期刊
MOLECULAR MEDICINE REPORTS
卷 15, 期 1, 页码 235-239出版社
SPANDIDOS PUBL LTD
DOI: 10.3892/mmr.2016.6024
关键词
Camurati-Engelmann disease; diagnosis; TGF beta 1; mutation; genetic counseling
资金
- Science and Technology Project of Hunan Province [2015JC3127]
- Health and Family Planning Commission of Hunan Province [B2016083, C2016038]
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor beta 1 (TGF beta 1). 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.Glul69Lys (E169K) mutation in exon 2 of TGF beta 1 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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