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Genetic Profile of Cystic Fibrosis Patients in Pediatric Clinic, University Sarajevo

Journal: Acta Microbiologica Bulgarica (Vol.38, No. 1)

Publication Date:

Authors : ;

Page : 60-62

Keywords : cystic fibrosis; CFTR gene; lumacaftor; mucoviscidosis;

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This study analyzed the incidence of genetic mutations which cause cystic fibrosis to determine which therapeutic option is viable/the best for the children of Bosnia and Herzegovina. We analyzed the genetic samples of 14 children and we looked for mutations in the CFTR gene. Test results were obtained either from state laboratories or from foreign genetic centers. Out of 14 cases, 8 tested positive for CFTR mutations, while the remaining 6 tested negative. The most common mutation was F508del (6/8). Other mutations found were I507del, G576A, E538X, and CFTRdupe20. Class II mutations were the most common (7/8), and because these mutations can be treated with CFTR correctors like lumacaftor/ivacaftor we believe children of Bosnia and Herzegovina could benefit from donations for this treatment. The negative test results for the CFTR gene in the 6 remaining children imply endemic form of cystic fibrosis, which is not tested for. It is important to provide customized, region-specific testing which includes mutations missed by standard tests.

Last modified: 2022-07-06 14:42:21