Germline mutations in HRAS proto-oncogene cause Costello syndrome

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

doi:10.1038/ng1641

Germline mutations in HRAS proto-oncogene cause Costello syndrome

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

Research output: Contribution to journal › Article

458 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1038-1040
Number of pages	3
Journal	Nature Genetics
Volume	37
Issue number	10
DOIs	https://doi.org/10.1038/ng1641
Publication status	Published - 2005 Oct 1

ASJC Scopus subject areas

Genetics

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Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S., & Matsubara, Y. (2005). Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nature Genetics, 37(10), 1038-1040. https://doi.org/10.1038/ng1641

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AU - Niihori, Tetsuya

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AU - Ohashi, Hirofumi

AU - Tanaka, Yukichi

AU - Filocamo, Mirella

AU - Kato, Kumi

AU - Suzuki, Yoichi

AU - Kure, Shigeo

AU - Matsubara, Yoichi

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