Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
Figure 1
Relationship between the positions of glycine substitutions in the triple helical domain of type I collagen and height z-scores in α1 chain of collagen I (a) and α2 chain of collagen I (b). The oblique solid line in B represents the regression line between the position of serine substitutions in α2 chain of collagen I and height (r = −0.73, P < 0.001; Spearman’s rank correlation). The oblique dashed line in (b) represents the regression line between the position of aspartate substitutions in α2 chain of collagen I and height (r = −0.75, P < 0.001). A mutation closer to the carboxy-terminal end of the triple helical domain of alpha 2 chain had a more detrimental effect on height (b). No such correlation was observed in the alpha 1 chain (a), adapted with some modification from [11].
