Genetics of autistic spectrum disorders

Abstract

Introduction: Autism Spectrum Disorder (ASD) are disorders in development since precocious childhood, with heterogeneous genetic etiology, multifactorial and complex heritability high. Objective: The purpose of this study was to gather studies that demonstrate factors genetic determinants and define genes having specific changes that directly favor the manifestation of symptoms of ASD. Methods: the methodology used was literature review. Results: Our results point to the significant involvement of genes SHANK3, NLGN3, NLGN4, NRXN1, MDGA2, FHIT, HTR2A, SHANK2, GRIA3, ZNF778, PRKCα, CDH15, DIAPH3, GCH1, GRM5, MARK1, SLC17A6, IMMP2L, BZRAP1, SYNGAP1, ANK3, MAP1A, GABRR2, LAMC3, LRRC7, LRRIQ3, CADPS1, NUFIP, SEMA3A, SNAP29, MBD2, GAD2, DGKH, PARD3, PIK3CG, RELN, NRCAM, LAMB1, WNT2, FOXP2, GRM8, UBE2H, A2BP1, ATP10A, CADPS2, CNTN4, CNTNAP2, DLGAP2, EGR2, EN2, GABRB3, MET, SLC4A10, DISC1, NPTX2, PCDH9, AUTS2 and RBFOX1 in TEA. Conclusion: It was concluded that individuals with ASD have a range of Copy Number Variations (CNVs) rare, less than 10kb, in specific genes, is by incomplete penetration from the parent or mutations again modified in the proband, which are detected by the technique comparative genomic hybridization (array-CGH) used in the diagnosis of ASD.

 Keywords: Autism. Genetic. Genetic Counseling. CNVs.