Germline mutations in HRAS proto-oncogene cause Costello syndrome
Y Aoki, T Niihori, H Kawame, K Kurosawa, H Ohashi… - Nature …, 2005 - nature.com
Y Aoki, T Niihori, H Kawame, K Kurosawa, H Ohashi, Y Tanaka, M Filocamo, K Kato…
Nature genetics, 2005•nature.comCostello 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.
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.
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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