2019
DOI: 10.1002/iub.2021
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Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism

Abstract: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with impairments in social communication, restricted, repetitive and stereotyped behaviors. Both genetic and environmental factors are known to contribute toward pathophysiology of Autism. Environmental influences on gene expression can be mediated by methylation patterns which are established and maintained by DNA methyltransferases. Several studies in the past have investigated the role of global methylations in Autism. The present study… Show more

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Cited by 16 publications
(12 citation statements)
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“…Additionally, mutations in DNMT3B have been associated with immunodeficiency, centromere instability, facial anomalies (ICF) syndrome, also leading to global histone modification changes [48]. Furthermore, single‐nucleotide polymorphisms (SNPs) in DNMTs have been associated with autism spectrum disorder (ASD) [49]. Mutations to the ‘readers’ of DNA methylation also have neurodevelopmental consequences, particularly in the case of MeCP2: MECP2 loss‐of‐function mutations have been found to cause Rett syndrome [50], a progressive childhood neurological disorder characterized by developmental stagnation and subsequent regression, in which previously learned motor, communicative and social skills are lost [51].…”
Section: Epigenetic Modificationsmentioning
confidence: 99%
“…Additionally, mutations in DNMT3B have been associated with immunodeficiency, centromere instability, facial anomalies (ICF) syndrome, also leading to global histone modification changes [48]. Furthermore, single‐nucleotide polymorphisms (SNPs) in DNMTs have been associated with autism spectrum disorder (ASD) [49]. Mutations to the ‘readers’ of DNA methylation also have neurodevelopmental consequences, particularly in the case of MeCP2: MECP2 loss‐of‐function mutations have been found to cause Rett syndrome [50], a progressive childhood neurological disorder characterized by developmental stagnation and subsequent regression, in which previously learned motor, communicative and social skills are lost [51].…”
Section: Epigenetic Modificationsmentioning
confidence: 99%
“…Several cannabinoids in addition to Δ9-tetrahydrocannabinol (THC) were implicated in such actions including cannabidiol, cannabinol, cannabichromene, cannabigerol and tetrahydrocannabivarin. A rich literature demonstrates the impacts of epigenomics on brain development and its involvement in autistic spectrum disorders [156][157][158][159][160][161]. Whether cannabis is acting by epigenetic or other routes including those outlined above remains to be demonstrated.…”
Section: Cannabis and Autismmentioning
confidence: 99%
“…(Chahrour and Zoghbi 2007; Gabel et al 2015). Additionally, mutations on DNMT3A have been widely reported in ASD (Alex et al 2019; Yokoi et al 2020) as well as those with intellectual disabilities (Tatton-Brown et al 2014). As such, our proposed mechanism is that mutations in the region on or surrounding DNMT3A in conjunction with mutations of FOXP2 binding sites jointly confer the risk of ASD.…”
Section: Resultsmentioning
confidence: 99%