A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family |
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Authors: | Peng Hao Zhang Yuhui Long Zhigao Zhao Ding Guo Zhenxin Xue Jinjie Xie Zhiguo Xiong Zhimin Xu Xiaojuan Su Wei Wang Bing Xia Kun Hu Zhengmao |
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Institution: | School of Biological Science and Technology, Central South University, Changsha, Hunan, China. |
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Abstract: | Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. |
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