Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online

Hum Mutat. 1999;13(6):503. doi: 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU11>3.0.CO;2-L.


Non-lethal OI III (OMIM 259420) is caused by structural aberrations of collagen I. We report four novel glycine substitutions, one in the a1 (I) chain of collagen I (G688S) and three in the a2 (I) chain (G241D, G247C, G883V). In each of two families (G241D and G883V), we found parental mosaicism for the substitution explaining recurrence and intrafamilial variability of OI. The G247C and the G883V are the most N-terminally and C-terminally, respectively, placed cysteine and valine substitutions reported. The new substitutions add important information to the genotype-phenotype map and in particular the importance of a-chain stoichiometry is underlined. Data regarding the G688S substitution may suggest a different effect of the two a-chains in the development of dentinogenesis imperfecta (DI).

MeSH terms

  • Chromosome Mapping
  • Genotype
  • Humans
  • Mosaicism*
  • Osteogenesis Imperfecta / genetics*
  • Phenotype
  • Point Mutation