A novel mutation in the GRIN2A gene associated with autism spectrum disorderOguz Guvenmez1, Serkan Gunes2, Muhammed Furkan Kanca3
1Independent Researcher, Adana, Turkey
2Department of Child and Adolescent Psychiatry, Hatay State Hospital, Hatay, Turkey
3Cukurova University Medical Faculty, Adana, Turkey
International Medicine 2020; 2(2): 144-146 | DOI: 10.5455/im.302645125 PDF
Autism spectrum disorders (ASD) are neurodevelopmental disorders with multiple symptoms including social communication/interaction deficits and restrictive/repetitive behaviors. Several genetic mutations have been reported to be associated with ASD. Here, we present a case report of 4-year-old boy with a novel mutation in the GRIN2A gene and ASD.
Keywords: autism, gene, mutation