Nature Genetics
37, 1038 - 1040 (2005)
Published online: 18 September 2005; | doi:10.1038/ng1641
Germline mutations in HRAS proto-oncogene cause Costello syndromeYoko Aoki1, Tetsuya Niihori1, Hiroshi Kawame2, Kenji Kurosawa3, Hirofumi Ohashi4, Yukichi Tanaka5, Mirella Filocamo6, Kumi Kato1, 7, Yoichi Suzuki1, Shigeo Kure1
& Yoichi Matsubara1, 71
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan. 2
Division of Medical Genetics, Nagano Children's Hospital, Nagano, Japan. 3
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. 4
Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. 5
Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan. 6
Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, Genova, Italy. 7
Tohoku University 21st Century COE Program "Comprehensive Research and Education Center for Planning of Drug Development and Clinical Evaluation," Sendai, Japan.
Correspondence should be addressed to Yoko Aoki aokiy@mail.tains.tohoku.ac.jp 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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