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PHENOTYPIC CHARACTERISTICS IN OSTEOGENESIS IMPERFECTA PATIENTS


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Abstract

Osteogenesis imperfecta (OI) is a heterogeneous hereditary disease characterized by low bone density and frequent fractures. There are presented data of molecular genetic study and examination of 45 children with a clinically established diagnosis of types I, III and IV. The aim of investigation. To study the variety of clinical manifestations in OI children with and to compare with the identified genetic mutations in the genes COL1A1 and COL1A2. Materials and methods. The data of molecular genetic research and evaluation of clinical manifestations of 45 children with diagnosis OI of types I, III and IV is presented. Results. In the study, mutations in the genes COL1A1 and COL1A2 were detected in 43 (95.6%). The most of the mutations (74,4%) were found to be localized in the gene COL1A1 (n=32), smaller (25.6%) - in the gene COL1A2 (n=11). Glycine-to-serine substitutions in the Gly-X-Y triplet are the most frequent type of mutation among missense mutations. In children with type I qualitative mutations were found to be less common than in types III and IV (representing clinically severe and moderate, respectively). Conclusion. Majority of OI patients had mutations in the collagen genes. The most frequent mutation was the missense mutation, the most often detected in children with OI type III having a severe course, leading to a qualitative violation of collagen.


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