Special Issue "Genetics of Neurodevelopmental Disorders"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 15 November 2021.

Special Issue Editor

Prof. Dr. Zeynep Tümer
E-Mail
Guest Editor
Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark
Interests: identification of genetic/epigenetic mechanism involved in monogenic and complex neurodevelopmental disorders and other rare genetic disorders; syndromic and non-syndromic intellectual disabilities; Tourette syndrome; imprinting disorders; Rett-syndrome and related disorders; Cornelia de Lange syndrome; cohesin deficiency disorders

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDs) are a group of conditions with onset in the developmental period, often in the pre-school years, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. These conditions often co-occur and include intellectual disability, ADHD, OCD, Tourette syndrome, tic disorders, autism spectrum disorder, etc. Although several environmental causes have been recognized, this Special Issue concentrates on the genetic etiology of NDs. Research in the last 20 years has identified a few chromosomal regions, genes, and polymorphisms associated with the development of NDs. In some cases, these genetic variations are rare, often arise de novo, and have a strong effect, but in most cases, a large number of common variants, individually with a minor effect, contribute to the overall phenotype. Some of the underlying pathological mechanisms are well understood, but for most, additional research is needed to pinpoint the biological link between a genetic variant and the associated neuronal deficits. This link may be established by studying certain epigenetic mechanisms serving as a bridge between the environmental and the genetic architecture of neurodevelopmental disorders.

Prof. Dr. Asuman Zeynep Tümer
Guest Editor

Manuscript Submission Information

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Keywords

  • Neurodevelopmental disorders
  • Genetic
  • Epigenetic
  • ADHD
  • OCD
  • Tourette syndrome
  • Tic disorder
  • Autism spectrum disorder
  • Intellectual disability

Published Papers (2 papers)

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Research

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Article
EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder
Genes 2021, 12(10), 1510; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101510 - 26 Sep 2021
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Abstract
Tic spectrum disorder (TSD) is an umbrella term which includes Gilles de la Tourette syndrome (GTS) and chronic tic disorder (CTD). They are considered highly heritable, yet the genetic components remain largely unknown. In this study we aimed to investigate disease-associated DNA methylation [...] Read more.
Tic spectrum disorder (TSD) is an umbrella term which includes Gilles de la Tourette syndrome (GTS) and chronic tic disorder (CTD). They are considered highly heritable, yet the genetic components remain largely unknown. In this study we aimed to investigate disease-associated DNA methylation differences to identify genes and pathways which may be implicated in TSD aetiology. For this purpose, we performed an exploratory analysis of the genome-wide DNA methylation patterns in whole blood samples of 16 monozygotic twin pairs, of which eight were discordant and six concordant for TSD, while two pairs were asymptomatic. Although no sites reached genome-wide significance, we identified several sites and regions with a suggestive significance, which were located within or in the vicinity of genes with biological functions associated with neuropsychiatric disorders. The two top genes identified (TSC1 and CRYZ/TYW3) and the enriched pathways and components (phosphoinosides and PTEN pathways, and insulin receptor substrate binding) are related to, or have been associated with, the PI3K/AKT/mTOR pathway. Genes in this pathway have previously been associated with GTS, and mTOR signalling has been implicated in a range of neuropsychiatric disorders. It is thus possible that altered mTOR signalling plays a role in the complex pathogenesis of TSD. Full article
(This article belongs to the Special Issue Genetics of Neurodevelopmental Disorders)
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Review

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Review
Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?
Genes 2021, 12(5), 782; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12050782 - 20 May 2021
Cited by 2 | Viewed by 1229
Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. [...] Read more.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Folate gene polymorphisms have been previously associated with other psychiatric and neurodegenerative diseases, mainly focused on gene variants in the DHFR gene (5q14.1; rs70991108, 19bp ins/del), MTHFR gene (1p36.22; rs1801133, C677T and rs1801131, A1298C), and CBS gene (21q22.3; rs876657421, 844ins68). Of note, their roles have been scarcely investigated from a sex/gender viewpoint, though ASD is characterized by a strong sex gap in onset-risk and progression. The aim of the present review is to point out the molecular mechanisms related to intracellular folate recycling affecting in turn remethylation and transsulfuration pathways having potential effects on ASD. Brain epigenome during fetal life necessarily reflects the sex-dependent different imprint of the genome-environment interactions which effects are difficult to decrypt. We here will focus on the DHFR, MTHFR and CBS gene-triad by dissecting their roles in a sex-oriented view, primarily to bring new perspectives in ASD epigenetics. Full article
(This article belongs to the Special Issue Genetics of Neurodevelopmental Disorders)
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