孤独性障碍及其相关的主要遗传综合征:从表型、蛋白到基因

AutisticdisorderOMIM209850],alsoknowasautism,isaneurodevelopmentaldisordercharacterizedbyimpairmentsinthreeaspects:(1)socialinteraction;(2)language,communi cation,andimaginativeplay;(3)rangeofinterestsandactivi ties1].Autisticdisorderbelongstoagroupofseveralcloselyre latedpervasivedevelopmentaldisorders(PDD).The5Diagnos ticandStatisticalManualofMentalDisorders(DSMⅣ)PDDsubtypesare(1)autisticdisorder(classicautism),(2)As pergerdisorder(languagedevelopmentattheexpectedage,no mentalretar…

Principal genetic syndromes and autism: from phenotypes, proteins to genes

Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.