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Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

Molecular medicine reports - 1 Nov 2016

Zhang Hao, Yue Hua, Wang Chun, Hu Weiwei, Gu Jiemei, He Jinwei, Fu Wenzhen, Hu Yunqiu, Li Miao, Zhang Zhenlin

Abstract excerpt

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by brittle bone fractures. The aim of the present study was to investigate the pathogenic gene mutation spectrum and clinical manifestations of mutations in collagen type I, alpha 1 (COL1A1) and collagen type I, alpha 2 (COL1A2) genes in Chinese patients with OI. A total of 61 unrelated Chinese OI patients with COL1A1 and COL1A2...

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PMID: 27748872
DOI: 10.3892/mmr.2016.5835

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