Genomic investigation of autism spectrum disorder in a public health service: a case report
International Journal of Development Research
Genomic investigation of autism spectrum disorder in a public health service: a case report
Received 28th April, 2018 Received in revised form 07th May, 2018 Accepted 09th June, 2018 Published online 30th July, 2018
Copyright © 2018, Thaís C. Vieira et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
