Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2782031 | Bone | 2007 | 5 Pages |
Abstract
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 (TGFβ1) 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 TGFβ1 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.
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Biochemistry, Genetics and Molecular Biology
Developmental Biology
Authors
Songlin Wu, Shuyuan Liang, Yan Yan, Yuequn Wang, Fang Li, Yun Deng, Wen Huang, Wuzhou Yuan, Na Luo, Chuanbing Zhu, Ying Wang, Yongqing Li, Mingyao Liu, Xiushan Wu,