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

Molecular Genetics & Genomic Medicine

Jana Hrbková¹  Malgorzata Libik¹  Milan Macek Jr.¹  Guergana Petrova²  Nadezhda Yaneva³  Alexey Savov³ 

[1] Department of Biology and Medical Genetics University Hospital Motol Prague Czech Republic;Pediatric Clinic, University Hospital Alexandrovska Sofia Bulgaria;University Specialized Hospital for Active Treatment in Obstetrics and Gynecology, 'Maichin dom', National Genetic Laboratory Sofia Bulgaria;

关键词: Bulgaria;    Bulgarians;    Bulgarian Turks;    cystic fibrosis;    CFTR gene;    Roma;   

DOI  :  10.1002/mgg3.696

来源: DOAJ

【 摘 要 】

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 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.

【 授权许可】

Unknown