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Article

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

American journal of medical genetics. Part A - 1 Sept 2011

Gripp Karen W, Stabley Deborah L, Geller Peter L, Hopkins Elizabeth, Stevenson David A, Carey John C, Sol-Church Katia

Abstract excerpt

Costello syndrome was first reported based on its characteristic phenotype. Its presentation affects multiple organ systems, including severe failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. Heterozygous germline mutations in the proto-oncogene HRAS have been recognized to cause Costello syndrome, and its...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21834037
DOI: 10.1002/ajmg.a.34150
PMCID: PMC3158836

Genes

HRAS

Variants

Provenance

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.PMID 21834037Read ↗

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

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

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.Semantic proximity Read ↗

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

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

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.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 ↗

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.Semantic proximity Read ↗

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

Paternal bias in parental origin of HRAS mutations in Costello syndrome.Semantic proximity Read ↗

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.Semantic proximity Read ↗

Germline mutations in HRAS proto-oncogene cause Costello syndrome.Semantic proximity Read ↗

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