TSC1 and Down syndrome: Recent insights into the genetic pathways that are altered in ASDs have come from studies of syndromic disorders with a high incidence of ASDs caused by mutations of a single gene, including fragile X syndrome (fragile X mental retardation 1 protein, FMR1), Rett syndrome (methyl-CpG-binding protein 2 protein, MECP2), tuberous sclerosis (tuberous sclerosis 1 protein, TSC1), neurofibromatosis type 1 (neurofibromin 1 protein, NF1), and PTEN (phosphatase and tensin homologue) macrocephaly.