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A Substitution Involving the NLGN4 Gene Associated with Autistic Behavior in the Greek Population

机译：一个替换涉及NLGN4基因相关与自闭症行为在希腊人口

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Autism is a neurodevelopmental disorder characterized by clinical, etiologic, and genetic heterogeneity. During the last decade, predisposing genes and genetic loci were under investigation. Recently, mutations in two X-linked neuroligin genes, neuroligin 3 (NLGN3) and neuroligin 4 (NLGN4), have been implicated in the pathogenesis of autism. In our ongoing survey, we screened 169 patients with autism for mutations linked with autism. In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age. The same mutation has previously been found in a patient with autism. It is important that, for the first time, a specific mutation in neuroligins is confirmed in a molecular screen in another homogeneous ethnic population. This finding further contributes to consideration of neuroligins as probable candidate genes for future molecular genetic studies, suggesting that a defect of synaptogenesis may predispose to autism.
机译：自闭症是一种神经发育障碍以临床、病原学的,和遗传非均质性。诱发基因和遗传位点调查。和neuroligin 4 (NLGN4),被卷入自闭症的发病机制。调查,我们筛选169名自闭症患者突变与自闭症有关。研究具体的NLGN3和NLGN4基因外显子,我们确定了p.K378R替换(c.1597> NLGN4基因的外显子5 G)病人被发现有轻微的自闭症和正常的智商在3年的年龄。被发现在自闭症患者。重要的是,第一次,一个特定的突变neuroligins确认在另一个齐次种族分子的屏幕人口。考虑neuroligins是可能的未来分子基因的候选基因研究,表明一个缺陷突触发生可能导致自闭症。

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