Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Chen,Yong; Xie,Wanqin; Hu,Feng; Chen,Jia; Zheng,Hexin; Zhou,Haiyan; Ni,Bin; Li,Wanmeng; Zhou,Jianda

doi:10.3892/mmr.2016.6024

Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease

Authors:
- Yong Chen
- Wanqin Xie
- Feng Hu
- Jia Chen
- Hexin Zheng
- Haiyan Zhou
- Bin Ni
- Wanmeng Li
- Jianda Zhou
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Affiliations: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China, Department of Burns and Plastic Surgery, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China
Published online on: December 12, 2016 https://doi.org/10.3892/mmr.2016.6024
Pages: 235-239
Copyright: © Chen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weakness, cortical thickening of the diaphysis of the long bones, and sclerosis of the skull, facial bone, and pelvis. Molecular analysis revealed the presence of the p.Glu169Lys (E169K) mutation in exon 2 of TGFβ1 in patients when compared with the controls. Therefore, the Chinese family was diagnosed with CED due to the presence of the E169K mutation. The present study emphasized the importance of clinical and genetic evidence for the diagnosis of CED. The data presented in the present study are of significance to clinicians, as well as genetic counselors, in the prenatal screening of CED.

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