title: Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report.
abstract: A 22-year-old Thai man with blue sclera, normal height and absence of deformity sustained an open fracture at the right talus and talo-navicular dislocation while playing in a volleyball match. The patient had a history of several fractures of his elbows, wrists and ankles from minor impacts. Novel COL1A1 nonsense mutation (c. 3202 C-->T), a C to T transition at position 3,203, resulting in arginine to stop codon at codon 1026 (R102 6X) mutation in exon 42 was found, and this is the first case reported in the literature.
authors.affiliation: Department of Medicine, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand. Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. maisathit@hotmail.com
authors.forename: Sathit
authors.initials: S
authors.lastname: Niramitmahapanya
authors.forename: Thitinun
authors.initials: T
authors.lastname: Anusornvongchai
authors.forename: Sarinee
authors.initials: S
authors.lastname: Pingsuthiwong
authors.forename: Veerasak
authors.initials: V
authors.lastname: Sarinnapakorn
authors.forename: Chaicharn
authors.initials: C
authors.lastname: Deerochanawong
authors.forename: Thongkum
authors.initials: T
authors.lastname: Sunthornthepvarakul
mesh_terms: D003062:Codon; D018389:Codon, Nonsense; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D050723:Fractures, Bone / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000628:therapy; D055815:Young Adult
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain