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Article

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Human mutation - 1 Feb 2008

Denayer Ellen, Parret Annabel, Chmara Magdalena, Schubbert Suzanne, Vogels Annick, Devriendt Koen, Frijns Jean-Pierre, Rybin Vladimir, de Ravel Thomy J, Shannon Kevin, Cools Jan, Scheffzek Klaus, Legius Eric

Abstract excerpt

Costello syndrome is a mental retardation syndrome characterized by high birth weight, postnatal growth retardation, coarse face, loose skin, cardiovascular problems, and tumor predisposition. De novo heterozygous missense mutations in HRAS codon 12 and 13 disturbing the intrinsic GTP hydrolysis cause Costello syndrome. We report a patient with typical Costello syndrome and a novel heterozygous missense mutation...

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PMID: 17979197
DOI: 10.1002/humu.20616

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HRAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.PMID 17979197Read ↗

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.Semantic proximity Read ↗

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.Semantic proximity Read ↗

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A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.Semantic proximity Read ↗

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.Semantic proximity Read ↗

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.Semantic proximity Read ↗

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