AUTS2 expression within mammalian lineage: A predictor of neural networks involved in autism spectrum disorders  

作　　者：Aude-Marie Lepagnol-Bestel Yann Loe-Mie Mounia Bensaid Michel Simonneau 

机构地区：[1]INSERM U894,Centre de Psychiatrie et Neuroscience,UniversitéParis Descartes,Paris 75014,France [2]Universitéde Reims Champagne-Ardenne,URCATech,2 Av.Robert Schuman,Reims 51100,France [3]Ecole Royale de Service de SantéMilitaire.Hôpital Militaire d'Instruction Mohammed V,Rabat 10100,Morocco [4]UniversitéParis-Saclay,École Normale Supérieure Paris-Saclay,Centre National de la Recherche Scientifique,CentraleSupélec,LuMIn,Gif-sur-Yvette 91190,France [5]Department of Biology,École Normale Supérieure Paris-Saclay UniversitéParis-Saclay,Gif-sur-Yvette 91190,France

出　　处：《Genes & Diseases》2025年第3期11-14,共4页基因与疾病(英文)

基　　金：founded by SFR Cap Santé,Universitéde Reims Champagne-Ardenne,Reims,France to Aude-Marie Lepagnol-Bestel,a European Grant ERA-Net Cofund Action on Nanomedicine under Horizon 2020 Euronanomed 3(project MoDiaNo);CNES(Centre National d'Etudes Spatiales)grant(MemoBion)to Michel Simonneau.

摘　　要：The autism susceptibility candidate 2(AUTS2)gene1,2 at 7q11.2 was first identified and found disrupted because of a balanced translocation in a pair of monozygotic twins with autism spectrum disorder(ASD).Analysis of 60 novel cases suggests that clinical phenotypes are more closely associated with intellectual disability rather than directly linked to ASD features.Human AUTS2 is a highly conserved gene that spans 1.2 Mb.Human AUTS2 protein has two major isoforms,full-length(1259 aa)and C-terminal(711 aa).Phenotypic analysis of patients indicated that they had borderline to severe intellectual disability/developmental delay,and 83%e100%had microcephaly.Mild dysmorphology was present.Specific traits of autism(like obsessive behavior)were seen frequently(83%).AUTS2 is also associated with alcohol consumption,heroin dependence,schizophrenia,and dyslexia,as analyzed using GWAS studies.

关 键 词：balanced translocation auts novel cases autism spectrum disorders autism spectrum disorder asd analysis clinical phenotypes monozygotic twins intellectual disability 

分 类 号：R749.94[医药卫生—神经病学与精神病学]