Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients

J Autism Dev Disord. 2022 Nov;52(11):5033-5041. doi: 10.1007/s10803-021-05365-2. Epub 2021 Nov 23.

Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing.

Keywords: Autism spectrum disorder; Coffin-Siris syndrome; Neurodevelopmental-related disorders; Phenotype; SMARCA4.

MeSH terms

  • Abnormalities, Multiple
  • Autism Spectrum Disorder*
  • Autistic Disorder* / genetics
  • China
  • Chromatin
  • DNA Helicases / genetics
  • Face / abnormalities
  • Hand Deformities, Congenital
  • Humans
  • Intellectual Disability* / genetics
  • Micrognathism
  • Neck / abnormalities
  • Nuclear Proteins / genetics
  • Transcription Factors / genetics

Substances

  • Chromatin
  • Nuclear Proteins
  • Transcription Factors
  • SMARCA4 protein, human
  • DNA Helicases

Supplementary concepts

  • Coffin-Siris syndrome