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Updated: May 11, 2026
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
Sathit Niramitmahapanya1, Thitinun Anusornvongchai, Sarinee Pingsuthiwong
1Department 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
Abstract:
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.
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