Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report.
| Substance Nomenclature: | 0 (Codon) 0 (Codon, Nonsense) 0 (Collagen Type I) 0 (Collagen Type I, alpha 1 Chain) |
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| Entry Date(s): | Date Created: 20130521 Date Completed: 20130712 Latest Revision: 20211203 |
| Update Code: | 20231215 |
| PMID: | 23682531 |
| Autor: | Niramitmahapanya S; 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, Anusornvongchai T, Pingsuthiwong S, Sarinnapakorn V, Deerochanawong C, Sunthornthepvarakul T |
| Jazyk: | angličtina |
| Zdroj: | Journal of the Medical Association of Thailand = Chotmaihet thangphaet [J Med Assoc Thai] 2013 Mar; Vol. 96 Suppl 3, pp. S100-3. |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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