Exploratory analysis of mutations targeting noncoding RNAs in autism

Marques, Ana Rita; Martiniano, Hugo; Asif, Muhammad; Santos, João Pedro; M. Vicente, Astrid

http://hdl.handle.net/10400.18/4742

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Abstract(s)

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors. Heritability estimates indicate that genetic factors account for ~50% risk of ASD, sugesting a role of epigenetic factors, such as long noncoding RNA (lncRNA) and microRNA (miRNA), as modulators of genetic expression and clinical presentation. Our goal is to identify variants in lncRNA and miRNA loci that disrupt the function of target genes and modulating the high genotypic and phenotypic heterogeneity characteristic of ASD.