Osteogenesis imperfecta

A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta

N. Fan, Jonas, J. B., He, F., Yan, N. H., Wang, Y., Liu, L., Liu, D. L., Zhao, L., Pang, I. - H., and Liu, X. Y., A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta, vol. 14, pp. 15295-15300, 2015.

Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a family, in which six individuals are affected with increased bone fragility and blue sclera.

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta

C. Barbirato, Trancozo, M., Almeida, M. G., Almeida, L. S., Santos, T. O., Duarte, J. C. G., Rebouças, M. R. G. O., Sipolatti, V., Nunes, V. R. R., and Paula, F., Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta, vol. 14, pp. 15848-15858, 2015.

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures. Most cases are caused by autosomal dominant mutations in the type I collagen genes COL1A1 and COL1A2; however, an increasing number of recessive mutations in other genes have been reported. The LEPRE1, CRTAP, and PPIB genes encode proteins that form the P3H1/CRTAP/CypB complex, which is responsible for posttranslational modifications of type I collagen.

Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene

M. V. D. Moraes, Milanez, M., Almada, B. V. P., Sipolatti, V., Rebouças, M. R. G. O., Nunes, V. R. R., Akel, Jr., A. N., Zatz, M., Errera, F. I. V., Louro, I. D., and Paula, F., Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene, vol. 11, pp. 3246-3255, 2012.

Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly by mutations in COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I collagen, respectively. A Brazilian family that showed variable expression of autosomal dominant OI was identified and characterized. Scanning for mutations was carried out using SSCP and DNA sequence analysis.

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