Germline mutations in HRAS proto-oncogene cause Costello syndrome by Aoki Yoko, Niihori Tetsuya, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Tanaka Yukichi, Filocamo Mirella, Kato Kumi, Suzuki Yoichi, Kure Shigeo, Matsubara Yoichi in Nature genetics (2005). PubMed

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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