title: A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.
abstract: Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes.
authors.affiliation: School of Biological Science and Technology, Central South University, Changsha, Hunan, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Peng
authors.forename: Yuhui
authors.initials: Y
authors.lastname: Zhang
authors.forename: Zhigao
authors.initials: Z
authors.lastname: Long
authors.forename: Ding
authors.initials: D
authors.lastname: Zhao
authors.forename: Zhenxin
authors.initials: Z
authors.lastname: Guo
authors.forename: Jinjie
authors.initials: J
authors.lastname: Xue
authors.forename: Zhiguo
authors.initials: Z
authors.lastname: Xie
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Xiong
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Su
authors.forename: Bing
authors.initials: B
authors.lastname: Wang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing; D055815:Young Adult
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain