GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders  

作　　者：Fengyun Zheng Guoyuan Liu Ting Dang Qiaowen Chen Yu An Meng Wu Xiangxuan Kong Zilong Qiu Bai-Lin Wu 

机构地区：[1]Institutes of Biomedical Sciences,Fudan University,Shanghai,200032,China [2]Department of Pathology,School of Basic Medical Sciences,Fudan University,Shanghai,200032,China [3]Children’s Hospital of Fudan University,Shanghai,201102,China [4]Boston Children’s Hospital and NGS Collaboration,Harvard Medical School,Boston,02115,USA [5]Institute of Neuroscience,State Key Laboratory of Neuroscience,CAS Center for Excellence in Brain Science and Intelligence Technology,Chinese Academy of Sciences,Shanghai,200031,China [6]The College of Life Science,University of the Chinese Academy of Sciences,Beijing,100049,China

出　　处：《Neuroscience Bulletin》2021年第8期1240-1245,共6页神经科学通报（英文版）

基　　金：the National Natural Science Foundation of China(31671461,31301162,31625013,and 81941405);973 Program from the Ministry of Science and Technology of China(2013CB945404 and 2010CB529601);Shanghai Brain-Intelligence Project from STCSM(16JC1420501);the Strategic Priority Research Program of the Chinese Academy of Sciences(XDBS01060200 and XDA16010310);the Shanghai Municipal Science and Technology Major Project(2018SHZDZX05).

摘　　要：Dear Editor,Autism spectrum disorders(ASDs)are neurodevelopmen-tal disorders with phenotypic and genetic heterogeneity,and are among the most heritable of neurodevelopmental disorders[1].Rare single nucleotide variants(SNVs)of genes and/or rare copy number variants(CNVs)involving gene variants and/or genomic imbalances play an important role in ASD,but their molecular pathogenic mechanisms remain indistinct[2].Over the decades,genetic and neurobiological studies mainly involving severe ASD comorbid with intellectual disability(ID)or developmental delay(DD)have indicated that loss of function affects neural development[3].

关 键 词：RARE ISM delay 

分 类 号：R749.94[医药卫生—神经病学与精神病学]