Abstract :
Ubiquitin E3 ligase (UBE3A) is a protein with twofold functions as a steroid hormone receptor transcriptional coactivator and as an E3 ubiquitin ligase. UBE3A excess through gene duplication or triplication or gain-of-function mutation increases the risk for autism spectrum disorders (ASD). Our aims were, first, to screen for UBE3A T485A mutation in a cohort of Egyptian children with ASD. Second, to evaluate any associations between UBE3A T485A mutation with behavioral and psychological data of children with ASD. UBE3A T485A mutation analysis was done by real-time PCR in fifty children with ASD and fifty healthy controls. Eighteen patients with ASD (36%) have homozygous mutations, 16 patients (32%) have heterozygous mutations and 16 patients have no mutation. Our study suggested that UBE3A T485A missense mutation, may contribute to autism pathology. Future large studies will be needed on T485A point mutation that hyperactivates UBE3A and the relation of this mutation to the clinical and psychological characteristics of ASD patients.
