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Article

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

American journal of medical genetics. Part A - 1 Jun 2016

Hiippala Anita, Vasilescu Catalina, Tallila Jonna, Alastalo Tero-Pekka, Paetau Anders, Tyni Tiina, Suomalainen Anu, Euro Liliya, Ojala Tiina

Abstract excerpt

We report a 10-year-old girl presenting with severe neonatal hypertrophic cardiomyopathy (HCM), feeding difficulties, mildly abnormal facial features, and progressive skeletal muscle symptoms but with normal cognitive development. Targeted oligonucleotide-selective sequencing of 101 cardiomyopathy genes revealed the genetic diagnosis, and the mutation was verified by Sanger sequencing in the patient and her...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26888048
DOI: 10.1002/ajmg.a.37596

Genes

HRAS

Variants

Provenance

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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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.PMID 26888048Read ↗

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

Costello syndrome associated with novel germline <i>HRAS</i> mutations: An attenuated phenotype?Semantic proximity Read ↗

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 ↗

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Semantic proximity Read ↗

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.Semantic proximity Read ↗

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 ↗

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

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

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

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

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