De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis.

ABSTRACT: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized by its clinical and etiological heterogeneity, which makes it difficult to elucidate the neurobiological mechanisms underlying its pathogenesis. Recently, de novo mutations (DNMs) have been recognized as strong source of genetic causality. Here, we review different aspects of the DNMs associated with ASD, including their functional annotation and classification. In addition, we also focus on the most recent advances in this area, such as the detection of PZMs (post-zygotic mutations), and we outline the main bioinformatics tools commonly employed to study

SUBMITTER: Alonso-Gonzalez A 

PROVIDER: S-EPMC6160549 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature