Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.

Diana Carli Nicoletta Resta Giovanbattista Giovanni Battista Ferrero Martino Ruggieri Alessandro Mussa

Published in: American journal of medical genetics. Part C, Seminars in medical genetics (2022)

Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, segmental overgrowth, and increased cancer risk. They are caused by somatic pathogenic variants of the genes belonging the RAt Sarcoma Mitogen-activated protein kinase (RAS/MAPK) pathway causing its hyperactivation. Here, we review the clinical and molecular characteristics of this heterogeneous group of diseases, including the possibilities of molecular diagnosis and new therapeutic perspectives.

Keyphrases

early onset
copy number
genome wide
oxidative stress
late onset
signaling pathway
wild type
dna methylation
pi k akt
bioinformatics analysis
genome wide identification
single molecule
gene expression
protein kinase
gestational age
preterm birth