De novo SCN2A splice site mutation in a boy with autism spectrum disorder

Original case report by T. Tavassoli et al. (2014).

Read the report here.

This article details behaviors and clinical findings in a seven-year-old boy with a SCN2A genetic change (mutation). As a gene highly expressed in the brain, mutations in SCN2A have been linked to autism, as well as intellectual disability, ataxia, and epilepsy. The individual in this paper exhibited a de novo, or “new,”mutation of the SCN2A gene which results in a portion of the gene being deleted. Over a period of four years, researchers noted that the child exhibited distinct facial features, social and language impairments, and motor delays. He was clinically diagnosed with autism spectrum disorder (ASD). Of interest, he was not found to have any history of seizures (although late onset cannot be ruled out). While the boy’s specific mutation is not currently linked to autism, this study, as well as future research, may suggest that it may be a contributing factor.