Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. | Academic Article individual record

A substitution of arginine for glycine at amino acid position 154 of the alpha 1(I) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and III/IV osteogenesis imperfecta, but appears to be milder than that of the previously described two unrelated patients that had the identical mutation in the alpha 1(I) collagen chain. The variability in the phenotype raises the possibility of epistatic loci or environmental effects on expression of the disorder.

author list (cited authors)
Zhuang, J., Tromp, G., Kuivaniemi, H., Castells, S., & Prockop, D. J.
publication date
Wiley Publisher
  • Direct Sequencing Of PCR Products
  • Genetic Variation
  • Polymorphism, Genetic
  • Adult
  • Male
  • Base Sequence
  • Osteogenesis Imperfecta
  • Phenotype Variability
  • Phenotype
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Child, Preschool
  • Collagen
  • Female
  • Single Base Mutation
  • Point Mutation
  • Infant
  • Humans
citation count