Epigenetic efects of the mutations in patients with the RAS/MAPK syndromes

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We identified a total of nine missense mutations in RIT1 gene, encoding a member of the RAS subfamily, in 17 of 180 individuals (9%) with Noonan syndrome and related conditions without mutations in known genes. Clinical manifestations in the mutation-positive individuals are consistent with those of Noonan syndrome, which are characterized by distinctive facial appearance, short stature and congenital heart defects. Seventy percent of mutation-positive individuals had hypertrophic cardiomyopathy, a high frequency compared with the 20% incidence in individuals with Noonan syndrome overall.