Abstract
BackgroundThe spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond.MethodsWe 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.ResultsAltogether 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.ConclusionThis 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.
Highlights
IntroductionCystic fibrosis (CF; MIM# 219700) is an autosomal recessive rare disease caused by CF‐causing variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR; MIM#602421)
Cystic fibrosis (CF; MIM# 219700) is an autosomal recessive rare disease caused by CF‐causing variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR; MIM#602421)
This study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 140 unrelated Bulgarian CF patients originating from all regions of the country (Figure 1)
Summary
Cystic fibrosis (CF; MIM# 219700) is an autosomal recessive rare disease caused by CF‐causing variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR; MIM#602421). In 2017 this estimate was substantiated by 20 newly clinically diagnosed cases in a total of 64,359 live births (data from the national BG CF registry/ BGCFR/; this study). The updated at birth prevalence of CF is likely not accurate since BG has so far not implemented a nationwide cystic fibrosis neonatal screening. The spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond. 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
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