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Article

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

European journal of human genetics : EJHG - 1 Sept 2022

Lindsey-Temple Suzanna, Edwards Matt, Rickassel Verena, Nauth Theresa, Rosenberger Georg

Abstract excerpt

Costello syndrome (CS) is caused by heterozygous HRAS germline mutations. Most patients share the HRAS variant p.Gly12Ser that is associated with a typical, homogeneous phenotype. Rarer pathogenic HRAS variants (e.g., p.Thr56Ile) were identified in individuals with attenuated CS phenotypes. The obvious phenotypical variability reflects different dysfunctional consequences of distinct HRAS variants. We report on...

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Identifiers

PMID: 35764878
DOI: 10.1038/s41431-022-01139-1
PMCID: PMC9437031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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