title: A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.
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 (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.
authors: 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.
authors: Songlin
authors: S
authors: Wu
authors: Shuyuan
authors: S
authors: Liang
authors: Yan
authors: Y
authors: Yan
authors: Yuequn
authors: Y
authors: Wang
authors: Fang
authors: F
authors: Li
authors: Yun
authors: Y
authors: Deng
authors: Wen
authors: W
authors: Huang
authors: Wuzhou
authors: W
authors: Yuan
authors: Na
authors: N
authors: Luo
authors: Chuanbing
authors: C
authors: Zhu
authors: Ying
authors: Y
authors: Wang
authors: Yongqing
authors: Y
authors: Li
authors: Mingyao
authors: M
authors: Liu
authors: Xiushan
authors: X
authors: Wu
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D003966:Camurati-Engelmann Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D002648:Child; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011859:Radiography; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1