Germline mutations in HRAS proto-oncogene cause Costello syndrome
Germline mutations in HRAS proto-oncogene cause Costello syndrome
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DOI：
10.1038/ng1641
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发表时间：
2005-10-01
期刊：
影响因子：
30.8
通讯作者：
Matsubara, Y
中科院分区：
文献类型：
--
作者：
Aoki, Y;Niihori, T;Matsubara, Y
Costello综合征是一种以面部粗糙、皮肤松弛、心肌病和易患肿瘤为特征的多发性先天畸形和智力低下综合征。我们在13例受影响的个体中的12例中发现了4种HRAS的杂合性从头突变，所有这些突变先前都被报道为各种肿瘤中的体细胞和致癌突变。我们的观察表明，HRAS的生殖系突变扰乱人类发育，增加对肿瘤的易感性。
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.