COPY NUMBER VARIATIONS IN THE ETIOLOGY OF AUTISM SPECTRUM DISORDERS

Abstract

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, they seem to be involved in neurogenesis, neuronal migration, differentiation and degeneration. We want emphasize that the final phenotype is variable, related not only to the genetic background but also to environmental factors