The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

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

* Note data from ECFSPR 2019

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)

The new mutations for the Albanian population detected by University Hospital Motol are bolded.

** 2.0 complex alleles S466X-R1070Q

N: number of alleles; %: percentage rounded up to max. 2 digits after the full stop (thus may not add up exactly to 100%).

HGVS – Human Genome Variation Society nomenclature (www.hgvs.org/mutnomen/);

Legacy nomenclature according to the Cystic Fibrosis Mutation Database (www.genet.sickkids.on.ca/app)

Genotype variants and their frequency

[i] N: number of genotypes; %: percentage rounded up to max. 2 digits after the full stop (thus may not add up exactly to 100%).

DOI: https://doi.org/10.2478/bjmg-2024-0004 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160

Language: English

Page range: 31 - 36

Published on: Sep 6, 2024

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Keywords:

Related subjects:

© 2024 I Kasmi, G Kasmi, B Basholli, HS Sefa, E Vevecka, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.