Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder

Clin Chim Acta. 2018 Apr;479:144-147. doi: 10.1016/j.cca.2018.01.025. Epub 2018 Feb 2.


Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations. The novel de novo splice alteration c.664 + 2T > G in the DEAF1 gene and the novel de novo missense mutation c.95 C > T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.

Keywords: Autism spectrum disorder; Chromosomal variants; De novo mutations; Massively parallel sequencing; Neurodevelopmental disorder.

MeSH terms

  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / genetics*
  • Child, Preschool
  • China
  • DNA Copy Number Variations / genetics*
  • DNA-Binding Proteins
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Nuclear Proteins / genetics*
  • Transcription Factors


  • DEAF1 protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors