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

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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 ( IF 1.9 ) Pub Date : 2019-12-18 , DOI: 10.1111/ahg.12371
Yanjiao Li ₁ , Hongsuo Liang ₂ , Dekai Yuan ₃ , Baoling Liu ₄ , Ling Liu ₅ , Yongfa Zhang ₆ , Kaiyu Hou ₇ , Yunchao Zhang ₈ , Bin Chen ₉ , Jing Ding ₉ , Yunxia Li ₁₀ , Qilin Wang ₁₀ , Haiying Wu ₁₁ , Hong Shi ₁₂ , Min Hu ₁

Affiliation

Yunnan Key laboratory for Basic Research on Bone and Joint Diseases &Yunnan Stem Cell Translational Research Center, Kunming University, Kunming, Yunnan, China.
Joint Surgery Department of the Second People's Hospital of Nanning City, Nanning, Guangxi Zhuang Autonomous Region, China.
Kunming University School of Medicine, Kunming University, Kunming, Yunnan, China.
First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Kunming Children's Hospital, Kunming, Yunnan, China.
The first people's Hospital of Yunnan Province, Kunming, Yunnan, China.
The second people's Hospital of Yunnan Province, Kunming, Yunnan, China.
The third people's Hospital of Yunnan Province, Kunming, Yunnan, China.
Kunming General Hospital of Chengdu Military Command, Kunming, Yunnan, China.
Yunnan Cancer Hospital & The Third Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Yunnan Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.

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 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.

更新日期：2019-12-18

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