title: Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease.
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.
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Wanqin
authors.initials: W
authors.lastname: Xie
authors.affiliation: Department of Burns and Plastic Surgery, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Feng
authors.initials: F
authors.lastname: Hu
authors.affiliation: Department of Burns and Plastic Surgery, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Jia
authors.initials: J
authors.lastname: Chen
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Hexin
authors.initials: H
authors.lastname: Zheng
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Research Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Bin
authors.initials: B
authors.lastname: Ni
authors.affiliation: Department of Burns and Plastic Surgery, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Wanmeng
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Burns and Plastic Surgery, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Jianda
authors.initials: J
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001842:Bone and Bones / Q000473:pathology; D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1