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Article

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.

Journal of genetics and genomics = Yi chuan xue bao - 20 Apr 2011

Xu Zhenping, Li Yulei, Zhang Xiangyang, Zeng Fanming, Yuan Mingxiong, Liu Mugen, Wang Qing Kenneth, Liu Jing Yu

Abstract excerpt

Osteogenesis imperfecta (OI, also known as brittle bone disease) is caused mostly by mutations in two type I collagen genes, COL1A1 and COL1A2 encoding the pro-α1 (I) and pro-α2 (I) chains of type I collagen, respectively. Two Chinese families with autosomal dominant OI were identified and characterized. Linkage analysis revealed linkage of both families to COL1A2 on chromosome 7q21.3-q22.1. Mutational analysis...

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PMID: 21530898
DOI: 10.1016/j.jgg.2011.03.002

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