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Which Role for Epigenetics in Neurodevelopmental and Growth Disorders
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Which Role for Epigenetics in Neurodevelopmental and Growth Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 October 2022) | Viewed by 9179

Special Issue Editor

Dr. Silvia Russo

E-Mail Website
Guest Editor
IRCCS Istituto Auxologico Italiano, Milan, Italy
Interests: rare disorders; neurodevelopment; neurogenesis; omic DNA and RNA analyses; in vitro modeling of patients specific neurons; epi(genetics); imprinting defects and growth disorders; transacting factors

Special Issue Information

Dear Colleagues,

During the last few years, epigenome deregulations, represented by primary epimutations affecting specific CpGs, as happens in imprinting disorders, or by pathogenic variants in components of the epigenetic machinery, have been disclosed as causative of several rare neurodevelopmental and/or growth disorders. The occurrence of disorders characterized by both intellectual disability and growth alterations has also been reported. The aim and challenge of this issue is to collect studies widening the knowledge on rare Mendelian and imprinting disorders affecting the (epi)genome and increasing the knowledge of the mechanisms underlying the interplay between cellular proliferation and the program of neural differentiation.

Studies based on novel disorders due to epigenome deregulations, novel mechanisms or rare variants affecting the genes of the epigenetic machinery, primary epimutations, or in vitro/in vivo studies on these mechanisms will be appreciated.

Dr. Silvia Russo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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Keywords

  • epigenome and epimutations
  • DNA methylation
  • imprinting disorder
  • pathogenetic variants
  • epigenetic genes
  • neurodevelopmental disorders
  • neural differentiation
  • cellular proliferation
  • overgrowth and growth restriction

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Published Papers (2 papers)

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Review

18 pages, 1608 KiB  
Review
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review
by Andrea Stoccoro, Eugenia Conti, Elena Scaffei, Sara Calderoni, Fabio Coppedè, Lucia Migliore and Roberta Battini
Int. J. Mol. Sci. 2023, 24(11), 9138; https://doi.org/10.3390/ijms24119138 - 23 May 2023
Cited by 8 | Viewed by 3172
Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, the underlying pathological mechanisms of which are not yet completely understood. Although several genetic and genomic alterations have been linked to ASD, for the majority of ASD patients, the cause remains unknown, and the [...] Read more.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, the underlying pathological mechanisms of which are not yet completely understood. Although several genetic and genomic alterations have been linked to ASD, for the majority of ASD patients, the cause remains unknown, and the condition likely arises due to complex interactions between low-risk genes and environmental factors. There is increasing evidence that epigenetic mechanisms that are highly sensitive to environmental factors and influence gene function without altering the DNA sequence, particularly aberrant DNA methylation, are involved in ASD pathogenesis. This systematic review aimed to update the clinical application of DNA methylation investigations in children with idiopathic ASD, investigating its potential application in clinical settings. To this end, a literature search was performed on different scientific databases using a combination of terms related to the association between peripheral DNA methylation and young children with idiopathic ASD; this search led to the identification of 18 articles. In the selected studies, DNA methylation is investigated in peripheral blood or saliva samples, at both gene-specific and genome-wide levels. The results obtained suggest that peripheral DNA methylation could represent a promising methodology in ASD biomarker research, although further studies are needed to develop DNA-methylation-based clinical applications. Full article
(This article belongs to the Special Issue Which Role for Epigenetics in Neurodevelopmental and Growth Disorders)
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26 pages, 5230 KiB  
Review
Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models
by Anna Jaruga, Jakub Ksiazkiewicz, Krystian Kuzniarz and Przemko Tylzanowski
Int. J. Mol. Sci. 2022, 23(2), 953; https://doi.org/10.3390/ijms23020953 - 16 Jan 2022
Cited by 12 | Viewed by 5390
Abstract
Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) [...] Read more.
Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects. Full article
(This article belongs to the Special Issue Which Role for Epigenetics in Neurodevelopmental and Growth Disorders)
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