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

RESULTS

Based on the number of pediatric patients diagnosed with CF every year from 1992 to 2017, and the birth rate during the same period [7], the incidence of CF in Albania is 1:4041. It is important to note that this incidence is not en- tirely correct since in the UHCMT, there are also CF patients from Kosovo, or Albanian children born in other countries. We have presented in Table 2 an overview of the demographic as well as the clinical and laboratory char- acteristics of Albanian patients diagnosed at UHCMT who were included in the study, although data on some births are missing. Allele Frequencies. Among the studied group of patients, 116 of 133 patients have two CFTR alleles identified, and 6 patients have only one mutation determined. Although genetic examination was made possible, 11 patients remained unexamined due to their lack of interest in performing this analysis. As shown in Table 3, 14 CFTR mutations were identified from 122 patients, 116 of whom with two CFTR mutations determined and 6 patients with only one mutation determined. The most frequent mutation is F508del with 83.19% (203/244 alleles). F508del mutation is present in 87 homo- zygous patients, 23 patients with heterozygous mutations, and in all 6 patients who have only one known mutation. The second most frequent mutation is 621+1G>T with 2.45% (6/244 alleles), followed by G85E and E822X with 2.04% (5/244 alleles), G542X (1.63%), R1066C (1.22%), R1070Q (1.22%). The mutations R1158X (0.81 %), S466X (0.81%), G1349G (0.81%), N1303K (0.81%), and CFTRdele2,3(21kb) (0.40 %), E831X (0.40 %), do not surpass 1% of the CF patients included. According to their effect on the synthesis and/or func- tion of the CFTR protein, 87.29 % (213/244 alleles) of the mutations pertain to class II with four different mutations, explained by F508del being by far the most frequent muta- tion in this cohort. Following class II, the second most frequent mutation class was class I with 8.60 % (21/244 alleles) and eight dif- ferent mutations. Three mutations are unclassified 1.22% (3/244 alleles).Two mutations belong to class III 0.81% (2/244 alleles). One mutation belongs to class V 0.40% (1/244 alleles). Mutations belonging to class IV and VI were not present in our patients. The mutation classes are presented in Table 3. Only one mutation (1/244 alleles) has a varying clinical expression (consequences) [8]. Genotype Frequencies Table 4 shows the genotypes of the 116 patients for whom the two mutations were identified, as well as their frequency expressed in numbers and percentages. As it is noted from the frequency of genotypes in the Table 3, the most frequent genotype was F508del/ F508del (75%; 87/116) followed by F508del/non F508del genotype (19.82%; 23/116) and non F508del/non F508del (5.17%; 6/116). From 6 patient non F508del/non F508del genotypes resulted six different ones as follows: G542X/621+1G>T (0.86%); G85E/R1158X (0.86%); G542X/ E822X (0.86%); 621+1G>T/621+1G>T (0.86%); CFTR dele 2.3/1811+1G- >C (0.86%); S466X-R1070Q in cis / E822X (0.86%).

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