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 similar to 70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the whole genome sequencing and molecular genetic analysis. The mutation of rs66612022 (COL1A2:p.Gly328Ser) related to glycine substitution was found in the seven patients. Moreover, we identified a novel missense mutation (HMMR:p.Glu2Gln). Interestingly, the individuals of this family with both the mutations were suffering from OI, while the others carried one or none of them are normal. The mutations of COL1A2 and HMMR and their combined effect on OI would further expand the genetic spectrum of OI.
基金：
Yunnan Provincial Science andTechnology Department [2016RA093]; Yunnan Province Project Education Fund [ZD2012006]; NationalNatural Science Foundation ofChinaNational Natural Science Foundation of China [31360270]
第一作者机构：[1]Kunming Univ, Yunnan Key Lab Basic Res Bone & Joint Dis, 2 Puxin Rd, Kunming, Yunnan, Peoples R China[2]Kunming Univ, Yunnan Stem Cell Translat Res Ctr, 2 Puxin Rd, Kunming, Yunnan, Peoples R China
通讯作者：
通讯机构：[1]Kunming Univ, Yunnan Key Lab Basic Res Bone & Joint Dis, 2 Puxin Rd, Kunming, Yunnan, Peoples R China[2]Kunming Univ, Yunnan Stem Cell Translat Res Ctr, 2 Puxin Rd, Kunming, Yunnan, Peoples R China[14]Kunming Univ Sci & Technol, Inst Primate Translat Med, Yunnan Key Lab Primate Biomed Res, 727 Jingming South Rd, Kunming, Yunnan, Peoples R China
推荐引用方式(GB/T 7714)：
Li Yanjiao,Liang Hongsuo,Yuan Dekai,et al.A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing[J].ANNALS OF HUMAN GENETICS.2020,84(4):339-344.doi:10.1111/ahg.12371.
APA：
Li, Yanjiao,Liang, Hongsuo,Yuan, Dekai,Liu, Baoling,Liu, Ling...&Hu, Min.(2020).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,84,(4)
MLA：
Li, Yanjiao,et al."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 84..4(2020):339-344
