De novo SCN2A< /em> splice site mutation in a boy with autism spectrum disorder< /strong> < /h2>

Original case report by T. Tavassoli� � et al. < /em> (2014) . < /p>

Read the report here< /a> . < /p>

This article details behaviors and clinical findings in a seven-year-old boy with a� � SCN2A< /em> < /i> � �genetic change (mutation) . As a gene highly expressed in the brain, mutations in� � SCN2A< /em> < /i> � �have been linked to autism, as well as intellectual disability, ataxia, and epilepsy. The individual in this paper exhibited a� � de novo< /em> < /i> , or � � �new, � � �mutation of the� � SCN2A< /em> < /i> � �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. < /p>