Wu Songlin, Liang Shuyuan, Yan Yan, Wang Yuequn, Li Fang, Deng Yun, Huang Wen, Yuan Wuzhou, Luo Na, Zhu Chuanbing, Wang Ying, Li Yongqing, Liu Mingyao, Wu Xiushan
The Center for Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Sciences, Hunan Normal University, Changsha, 410081, Hunan, People's Republic of China.
Bone. 2007 Jun;40(6):1630-4. doi: 10.1016/j.bone.2007.02.025. Epub 2007 Mar 6.
Camurati-Engelmann disease (CED) [OMIM 131300] is a rare autosomal dominant disorder characterized by bone pain and osteosclerosis affecting the diaphysis of long bones. It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGF beta1) gene on chromosome 19q13.1-q13.3. Until now, seven mutations (LLL12-13ins, Y81H, R156C, R218C, R218H, H222D, C225R) in Australian, French, Belgian, Japanese, and European families have been reported and these data showed that there was no correlation between the nature of the mutations and the variability of the clinical manifestations. In this study, we found a Chinese family with CED and observed some intra-familial clinical variability and symptoms that became more severe with the age. A new TGF beta1 mutation (E169K) in exon 2 was identified in the Chinese family using polymerase chain reaction, direct sequencing analysis of PCR products and single-strand conformation polymorphism analysis. This mutation has not been previously reported in other countries in the world.
卡穆拉蒂-恩格尔曼病（CED）[在线人类孟德尔遗传数据库编号131300]是一种罕见的常染色体显性疾病，其特征为骨痛和影响长骨干的骨硬化。此前有报道称，CED是由19号染色体q13.1 - q13.3上的转化生长因子β1（TGFβ1）基因突变引起的。到目前为止，已报道了澳大利亚、法国、比利时、日本和欧洲家庭中的7种突变（LLL12 - 13ins、Y81H、R156C、R218C、R218H、H222D、C225R），这些数据表明突变的性质与临床表现的变异性之间没有相关性。在本研究中，我们发现了一个患有CED的中国家庭，并观察到一些家族内的临床变异性以及症状随年龄增长而加重的情况。利用聚合酶链反应、PCR产物直接测序分析和单链构象多态性分析，在中国家庭中鉴定出了位于外显子2的一种新的TGFβ1突变（E169K）。这种突变此前在世界上其他国家尚未有报道。
