title: A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta.
abstract: Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a family, in which six individuals are affected with increased bone fragility and blue sclera. Results of exome sequencing revealed a novel 1-bp deletion (c.2329delG, p.A777fs) in exon 33 of the COL1A1 gene in two affected individuals, but not in a control family member without OI. The variation co-segregated with the disease in all the OI patients but not in the unaffected family members. The mutation caused a frameshift alteration after codon 777, leading to premature termination of the COL1A1 protein. Thus, our findings identified a novel frameshift deletion c.2329delG (p.A777fs) in the COL1A1 gene, which is associated with OI type IA in a Chinese family.
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors.forename: N
authors.initials: N
authors.lastname: Fan
authors.affiliation: Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University Heidelberg, Mannheim, Germany.
authors.forename: J B
authors.initials: JB
authors.lastname: Jonas
authors.affiliation: State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: F
authors.initials: F
authors.lastname: He
authors.affiliation: State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: N H
authors.initials: NH
authors.lastname: Yan
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: D L
authors.initials: DL
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Second People's Hospital of Liangshan, Xichang, China.
authors.forename: L
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Department of Pharmaceutical Sciences and North Texas Eye Research Institute, University of North Texas Health Sciences Center, Fort Worth, TX, USA.
authors.forename: I-H
authors.initials: IH
authors.lastname: Pang
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors.forename: X Y
authors.initials: XY
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D003811:Dentinogenesis Imperfecta / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain