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Siming Bu

As seen in: Nature
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Articles by Siming Bu

Functional validation using a zebrafish model reclassifies the rare COL1A2 p.Gly418Ala variant as a cause of Osteogenesis Imperfecta

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By Ci Liu, Xuejun Liu, Haiyan Li, Yanqing Li, Wenjuan Liu, Mingming Wang, Jiaming Zhang, Mingyang Cheng, Yuanyuan Shi, Pengtao Zheng, Wenli Wang, Chengshu Wang, Xiuhua Xu, Lili Wang, Guimin Hao, Mengchi Xue, Siming Bu
| Nature Verified
Abstract Osteogenesis imperfecta (OI) is a genetically heterogeneous skeletal dysplasia mainly caused by mutations in the COL1A1 and COL1A2 genes, which encode type I collagen. Here, using whole-exome sequencing(WES), we identified a rare heterozygous missense mutation (c.1253G > C, p.Gly418Ala) in COL1A2 in a Chinese family with recurrent prenatal skeletal dysplasia.
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