title: [Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder].
abstract: OBJECTIVE
  To analyze the clinical manifestations and gene mutation of a 6 year old boy with autism spectrum disorders (ASD).
  
  
  METHODS
  Peripheral blood of the boy and his parents were subjected to genetic testing.
  
  
  RESULTS
  The patient was diagnosed with typical autism. Exome sequencing has identified mutations of four candidate genes, namely TUT1, DIAPH3, REELIN and SETD2, which were confirmed with Sanger sequencing. Analysis of family members confirmed that the missense mutations of DIAPH3 and SETD2 genes were of de novo origin.
  
  
  CONCLUSIONS
  Missense mutations of DIAPH3 and SETD2 genes may have contributed to the risk of ASD. Disrupted neurogenesis associated with such mutations may have been the underlying mechanism for ASD.
authors.affiliation: The Third People's Hospital of Chengdu, the Second Affiliated Hospital of Chongqing Medical University, Chengdu, Sichuan 610031, China; Department of Obstetrics and Gynecology, Joint Laboratory of Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China. Email: Xuwenming1973@163.com.
authors.forename: Jiang
authors.initials: J
authors.lastname: Xie
authors.forename: Hua
authors.initials: H
authors.lastname: Li
authors.forename: Hua
authors.initials: H
authors.lastname: Zhu
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.forename: Hongxia
authors.initials: H
authors.lastname: Li
authors.forename: Xiling
authors.initials: X
authors.lastname: Zhang
authors.forename: Yongmei
authors.initials: Y
authors.lastname: Zhou
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhou
authors.forename: Wenming
authors.initials: W
authors.lastname: Xu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D000067877:Autism Spectrum Disorder / Q000209:etiology / Q000235:genetics*; D002648:Child; D000080865:Formins; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D000091042:Reelin Protein
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C484571:DIAPH3 protein, human; D000080865:Formins; D000091042:Reelin Protein; C000717127:RELN protein, human