Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

ABSTRACT:

Background

The spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond.

Methods

We identified 98.9% of all CFTR mutations in a representative cohort of 140 CF patients comprising 107 Bulgarian- (BG), 17 BG Turk-, and 16 BG Roma cases. The compiled clinical and genotype dataset includes 110 previously analyzed patients with 30 cases currently analyzed for rare CFTR variants by massively parallel sequencing of the entire CFTR coding region and adjacent introns combined with the analysis of intra-CFTR rearrangements.

Results

Altogether 53 different mutations, of which 15 newly identified in the BG CF population, were observed. Comparison of clinical and laboratory data between individual BG ethnic g

SUBMITTER: Petrova G 

PROVIDER: S-EPMC6687650 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature