Naslov
Cystic fibrosis mutations in Croatian patients

Autori
Gjergja, Romana ; Barišić, Ingeborg ; Hećimović, Silva ; Tanacković, Goranka ; Sertić, Jadranka ; Knežević, Jadranka ; Pavelić, Krešimir

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
The secnond European-American intensive course in clinical and forensic genetics / Primorac, Dragan - Zagreb, 2001, 99-99

Skup
The secnond European-American intensive course in clinical and forensic genetics

Mjesto i datum
Dubrovnik, Hrvatska, 03.09.2001. - 14.09.2001

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
cystic fibrosis; mutations; Croatia

Sažetak
Background: The frequency of cystic fibrosis (CF) causing mutations varies amnog different ethnic groups and geographical regions around the world. The mutations present within a particular population need to be defined in order to provide meaningful carrier screening and testing for rare mutations in affected individuals. Aim: To determine the frequency of common CFTR mutations in Croatian cystic fibrosis patients in order to develop a practical CF mutation panel that can provide maximal information for our population. We also want to analyze the correlation between the genotypes which have been identified and the main clinical features in order to add some new information to the classification of CF mutations. Methods: We have screened 44 CF patients attending Childrens University Hospital Zagreb for 16 relatively common mutations: DF508, I507, B542X, G551D, W1282X, 390insT, N1303K, 3849*10kbC-T, R553X, 621*1G-T, R1162X, 1717-1G-A, 2789+5G-A, 3849+4A-G, 1898+1G-A, R117H. Genotype was compared with clinical and laboratory data. Results: Eight mutations: DF508 (61.4%), R117H (4.5%), G542X (3.4%), 1717-1G-A (3.4%), N1303K (2, 3%), G85E (2, 3%), R1162X (1, 1%) and 621+1G<T (1.1%) - were found to account for 78.5% of the CF alleles in Croatian patients. Sixteen (36%) were homozygous for DF508, with severe phenotype and pancreatic insufficiency (PI). Three compound heterozygotes for G542X and one for 1717-1G-A had severe form of the disease, while one patient heterozygous for 621+1G>T was pancreatic sufficient (PS). All heterozygotes for R1162X, N1303K and G85E presented with PI. Two DF508/R117H patients had serious clinical course, but one patient had mild phenotype. From nine DF508/N patients, six were PS. Four N/N patients had severe pulmonary disease without pancreatic invovement. The CFTR gene analysis demonstrated the notable heterogeneity of our CF population, which could be explained by the strong influence of the genetic pool from other southern European countries. A carrier-screening program shoud be postponed until reaching a proportion of at least 90% of known CF alleles. Further studies are necessary to identify other common and uncommon mutations in our population and to better delineate genotype/pheotype correlations. This will enable more accurate genetic counseling in Croatian CF families.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA