A sequencing study across 7 countries identified 38 new genes to autism or developmental delay and intellectual disability. A total of 208 candidate genes were sequenced from >11,730 cases and >2,867 controls; 91 genes, including 38 new neurodevelopmental disorders (NDD) genes were identified, with an excess of de novo (spontaneous) mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. There were 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease. The work highlights genetic differences between the conditions, and suggests that autism is distinct from developmental delay and intellectual disability and that some genes are significant in only one condition. Source: http://www.nature.com/
7个国家的一项测序研究确定了38个新的自闭症或发育迟缓和智力障碍基因。来自> 11,730例病人和> 2,867例对照中的208个候选基因得以测序; 确定了91个基因，包括38个新的神经发育障碍基因，在5.7％的病例中有过度的新生（自发）突变或个别破坏性突变。果蝇功能测定显示有部分涉及神经发育障碍。相对于智力障碍，有25个基因显示偏向自闭症，并强调了一个与高功能自闭症（全面性IQ> 100）相关的网络。 对NAA15，KMT5B和ASH1L的临床随访则突显了新的综合征和非综合征型疾病。该研究突出了两种病况之间的遗传差异，提示自闭症不同于发育迟缓和智力障碍，且某些基因只在一种病况中显著。来源：http://www.nature.com/