Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the...

This report describes the biochemical investigations on six patients affected by a moderate form of Osteogenesis Imperfecta (type IV according to the Sillence classification). Biochemical characterization of type I collagen produced by skin fibroblasts showed considerable heterogeneity: in three patients out of six, collagen appeared normal; while in the three others a structural defect in the protein was present. In these probands the mutations were localized in different regions of the triple helix domain (corresponding to peptides alpha 1(I)CB6 and alpha 1(I)CB7). In two probands showing the defect in alpha 1(I)CB7, a decrease of the thermal stability of the protein was present.