Relevância da genética na etiologia do autismo

dc.contributor.authorEstécio, Marcos Roberto Higino [UNESP]
dc.contributor.authorFett-Conte, Agnes Cristina
dc.contributor.authorSilva, Ana Elizabete [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionFaculdade de Medicina de São José do Rio Preto (FAMERP)
dc.description.abstractAutism constitutes one of the most important pathologies of the pervasive developmental disorders (PDDs). It has early age-onset and is characterized by delay and deviance of social, communicative and cognitive development. Today, the presence of genetic factors in its etiology is well known, with familial recurrence of autism and other psychiatric conditions. Autism does not have usual Mendelian inheritence and presents genetic heterogeneity. Strong association has been found between autism and the fragile X syndrome (FMR-1 gene) and with tuberous sclerosis (Bourneville's syndrome). However, many different chromosomal abnormalities were recently described in autistic patients, mainly of chromosome 7 and 15. There are some genes on 15q11-q13 whose products have expression in the central nervous system, mainly synapses, which are subunits of neurotransmitters or ion channels (UBE3A, GABRA5, GABRB3, GABRG3, CHRNA7 e ITO). Some regions of chromosome 7 also have important developmental genes, as EN-2 and HOXA, which act on central nervous system formation. There seems then to exist genes associated with autism etiology on chromosomes 7,15 and X. The detailed study of these chromosomes can produce knowledgment about the biological mechanisms involved in this disturbance.en
dc.description.affiliationIBILCE/UNESP Camp. de S. José do Rio Preto, Saõ Paulo
dc.description.affiliationDepto. de Biologia Molecular Faculdade de Medicina FAMERP, Sao Jose do Rio Preto-SP
dc.description.affiliationDeptartamento de Biologia IBILCE/UNESP Camp. de S. José do Rio Preto, Saõ Paulo
dc.description.affiliationUnespIBILCE/UNESP Camp. de S. José do Rio Preto, Saõ Paulo
dc.description.affiliationUnespDeptartamento de Biologia IBILCE/UNESP Camp. de S. José do Rio Preto, Saõ Paulo
dc.identifier.citationJornal Brasileiro de Psiquiatria, v. 49, n. 7, p. 239-246, 2000.
dc.relation.ispartofJornal Brasileiro de Psiquiatria
dc.rights.accessRightsAcesso restrito
dc.subjectChromosome 15
dc.subjectChromosome 7
dc.subjectFragile X syndrome
dc.titleRelevância da genética na etiologia do autismopt
dc.title.alternativeRelevance of genetics in autism etiologyen
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt