HRAS原癌基因的种系突变会导致科斯特洛综合征。

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

作者信息

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

机构信息

Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan.

出版信息

Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18.

DOI:10.1038/ng1641

PMID:16170316

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.

摘要

科斯特洛综合征是一种多发性先天性异常和智力发育迟缓综合征，其特征为面部粗糙、皮肤松弛、心肌病以及易患肿瘤。我们在13名受影响个体中的12名中鉴定出HRAS的四个杂合新发突变，所有这些突变先前在各种肿瘤中均被报道为体细胞和致癌突变。我们的观察结果表明，HRAS中的种系突变会扰乱人类发育并增加患肿瘤的易感性。