RGD Reference Report - Germline mutations in HRAS proto-oncogene cause Costello syndrome. - Rat Genome Database

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Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Authors: Aoki, Y  Niihori, T  Kawame, H  Kurosawa, K  Ohashi, H  Tanaka, Y  Filocamo, M  Kato, K  Suzuki, Y  Kure, S  Matsubara, Y 
Citation: Aoki Y, etal., Nat Genet. 2005 Oct;37(10):1038-40. Epub 2005 Sep 18.
RGD ID: 10412308
Pubmed: PMID:16170316   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1641   (Journal Full-text)

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 perturb human development and increase susceptibility to tumors.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Costello syndrome  IAGP 10412308DNA:snps:missense mutations:cds:multiple (human)RGD 
Costello syndrome  ISOHRAS (Homo sapiens)10412308; 10412308DNA:snps:missense mutations:cds:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hras  (HRas proto-oncogene, GTPase)

Genes (Mus musculus)
Hras  (Harvey rat sarcoma virus oncogene)

Genes (Homo sapiens)
HRAS  (HRas proto-oncogene, GTPase)


Additional Information