Germline mutations in HRAS proto-oncogene cause Costello syndrome

被引：509

作者：

Aoki, Y

Niihori, T

Kawame, H

Kurosawa, K

Filocamo, M

Kato, K

Suzuki, Y

Kure, S

Matsubara, Y

机构：

[1] Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 9808574, Japan

[2] Nagano Childrens Hosp, Div Med Genet, Nagano, Japan

[3] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[4] Saitama Childrens Med Ctr, Div Med Genet, Saitama, Japan

[5] Kanagawa Childrens Med Ctr, Div Pathol, Yokohama, Kanagawa, Japan

[6] IRCCS G Gaslini, Lab Diag Prepostnatale Malattie Metab, Genoa, Italy

[7] Tohoku Univ, 21st Century COE Program Comprehens Res & Educ Ct, Sendai, Miyagi 980, Japan

来源：

NATURE GENETICS | 2005年 / 37卷 / 10期

关键词：

D O I：

10.1038/ng1641

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1038 / 1040

页数：3

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