A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing
| Autor: | Ling Liu, Yongfa Zhang, Baoling Liu, Hong Shi, Yanjiao Li, Qilin Wang, Yunxia Li, Yunchao Zhang, Kaiyu Hou, Min Hu, Bin Chen, Haiying Wu, Dekai Yuan, Jing Ding, Hongsuo Liang |
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| Rok vydání: | 2018 |
| Předmět: |
Male
Connective Tissue Disorder China Mutation Missense Gene mutation Biology medicine.disease_cause Polymorphism Single Nucleotide Collagen Type I Pathogenesis 03 medical and health sciences Asian People Genetics medicine Missense mutation Humans Gene Genetics (clinical) 030304 developmental biology Whole genome sequencing 0303 health sciences Mutation Extracellular Matrix Proteins Whole Genome Sequencing 030305 genetics & heredity Osteogenesis Imperfecta medicine.disease Pedigree Hyaluronan Receptors Osteogenesis imperfecta Female |
| Zdroj: | Annals of human geneticsREFERENCES. 84(4) |
| ISSN: | 1469-1809 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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