Mutations in Hras gene: a cause of Costello Syndrome

Abstract

Costello syndrome a dominant autosomal disorder with a distinctive prenatal phenotype is known to affect multiple body parts. Costello Syndrome is caused due to the mutations in (Hras), a protooncogene that acts dominantly to promote Costello Syndrome when this gene becomes mutated. In fact, Hras expression is tissue specific and hormone dependent but promotes Costello Syndrome. Analysis of the extensive clinical studies has provided much need information about Costello syndrome. However, a correlation between genotype and phenotype is still far from clear. This review provides a critical appraisal of Costello syndrome in the context of Hras mutation and available clinical diagnosis.