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Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento

Print version ISSN 1519-0307On-line version ISSN 1809-4139


FREITAS, Ariane Miranda de; BRUNONI, Décio  and  MUSSOLINI, Juliana Lopes. Autism spectrum disorder: studyof a series of cases with genetic alterations. Cad. Pós-Grad. Distúrb. Desenvolv. [online]. 2017, vol.17, n.2, pp. 101-110. ISSN 1519-0307.

The Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with communication and social interaction impairments, also repetitive and restricted behaviors. Affecting about 1% of population, ASD has a heterogeneous clinical picture, besides several syndromes and psychopathies in comorbidity. Between the causal factors, it's known that the genetic causes represent up to 20% being that the copy number variations (CNVs) forms are the principal ones. The objective of this work is to describe genetic alterations found in 6 ASD patients. The patients were investigated in the Laboratório TEA of Universidade Presbiteriana Mackenzie and the testes were performed in commercial laboratories. Five patients were diagnosed by array and one by exoma sequencing. The genomic coordinates interpretation was performed with usual bioinformatics tools. The chromossomic regions involved were: 3p26.3; 6q; 7q31.3; 7q36.3; 9p21.1; 17q22 and the possible relevant genes in the manifestation of the clinical picture were: B4GALT1, PTPRN2, CNTN4, CNTN6, OXTR, GRM7, SETD5, BZRAP1, SYNGAP1 e IMMP2L.These results were already been published in other patients with ASD. Individuals who present genetic alterations similar to the studied patients have in common the intellectual disability. Thus, this clinical feature should be the main indication to investigate a genetic cause comorbidity in patients with ASD.

Keywords : Autism; Autism Spectrum Disorder; array; exome; genetic alterations.

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