T. Takeichi

A case of Costello syndrome with a hotspot HRAS substitution p.Gly12Ser and an in silico analysis of the correlation between genotype and clinical severity

Costello syndrome (CS) is a rare RASopathy caused by germline-activating variants in HRAS . We report a Japanese boy with CS harboring the hotspot substitution c.34G>A p.(Gly12Ser) and assess whether computational pathogenicity prediction (AlphaMissense) aligns with clinical severity scores. The patient developed...