Zhang Zeng, Li Mei, He Jin-Wei, Fu Wen-Zhen, Zhang Chang-Qing, Zhang Zhen-Lin
Department of Orthopedic Surgery, Shanghai Jiao Tong University Affliated the Sixth People's Hospital, Shanghai, PR China.
PLoS One. 2013 Aug 20;8(8):e72337. doi: 10.1371/journal.pone.0072337. eCollection 2013.
Osteogenesis imperfecta (OI) type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. The causative mutation, c.-14C>T in the 5'-untranslated region of IFITM5, was recently discovered to be involved in this disease. However, in spite of the little genotypic variability, considerable phenotypic variability has been recognized in two cohorts of patients, the majority of whom were Caucasians. Using exome sequencing, we identified the same heterozygous mutation in four Chinese families with OI type V. This study confirms the molecular cause of OI type V and describes the phenotype of Chinese patients with this disorder. In conclusion, the phenotype of Chinese patients was generally similar to that of Caucasian patients.
Ⅴ型成骨不全症（OI）是一种常染色体显性疾病，其特征为前臂骨间膜钙化、桡骨头脱位、骨骺下干骺端致密线以及增生性骨痂形成。最近发现，IFITM5基因5'-非翻译区的致病突变c.-14C>T与该疾病有关。然而，尽管基因型变异性较小，但在两组患者（其中大多数为白种人）中已认识到存在相当大的表型变异性。通过外显子组测序，我们在四个患有Ⅴ型OI的中国家庭中鉴定出相同的杂合突变。本研究证实了Ⅴ型OI的分子病因，并描述了中国该疾病患者的表型。总之，中国患者的表型与白种人患者总体相似。
