ArticleMolecular genetics & genomic medicine2019
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.International journal of neonatal screening · 2023Article
- Preventable Hazards from in Vitro Fertilization - A Case Series of CF Patients from Bulgaria.Balkan journal of medical genetics : BJMG · 2023Article
- Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.Diagnostics (Basel, Switzerland) · 2022Article
- Article
- Ethnic Differences in the Frequency ofFrontiers in genetics · 2021Article
- Current Status of Newborn Screening in Southeastern Europe.Frontiers in pediatrics · 2021Article
- Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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