台湾多发性外生骨疣患者中的三种新型EXT1和EXT2基因突变。

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.

作者信息

Chen Wen-Chau, Chi Chih-Hsien, Chuang Chia-Chang, Jou I-Ming

机构信息

Department of Emergency Medicine, National Cheng-Kung University Hospital, Tainan, Taiwan.

出版信息

J Formos Med Assoc. 2006 May;105(5):434-7. doi: 10.1016/s0929-6646(09)60143-1.

DOI:10.1016/s0929-6646(09)60143-1

PMID:16638657

Abstract

Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autosomal dominant disorder characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported. Recently, the EXT1 and EXT2 genes were identified by positional cloning. Using polymerase chain reaction and direct sequencing, we analyzed the EXT1 and EXT2 genes in three familial cases and one sporadic case of HME in Taiwanese patients. We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene). Mutation analysis in families with HME allows for genetic counseling and prenatal diagnosis.

摘要

多发性骨软骨瘤病，也称为遗传性多发性外生骨疣（HME），是一种常染色体显性遗传性疾病，其特征是在长骨上存在多个外生骨疣。这些外生骨疣是良性软骨肿瘤（内生软骨瘤）。据报道，在染色体8q（外生骨疣蛋白1，EXT1）、11p（外生骨疣蛋白2，EXT2）和19p（外生骨疣蛋白3，EXT3）上有三个不同的外生骨疣（EXT）位点。最近，通过定位克隆鉴定了EXT1和EXT2基因。我们使用聚合酶链反应和直接测序，分析了台湾患者中3例家族性和1例散发性HME患者的EXT1和EXT2基因。我们发现了三个新的突变（EXT1基因中的S277X，以及EXT2基因中的G194X和939+1G>A）和一个已知突变（EXT2基因中的Q172X）。对HME家族进行突变分析有助于进行遗传咨询和产前诊断。