Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
Figure 5
Representative examples of iliac bone samples. (a) Haploinsufficiency mutation, in a 4-year-old boy with a c.1981C > T nucleotide change in COL1A1 that creates a stop codon (p.Gln661X). Core width 4.8 mm, cortical width 765 μm, bone volume per tissue volume 12.9%. (b) Helical glycine mutation, 9-year-old boy with a c.1090G > A nucleotide change in COL1A2 that creates an amino acid change (p.Gly364Ser). Core width 4.2 mm, cortical width 449 μm, and bone volume per tissue volume 8.9%, adapted from [11].
