Substitution of arginine for glycine at position 154 of the 1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation Academic Article uri icon

abstract

  • A substitution of arginine for glycine at amino acid position 154 of the 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 1(I) collagen chain. The variability in the phenotype raises the possibility of epistatic loci or environmental effects on expression of the disorder.

published proceedings

  • American Journal of Medical Genetics

author list (cited authors)

  • Zhuang, J., Tromp, G., Kuivaniemi, H., Castells, S., & Prockop, D. J.

complete list of authors

  • Zhuang, J||Tromp, G||Kuivaniemi, H||Castells, S||Prockop, DJ

publication date

  • January 1996