Sathit NiramitmahapanyaThitinun AnusornvongchaiSarinee PingsuthiwongVeerasak SarinnapakornChaicharn DeerochanawongThongkum SunthornthepvarakulRangsit UniversityMahidol University2018-10-192018-10-192013-03-01Journal of the Medical Association of Thailand. Vol.96, No.SUPPL.3 (2013), 100-103012522082-s2.0-84876902661https://repository.li.mahidol.ac.th/handle/20.500.14594/32460A 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.Mahidol UniversityMedicineArticleSCOPUS