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Article

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Nature genetics - 1 Oct 2005

Aoki Yoko, Niihori Tetsuya, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Tanaka Yukichi, Filocamo Mirella, Kato Kumi, Suzuki Yoichi, Kure Shigeo, Matsubara Yoichi

Abstract excerpt

Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We identified four heterozygous de novo mutations of HRAS in 12 of 13 affected individuals, all of which were previously reported as somatic and oncogenic mutations in various tumors. Our observations suggest that germline mutations in HRAS...

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Source

Identifiers

PMID: 16170316
DOI: 10.1038/ng1641

Genes

HRAS

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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Germline mutations in HRAS proto-oncogene cause Costello syndrome.PMID 16170316Read ↗

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

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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 ↗

HRAS and the Costello syndrome.Semantic proximity Read ↗

De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.Semantic proximity Read ↗

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.Semantic proximity Read ↗

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

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

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