Literature DB >> 16170316

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Yoko Aoki1, Tetsuya Niihori, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Yukichi Tanaka, Mirella Filocamo, Kumi Kato, Yoichi Suzuki, Shigeo Kure, Yoichi Matsubara.   

Abstract

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.

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Year:  2005        PMID： 16170316     DOI： 10.1038/ng1641

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  211 in total

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Review 4.  High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

Authors:  Karen W Gripp; Elizabeth Hopkins; Daniel Doyle; William B Dobyns
Journal:  Am J Med Genet A       Date:  2010-05       Impact factor: 2.802

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Review 7.  Deconstructing signal transduction pathways that regulate the actin cytoskeleton in dendritic spines.

Authors:  Peter Penzes; Michael E Cahill
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8.  Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Authors:  Karen W Gripp; Deborah L Stabley; Peter L Geller; Elizabeth Hopkins; David A Stevenson; John C Carey; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

9.  Cardiomyopathies in Noonan syndrome and the other RASopathies.

Authors:  Bruce D Gelb; Amy E Roberts; Marco Tartaglia
Journal:  Prog Pediatr Cardiol       Date:  2015-07-01

10.  An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Authors:  Karen W Gripp; Katia Sol-Church; Patroula Smpokou; Gail E Graham; David A Stevenson; Heather Hanson; David H Viskochil; Laura C Baker; Bridget Russo; Nick Gardner; Deborah L Stabley; Verena Kolbe; Georg Rosenberger
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802
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