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

Mol Genet Genomic Med. 2019 Aug;7(8):e696. doi: 10.1002/mgg3.696. Epub 2019 Jun 27.


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 groups proved that BG Roma have a more severe nutritional status and are younger than other CF patients, as well as that the spectrum mutations differs between them.

Conclusion: This collaborative study improves genetic counselling in BG, facilitates introduction of multitier CF neonatal screening and fosters public health measures for improvement of care in the Roma CF population.

Keywords: Bulgaria; Bulgarian Turks; Bulgarians; CFTR gene; Roma; cystic fibrosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Bulgaria / epidemiology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Introns
  • Male
  • Middle Aged
  • Molecular Epidemiology
  • Mutation*
  • Roma
  • Young Adult


  • Cystic Fibrosis Transmembrane Conductance Regulator