Article
A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.
Annals of human genetics - 1 Jul 2020
Li Yanjiao, Liang Hongsuo, Yuan Dekai, Liu Baoling, Liu Ling, Zhang Yongfa, Hou Kaiyu, Zhang Yunchao, Chen Bin, Ding Jing, Li Yunxia, Wang Qilin, Wu Haiying, Shi Hong, Hu Min
Abstract excerpt
Osteogenesis imperfecta (OI) is a rare heritable disease with systemic connective tissue disorder. Most of the patients represent autosomal dominant form of OI, and are usually resulting from the mutations in type I collagen genes. However, the gene mutations reported previously only account for ∼70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the...
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