Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain

Eur J Hum Genet. May-Jun 1997;5(3):161-7.

Abstract

Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. The data are compared to other serine substitutions in collagen type I. Findings show that the phenotypic severity of serine for glycine substitutions in the alpha2(I) collagen chain is region dependent similar to the observations for the alpha1(I) collagen chain, and that so-called 'lethal' and 'non-lethal' domains in the alpha1 and alpha2 collagen chains do not necessarily correspond.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen / genetics*
  • Collagen / metabolism
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Glycine* / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Osteogenesis Imperfecta / diagnostic imaging
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / pathology
  • Peptide Mapping
  • Phenotype
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Pregnancy
  • Prenatal Diagnosis
  • RNA / analysis
  • Radiography
  • Serine* / genetics

Substances

  • Serine
  • RNA
  • Collagen
  • Glycine