The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

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
Mean Age (years) at follow up. (Min-max)	10.5 0.5–28.0
Mean Age (years) at diagnosis. (Min-max)	0.75 0.0–16.0
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 BMI Z-score: ± SD. >18 years old <18 years old	−1.2 −0.7
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)