Special Issue "Unravelling Genetic and Epigenetic Mechanisms in RASopathies"
Deadline for manuscript submissions: 28 February 2021.
Interests: RASopathies; cancer; genetic and genomic studies; functional studies; inheritance mechanisms; molecular genetics; epigenetics
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
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- variable expressivity
- genetic heterogeneity
- genetic and genomic studies
- functional studies
- inheritance mechanisms