Journal of the Medical Association of Thailand. Vol.96, No.SUPPL.3 (2013), 100-103
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Sathit Niramitmahapanya, Thitinun Anusornvongchai, Sarinee Pingsuthiwong, Veerasak Sarinnapakorn, Chaicharn Deerochanawong, Thongkum Sunthornthepvarakul Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report. Journal of the Medical Association of Thailand. Vol.96, No.SUPPL.3 (2013), 100-103. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/32460
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Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
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.
