Genomic investigation of autism spectrum disorder in a public health service: a case report

International Journal of Development Research

Volume: 
08
Article ID: 
13149
3 pages
Case Report

Genomic investigation of autism spectrum disorder in a public health service: a case report

Thaís C. Vieira, Fabíola F. de Medeiros, João V. de P. Mendanha, Irene P. Pinto, Aparecido D. da Cruz and Marc A. D.Gigonzac

Abstract: 

Autism Spectrum Disorder (ASD) is a complex and heterogeneous clinical condition, which involves an inability to establish affective and interpersonal contact. The etiology of this disorder may be associated with hundreds of different genes, and the use of large-scale genome screening techniques such as Chromosome Analysis by Microarray (CMA) is usually required for its determination. In this report, a child with clinical indication of ASD was evaluated by CMA on the CytoScan HD platform (Affymetrix®), revealing a de novo microdeletion of 248.87Kb at the 21q11.2 locus involving the POTED and C21orf15 genes. CMA has been shown to be an effective method for the identification of genes with potential relation with ASD, and new research that allows recognition of the affected neurobiological pathways is still necessary for a correct understanding of the molecular mechanisms involved.

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