Abstract
Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the α2(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 α2(I) collagen chain is region dependent similar to the observations for the α1(I) collagen chain, and that so-called ‘lethal’ and ‘non-lethal’ domains in the α1 and α2 collagen chains do not necessarily correspond.
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Acknowledgements
We are grateful to J.P. Renard and M. Van Thielen for excellent technical assistance. We are endebted to Dr. P. Byers and Dr. A. Lund for permission to report results communicated to the Osteogenesis Imperfecta Mutation Consortium but not yet published. This work was supported by the Fund of Scientific Research, Flanders, Belgium.
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Nuytinck, L., Wettinck, K., Freund, M. et al. Osteogenesis imperfecta Phenotypes Resulting from Serine for Glycine Substitutions in the α2(I) Collagen Chain. Eur J Hum Genet 5, 161–167 (1997). https://doi.org/10.1007/BF03405894
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DOI: https://doi.org/10.1007/BF03405894
