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Article

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

American journal of medical genetics. Part A - 1 Feb 2026

Rautiainen Nikole, Brandt Eveliina, Kettunen Kaisa, Elomaa Outi, Kivirikko Sirpa, Jeskanen Leila, Lappalainen Katriina, Sjöblom Nelli, Kere Juha, Hannula-Jouppi Katariina, Harjama Liisa

Abstract excerpt

Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three-generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr) causing a predominantly ectodermal phenotype. Exome and Sanger...

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Identifiers

PMID: 41074678
DOI: 10.1002/ajmg.a.64277

Genes

HRAS
CS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.PMID 41074678Read ↗

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 ↗

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Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.Semantic proximity Read ↗

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Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.Semantic proximity Read ↗

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