Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report

J Med Assoc Thai. 2013 Mar:96 Suppl 3:S100-3.

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.

Publication types

  • Case Reports

MeSH terms

  • Codon
  • Codon, Nonsense
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Fractures, Bone / genetics
  • Fractures, Bone / surgery
  • Humans
  • Male
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / therapy
  • Young Adult

Substances

  • Codon
  • Codon, Nonsense
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain