Genotype variants and their frequency
| Genotype variants | Frequency number (N=) | Percentage % |
|---|---|---|
| F508del/F508del | 87 | 75.00 |
| F508del/non F508del | 23 | 19.82 |
| F508del/G85E | 4 | 3.44 |
| F508del/E822X | 3 | 2.58 |
| F508del/621+1G>T | 3 | 2.58 |
| F508del/R1066C | 3 | 2.58 |
| F508del/G1349D | 2 | 1.72 |
| F508del/G542X | 2 | 1.72 |
| F508del/N1303K | 2 | 1.72 |
| F508del/R1070Q | 1 | 0.86 |
| F508del/S466X-R1070Q - in cis | 1 | 0.86 |
| F508del/R1158X | 1 | 0.86 |
| F508del /E831X | 1 | 0.86 |
| non F508del/non F508del | 6 | 5.17 |
| G542X/621+1G>T | 1 | 0.86 |
| G85E/R1158X | 1 | 0.86 |
| G542X/E822X | 1 | 0.86 |
| 621+1G>T/621+1G>T | 1 | 0.86 |
| CFTR dele 2.3/1811+1G->C | 1 | 0.86 |
| S466X-R1070Q in cis / E822X | 1 | 0.86 |
Incidence of Cystic fibrosis in Albania
| Time Period | Birth Rate in Albania | CF cases diagnosed at UHCMT | Incidence |
|---|---|---|---|
| 1992–2017 | 1144138 | 285 | 1:4014 |
Overview data about patient with CF in Albania*
| Year of follow up 2019 | Number (n=) | Percentage (%) |
|---|---|---|
| No. of patients | 133 | 100 |
| Male | 72 | 54.14 |
| Female | 61 | 45.86 |
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| No. of patients <18 years | 115 | 86.47 |
| No. of patients > 18 years | 18 | 13.53 |
| Homozygote for F508del | 87 | 65.41 |
| Compound heterozygous mutation F508del | 23 | 17.29 |
| Non-F508 mutation patients | 6 | 4.51 |
| One determined mutation | 6 | 4.51 |
| Unexamined | 11 | 8.27 |
|
| |
| Mean FEV1 (% predicted) | 89.7 | |
| Chronic S.aureus | 39 | 29.32 |
| Chronic P.aeruginosae | 33 | 24.8 |
| CF liver disease | 54 | 40.60 |
| CF-related diabetes | 6 | 4.51 |
| Pancreatic sufficient cases | 3 | 2.2 |
Allele frequencies in 122 Albanian patients and Classes according to their effect on the synthesis and/or function of the CFTR protein_
| CFTR gene mutations NM_00492.3 Legacy name, coding DNA, protein name | Mutation Type | Class of Mutation | All Alleles N= 244(%) |
|---|---|---|---|
| F508del, c.1521_1523delCTT, p. Phe508del | deletion | II | 203(83.19) |
| 621+1G>T, c.489+1G>T | splicing | I | 6 (2.45) |
| E822X, c.2464G>T, p. Glu822Ter | nonsense | I | 5 (2.04) |
| G85E, c.254G>A, p. Gly85Glu | missense | II | 5 (2.04) |
| G542X (c.1624G>T) p. Gly542Ter | nonsense | I | 4 (1.63) |
| R1066C, c.3196C>T, p. Arg1066Cys | missense | II | 3 (1.22) |
| **R1070Q, c.3209G>A, p. Arg1070Gln | missense | Unclassified | 3 (1.22) |
| R1158X, c.3472C>T, p. Arg1158Ter | nonsense | I | 2 (0.81) |
| G1349D, c.4046G>A p. Gly1349Asp | missense | III | 2 (0.81) |
| N1303K, (c.3909C>G), p. Asn1303Lys | missense | II | 2 (0.81) |
| **S466X, c.1397C>G, p. Ser466Ter | nonsense | I | 2 (0.81) |
| 1811+1G->C, c.1679+1G>C | splicing | V | 1 (0.40) |
| E831X, c.2491G>T, p. Glu831X | nonsense | I | 1 (0.40) |
| CFTRdele2-3(21kb), c.54-5940_273 + 10250 del, p. Ser18Argfs*16 | deletion | I | 1 (0.40) |