RT Journal Article
T1 De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
A1 Alonso González, Aitana
A1 Rodríguez Fontenla, María Cristina
A1 Carracedo Álvarez, Ángel
K1 Autism Spectrum Disorder
K1 Genetics
K1 Post-zygotic mutations
K1 Neurodevelopmental disorders
K1 de novo mutations
K1 Gene networks
K1 Pathway analysis
K1 Whole exome sequencing
AB 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 these. Some of these approaches available allow DNMs to be analyzed in the context of gene networks and pathways, helping to shed light on the biological processes underlying ASD. To end this review, a brief insight into the future perspectives for genetic studies into ASD will be provided
PB Frontiers Media
YR 2018
FD 2018-09-21
LK http://hdl.handle.net/10347/17641
UL http://hdl.handle.net/10347/17641
LA eng
NO Alonso-Gonzalez A, Rodriguez-Fontenla C and Carracedo A (2018) De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. Front. Genet. 9:406. doi: 10.3389/fgene.2018.00406
NO AA-G was supported by Fundación María José Jove. CR-F was supported by a contract from the ISCIII and FEDER
DS Minerva
RD 24 abr 2026