Novel COL1A1 Gene Mutation (R1026X) of Type I Osteogenesis Imperfecta: A First Case Report
Sathit Niramitmahapanya MD*, Thitinun Anusornvongchai MD*, Sarinee Pingsuthiwong MSc**, Veerasak Sarinnapakorn MD*, Chaicharn Deerochanawong MD*, Thongkum Sunthornthepvarakul MD*
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
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 (R1026X) mutation in exon 42 was found, and this is the first case reported in the literature.
Keywords : Osteogenesis imperfect (OI), COL1A1 nonsense mutation, Thai
