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Special Issue "Unravelling Genetic and Epigenetic Mechanisms in RASopathies"

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

Deadline for manuscript submissions: 28 February 2021.

Special Issue Editor

Dr. Paola Riva
Guest Editor
Università degli Studi di Milano, Milan, Italy
Interests: RASopathies; cancer; genetic and genomic studies; functional studies; inheritance mechanisms; molecular genetics; epigenetics

Special Issue Information

Dear Colleagues,

The RASopathies are a group of syndromic conditions caused by germline pathogenic variants in genes that encode RAS pathway proteins. Pathogenic mutations alter regulatory protein-protein interactions within the pathway, resulting in prolonged RAS/MAPK pathway activation with increased phosphorylation of downstream effectors, MEK and ERK. Some of them can be caused by a mutation in one of a subset of RAS pathway genes. The classical RASopathies include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML) Costello (CS), cardiofaciocutaneous (CFCS), neurofibromatosis type 1 (NF1), and Legius syndrome (LS), sharing common clinical features such as dysmorphisms, congenital heart disease, growth defects, neurocognitive impairments, and cancer predisposition. These disorders are characterized by variable expressivity and some of them, NS, NSML and CFCS, by locus heterogeneity, with a poor genotype-phenotype correlation. Despite the fact that several NS genes are known, 20-30% of patients remain without molecular diagnosis, suggesting the involvement of further genes or multiple pathogenic mechanisms. Another interesting RASopathy showing peculiar features is NF1: different forms of NF1 have been described, such as classical NF1, spinal NF1 (SNF) and NF1 microdeletion syndrome, but at now only the haploinsufficiency of the NF1 gene, which have been implicated in the pathogenesis. In NF1, NS and other RASopathy forms, the variable severity of the clinical phenotype is also evident in familial cases, indicating that modifier genes and/or other genetic/epigenetic mechanisms could have a role in the pathogenesis. The scope of this issue is to promote studies to unravel the complexity of RASopathies by investigating genetic/epigenetic and clinical aspects to carry out genotype-phenotype correlation, including cancer predisposition, helping prognosis, counselling, and addressing pharmacological studies.

Dr. Riva Paola
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 papers will be 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.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • RASopathies
  • cancer
  • variable expressivity
  • genetic heterogeneity
  • genetic and genomic studies
  • functional studies
  • inheritance mechanisms
  • epigenetics

Published Papers

This special issue is now open for submission.
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