Abstract：
The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT‑2) gene. A patient with multiple exostoses with huge cartilage‑capped tumors in scapula, knees and ankles received surgery in Department of Orthopedics (Shanghai Changhai Hospital). A total of 20 family members were recruited to the study, with seven members (five male; two female) diagnosed as HME. The family members of the patients with HME were examined, clinical data and peripheral blood samples were collected, and their DNA was sequenced. The incidence of HME in this family pedigree was 35%. Exostoses were most frequently in the tibiae with occurrence in six patients, followed by ribs, femurs, radii, fibulae, scapulae and humeri. DNA sequencing of peripheral blood revealed a novel deletion mutation, c.824‑826delGCA, in exon 5 of the EXT‑2 gene, which was observed in all the patients with HME, but not in the healthy family members. Several characteristics of HME in the pedigree were observed, such as susceptibility of male gender, decreased average age of onset and height and increased severity of clinical symptoms with generations.
摘要：
本研究的目的是报告一个大型中国血统的遗传性多发性外生骨（HME）的临床调查，并鉴定了外生骨素糖基转移酶2（EXT‑2）基因的新缺失突变。一名患有多发性外生骨的患者，肩胛骨有巨大的软骨覆盖肿瘤，膝盖和脚踝在骨科（上海长海医院）接受了手术。总共招募了20名家庭成员参加研究，有七名成员（五名男性；两名女性）被诊断为HME。对HME患者的家庭成员进行了检查，收集临床资料和外周血样本,对他们的DNA进行了测序.HME在该家系中的发病率为35%。外生在胫骨中最常见，发生在6例患者中，接着是肋骨,股骨,半径,腓骨,肩胛骨和肱骨.外周血DNA测序显示一种新的缺失突变,c.824‑826delGCA,在EXT‑2基因的外显子5中，这在所有HME患者中都观察到，但不是健康的家庭成员。在谱系中观察到HME的几个特征，比如男性的易感性，随着世代的增加，平均发病年龄和身高降低，临床症状的严重程度增加。
