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Article

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Clinical dysmorphology - 1 Apr 2017

Pelc Magdalena, Ciara Elżbieta, Jezela-Stanek Aleksandra, Kugaudo Monika, Cieślikowska Agata, Jurkiewicz Dorota, Janeczko Magdalena, Chrzanowska Krystyna, Krajewska-Walasek Małgorzata, Skórka Agata

Abstract excerpt

Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28027064
DOI: 10.1097/MCD.0000000000000165

Genes

HRAS

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.PMID 28027064Read ↗

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 ↗

Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.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 ↗

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.Semantic proximity Read ↗

[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].Semantic proximity Read ↗

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Semantic proximity Read ↗

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.Semantic proximity Read ↗

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.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 ↗

HRAS and the Costello syndrome.Semantic proximity Read ↗

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.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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