Pediatric Clinic, University Hospital Alexandrovska, Sofia, Bulgaria.
Pediatric Department, Medical University Sofia, Sofia, Bulgaria.
Mol Genet Genomic Med. 2019 Aug;7(8):e696. doi: 10.1002/mgg3.696. Epub 2019 Jun 27.
The spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond.
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.
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.
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.
囊性纤维化（CF）的 CFTR 基因突变谱和频率在欧洲和其他地区的不同人群中有所不同。
我们在一个由 140 名 CF 患者组成的代表性队列中鉴定了 98.9%的所有 CFTR 突变，其中包括 107 名保加利亚人（BG）、17 名 BG 土耳其人和 16 名 BG 罗姆人。编译的临床和基因型数据集包括 110 名先前分析过的患者，其中 30 名目前通过对整个 CFTR 编码区和相邻内含子进行大规模平行测序以及分析 CFTR 内重排来分析罕见 CFTR 变体。
共观察到 53 种不同的突变，其中 15 种在 BG CF 人群中是新发现的。对个体 BG 族裔群体的临床和实验室数据进行比较证明，BG 罗姆人的营养状况更差，比其他 CF 患者更年轻，而且它们之间的突变谱也不同。
这项合作研究改善了 BG 的遗传咨询，有助于引入多层次 CF 新生儿筛查，并促进公共卫生措施，以改善罗姆人 CF 人群的护理。
