journal of biomedical informatics
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Mutation Analysis of the COL1A1 Gene in Czech Patients Affected by Osteogenesis Imperfecta, Type I-IV

Author(s): Lucie Šormová, Ivan Mazura, Ivo Marík

Background: Osteogenesis imperfecta is a worldwide widespread disorder of connective tissue characterized by extensive clinical heterogeneity. The main clinical feature is increased bone fragility due to defective collagen type I production which is encoded by two genes – COL1A1 and COL1A2. Based on clinical, radiological and genetic features there is described 11 forms of the disease. Only the first four types result from the collagen type I mutations. Severity of the disorder ranges from mild to lethal forms.

Objectives and Methods: The aim of this study is the molecular-genetic analysis of COL1A1 gene of 25 Czech patients suffering from the disease named osteogenesis imperfecta, specifically type I-IV, and comparison of clinical pictures of individuals with the same identified mutations.

Results: COL1A1 gene mutations were identified in three of twenty-five Czech OI patients. These individuals come from unrelated families and are affected by osteogenesis imperfecta type IA, III and IVB.

Conclusion: Further molecular-genetic analyses of other patients and their relatives are important for detection of the biggest mutational spectrum necessary for determination of possible genotype phenotype relationship of affected individuals and for comparison the Czech population with others countries.