
通讯作者：
Maestrini, E
中科院分区：
文献类型：
--
作者：
Blasi, F;Bacchelli, E;Maestrini, E
神经连接素异常最近被牵连在自闭症谱系障碍（ASD）的活动学中，鉴于在两个X连锁基因NLGN 3和NLGN 4X中发现点突变以及神经连接素在突触发生中的重要作用。为了探讨神经连接蛋白突变在ASD中的相关性和频率，我们对来自国际自闭症分子遗传学研究联盟（IMGSAC）的124名自闭症先证者的样本进行了NLGN 3和NLGN 4X突变筛查。我们发现了一个新的非同义变异NLGN 3（Thr 632 Ala），这可能是一种罕见的多态性。我们的数据表明，这些基因中的编码突变很少与ASD相关。(c)2006 Wiley-Liss，Inc.
Neuroligin abnormalities have been recently implicated in the actiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X-linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). We identified a new non-synonymous variant in NLGN3 (Thr632Ala), which is likely to be a rare polymorphism. Our data indicate that coding mutations in these genes are very rarely associated to ASD. (c) 2006 Wiley-Liss, Inc.