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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
  • View Affiliations / Copyright

    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
    Copyright: © Chen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 235-239
    |
    Published online on: December 12, 2016
       https://doi.org/10.3892/mmr.2016.6024
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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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Copy and paste a formatted citation
Spandidos Publications style
Chen Y, Xie W, Hu F, Chen J, Zheng H, Zhou H, Ni B, Li W and Zhou J: Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. Mol Med Rep 15: 235-239, 2017.
APA
Chen, Y., Xie, W., Hu, F., Chen, J., Zheng, H., Zhou, H. ... Zhou, J. (2017). Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. Molecular Medicine Reports, 15, 235-239. https://doi.org/10.3892/mmr.2016.6024
MLA
Chen, Y., Xie, W., Hu, F., Chen, J., Zheng, H., Zhou, H., Ni, B., Li, W., Zhou, J."Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease". Molecular Medicine Reports 15.1 (2017): 235-239.
Chicago
Chen, Y., Xie, W., Hu, F., Chen, J., Zheng, H., Zhou, H., Ni, B., Li, W., Zhou, J."Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease". Molecular Medicine Reports 15, no. 1 (2017): 235-239. https://doi.org/10.3892/mmr.2016.6024
Copy and paste a formatted citation
x
Spandidos Publications style
Chen Y, Xie W, Hu F, Chen J, Zheng H, Zhou H, Ni B, Li W and Zhou J: Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. Mol Med Rep 15: 235-239, 2017.
APA
Chen, Y., Xie, W., Hu, F., Chen, J., Zheng, H., Zhou, H. ... Zhou, J. (2017). Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. Molecular Medicine Reports, 15, 235-239. https://doi.org/10.3892/mmr.2016.6024
MLA
Chen, Y., Xie, W., Hu, F., Chen, J., Zheng, H., Zhou, H., Ni, B., Li, W., Zhou, J."Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease". Molecular Medicine Reports 15.1 (2017): 235-239.
Chicago
Chen, Y., Xie, W., Hu, F., Chen, J., Zheng, H., Zhou, H., Ni, B., Li, W., Zhou, J."Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease". Molecular Medicine Reports 15, no. 1 (2017): 235-239. https://doi.org/10.3892/mmr.2016.6024
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