PTEN Mutation in Children with Autism Spectrum Disorder

Recent case reports have described PTEN gene mutations in children with autism, mental retardation and macrocephaly. 

In our study we propose to estimate the prevalence of PTEN mutation in a clinic sample of ADOS proven autism spectrum disorder patients with relative and absolute macrocephaly. We propose performing mutation identification by DNA sequencing of the promoter and coding regions of the PTEN gene and to better characterize the phenotype-genotype correlation with ASD and PTEN mutation.