Hypomagnesemia and seizures in a patient with an SOS1 mutation

Abstract

Noonan syndrome (NS) is an autosomal dominant multisystem disorder. The son of sevenless homolog 1 (symbolized SOS1) gene encodes a guanine nucleotide exchange factor (GEF) for Ras proteins.[1] Genetic disorders in which the SOS1 mutation has been confirmed include NS. Missense mutations in SOS1 account for roughly 10% of NS.[2]