Germline mutations in HRAS proto-oncogene cause Costello syndrome

  title={Germline mutations in HRAS proto-oncogene cause Costello syndrome},
  author={Yoko Aoki and Tetsuya Niihori and Hiroshi Kawame and Kenji Kurosawa and Hirofumi Ohashi and Yukichi Tanaka and Mirella Filocamo and Kumi Kato and Y. Suzuki and Shigeo Kure and Yoichi Matsubara},
  journal={Nature Genetics},
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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Nature Genetics Br I E F Commun Icat I Ons

  • R. C. Hennekam
  • Am. J. Med. Genet. C Semin. Med. Genet
  • 2003

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