Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
Niramitmahapanya, S.; Anusornvongchai, T.; Pingsuthiwong, S.; Sarinnapakorn, V.; Deerochanawong, C.; Sunthornthepvarakul, T.
Journal of the Medical Association of Thailand 96 Suppl. 3: S100-S103
2013
ISSN/ISBN: 0125-2208 PMID: 23682531 Document Number: 13769
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.