title: De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
abstract: Exonic deletions disrupting the autism susceptibility candidate 2 (AUTS2) gene have been demonstrated as causal variants leading to neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and developmental delay (DD). Here, we report on 830 kb de novo deletion at chromosome 7q11.22 in a 4-year-old male patient with ASD and DD. This deletion disrupts the promoter region and exon 1 of AUTS2, potentially leading to complete haploinsuffiency of the gene. In addition, we discuss the clinical presentation of the de novo deletion in the light of the previous studies describing deletions of AUTS2 in NDDs.
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.
authors: Yi
authors: Y
authors: Liu
authors: Pediatric Health Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.
authors: Dongmei
authors: D
authors: Zhao
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.
authors: Rui
authors: R
authors: Dong
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.
authors: Xiaomeng
authors: X
authors: Yang
authors: Pediatric Health Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.
authors: Yanqing
authors: Y
authors: Zhang
authors: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
authors: Kristiina
authors: K
authors: Tammimies
authors: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
authors: Mohammed
authors: M
authors: Uddin
authors: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.|McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada.
authors: Stephen W
authors: SW
authors: Scherer
authors: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.|Pediatric Health Institute, Qilu Children's Hospital of Shandong University, Ji'nan, China.
authors: Zhongtao
authors: Z
authors: Gai
mesh_terms: D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005091:Exons; D015870:Gene Expression; D057895:Haploinsufficiency; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014157:Transcription Factors
chemical_list: C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D014157:Transcription Factors
keywords: autism spectrum disorder; autism susceptibility candidate 2; developmental delay; neurodevelopmental disorders