Case report
Open access
Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum
J. Lalošević
K. Djordjevic
Mirjana Gajić-Veljić
Sonja Pavlović
V. Gasic
M. Andjelkovic
Miloš Nikolić
Medicine
Abstract
Costello syndrome (CS) is a rare RASopathy, mostly caused by de novo heterozygous pathogenic variants in the HRAS gene. Over 80% of cases involve the germline p.Gly12Ser variant, resulting in a fairly uniform phenotype of neuro‐cardio‐facio‐cutaneous involvement with an increased risk of malignancy. Consequences of other rare HRAS variants are less well understood due to the limited number of reported cases.