Balkan Journal of Medical Genetics

THE SPECTRUM AND FREQUENCY OF CYSTIC FIBROSIS MUTATIONS IN ALBANIAN PATIENTS
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E
*Corresponding Author: Ass. Prof. Irena Kasmi, Pediatric Clinic, Pediatric Department, University Hospital Center “Mother Teresa”, Tirana, Albania. Address: Street Dibra 372, Tirana, Albania. Tel: + 355 67 2066175, E-mail: irenakasmi@hotmail.com
page: 31

MATERIALS AND METHODS

This retrospective study takes into consideration 133 pediatric patients diagnosed with Cystic Fibrosis followed in the Department of Pediatrics in the UHCMT, during the year (2019) of follow up and who have been included in the European Patient Registry of Cystic Fibrosis. The examination of the CF mutations is conducted over a 25-year period from 1994-2019 for 116 patients at the Center of Molecular Diagnosis and Genetic Research in the University Hospital of Obstetrics and Gynecology “Queen Geraldine”. Whole blood was collected into EDTA anti-coagulant tubes. The genomic DNA was isolated from peripheral blood using Qiagen extraction kit (DNA Blood Isolation Kit, Qiagen, Valencia, California, USA). CFTR gene mutations were analyzed by PCR/OLA protocol (Abbott Applied Biosystems), testing for 33 mutations (Cystic Fibrosis V3 Genotyping Assay). Undetermined samples of 15 cases were sent to the University Hospital Motol, in Prague, Czech Republic as part of the project: GENOTYPING IN UNDERTESTED / UNTESTED CYSTIC FIBROSIS POPULATIONS IN MIDDLE EAST, TRANSCAUCASIA, TURKEY & EASTERN NORTH AFRICA (2015-2019; Vertex grant scheme - CG-2015-104643). Firstly, the most common mutations of the CFTR gene were examined using the commercial Elucigene CF-EU2 kit, where 50 mutations are simultaneously tested (CFTRdele2,3 / 21kb /, I507del, 2789 + 5G> A, E60X, F508del, Q890X, P67L, 1677delTA, 3120 + 1G > A, G85E, V520F, 3272- 26A> G, 394delTT, 1717-1G, A, R1066C, 444delA, G542X, Y1092X (C> A), R117C, S549N, M1101K, R117H, S549R (T> G), D1152H , Y122X, G551D, R1158X, 621 + 1G, T, R553X, R1162X, 711 + 1G, T, R560T, 3659delC, L206W, 1811 + 1.6kbA, G, 3849 + 10kbC, T, 1078delT, 1898 + 1G> A S1251N, R334W, 2143delT, 3905insT, R347P, 2184delA, W1282X, R347H, 2347delG, N1303K, A455E, W846X, including IVS8-T variants (5/7/9) . If just one mutation was detected or both causal mu- tations are not detected, but the patient shows clear clini- cal and laboratory signs, next generation sequencing of the whole coding region of CFTR (NGS CFTR Devyser) was provided. This ensures maximum capture of causal mutations within the diagnostic process we provide. All pathogenic variants were confirmed by Sanger sequencing or MLPA protocol https://www.mlpa.com/. Also, the databases CFTR1 http://www.genet.sick- kids.on.ca/, CFTR2 https://cftr2.org and CLIN Var https:// www.ncbi.nlm.nih.gov/clinvar, were used for clinical interpretation.

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