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

Am J Med Genet A. 2015 Jun;167(6):1381-5. doi: 10.1002/ajmg.a.37050. Epub 2015 Apr 6.


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.

Keywords: autism spectrum disorder; autism susceptibility candidate 2; developmental delay; neurodevelopmental disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology
  • Base Sequence*
  • Child, Preschool
  • Chromosomes, Human, Pair 7
  • Cytoskeletal Proteins
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Exons*
  • Gene Expression
  • Haploinsufficiency
  • Humans
  • Male
  • Molecular Sequence Data
  • Promoter Regions, Genetic
  • Proteins / genetics*
  • Sequence Deletion*
  • Transcription Factors


  • AUTS2 protein, human
  • Cytoskeletal Proteins
  • Proteins
  • Transcription Factors