Cystic Fibrosis Polymorphic Variants in a Russian Population

References

• Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015;16(1):45–56. doi:10.1038/nrg384925404111
   PubMed Web of Science ®Google Scholar
• Ellsworth RE, Jamison DC, Touchman JW, et al. Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc Natl Acad Sci U S A. 2000;97(3):1172–1177. doi:10.1073/pnas.97.3.117210655503
   PubMed Web of Science ®Google Scholar
• Miller AC, Comellas AP, Hornick DB, et al. Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proc Natl Acad Sci U S A. 2020;117(3):1621–16217. doi:10.1073/pnas.191491211731882447
   PubMed Web of Science ®Google Scholar
• The Clinical and Functional TRanslation of CFTR (CFTR2). CFTR2 variant list history. Available from: https://cftr2.org/mutations_history. Accessed 825, 2020.
   Google Scholar
• Marson FA, Bertuzzo CS, Ribeiro JD. Classification of CFTR mutation classes. Lancet Respir Med. 2016;4(8):e37–38. doi:10.1016/S2213-2600(16)30188-627377414
   PubMed Web of Science ®Google Scholar
• Kapranov NI, Kondratyeva EI, Kashirskaya N История изучения муковисцидоза в России [The history of the study of cystic fibrosis in Russia]. Abstracts of ХIII National congress with international participation «Innovative achievements in diagnostics and therapy of cystic fibrosis», 2017; 2–9.
   Google Scholar
• Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet. 2019;20(9):549–561. doi:10.1038/s41576-019-0134-231142809
   PubMed Web of Science ®Google Scholar
• AYu V, Amelina EL, NYu K, et al. eds. Регистр Больных Муковисцидозом В Российской Федерации [Register of Cystic Fibrosis Patients in the Russian Federation. 2017 Year]. ID«Medpraktika-M»: 2019 68.
   Google Scholar
• Research Organizing Committee of the ESSE-RF project. Эпидемиология сердечно-сосудистых заболеваний в различных регионах России (ЭССЕ-РФ). Обоснование и дизайн исследования [Epidemiology of cardiovascular diseases in different regions of Russia (ESSE-RF). The rationale for and design of the study]. Prev Med. 2013;6:25–34.
   Google Scholar
• Kish L. Survey Sampling. New York: John Wiley and Sons; 1965.
   Google Scholar
• Federal state statistic service for the Vologda region. Available from: https://vologdastat.gks.ru/folder/31540. Accessed 825, 2020.
   Google Scholar
• Abramov DD, Kadochnikova VV, Yakimova EG, et al. Высокая частота носительства в российской популяции мутаций гена CFTR, ассоциированных с муковисцидозом, и мутаций гена PAH, ассоциированных с фенилкетонурией [High carrier frequency of CFTR gene mutations associated with cystic fibrosis, and PAH gene mutations associated with phenylketonuria in the Russian population]. Bull Russ State Med Univ. 2015;4:32–35.
   Google Scholar
• Stepanova AA, Krasovsky SA, Polyakov AV. Reliability of the search for 19 common mutations in the CFTR gene in Russian cystic fibrosis patients and the calculated frequency of the disease in Russian Federation. Russ J Gen. 2016;52(2):204–213. doi:10.1134/S1022795416010130
   Web of Science ®Google Scholar
• Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–443.32461654
   PubMed Web of Science ®Google Scholar
• Barbitoff YA, Skitchenko RK, Poleshchuk OI, et al. Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. Mol Genet Genomic Med. 2019;7(11):e964. doi:10.1002/mgg3.96431482689
   PubMed Web of Science ®Google Scholar
• Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat. 1997;10(2):135–154. doi:10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J9259197
   PubMed Web of Science ®Google Scholar
• Kere J, Estivill X, Chillón M, et al. Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum Genet. 1994;93(2):162–166. doi:10.1007/BF002106037509311
   PubMed Web of Science ®Google Scholar
• Strandvik B, Björck E, Fallström M, et al. Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations. Genet Test. 2001;5(3):235–242. doi:10.1089/1090657015274229011788090
   PubMedGoogle Scholar
• Picci L, Cameran M, Marangon O, et al. A 10-year large-scale cystic fibrosis carrier screening in the Italian population. J Cyst Fibros. 2010;9(1):29–35. doi:10.1016/j.jcf.2009.10.00319897426
   PubMed Web of Science ®Google Scholar
• Strom CM, Crossley B, Buller-Buerkle A, et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med. 2011;13(2):166–172. doi:10.1097/GIM.0b013e3181fa24c421068670
   PubMed Web of Science ®Google Scholar
• Zvereff VV, Faruki H, Edwards M, Friedman KJ. Cystic fibrosis carrier screening in a North American population. Genet Med. 2014;16(7):539–546. doi:10.1038/gim.2013.18824357848
   PubMed Web of Science ®Google Scholar
• Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018;20(5):513–523. doi:10.1038/gim.2017.13429261177
   PubMed Web of Science ®Google Scholar
• Tcybakova NY, Sokolenko AP, Iyevleva AG, Suspitsin EN, Imyanitov EN. Анализ встречаемости повторяющихся мутаций в генах BRCA1, CHEK2, NBS1, CFTR, PAH и СX26 у здоровых жительниц Санкт-Петербурга [BRCA1, CHEK2, NBS1, CFTR, PAH and СX26 founder mutations in healthy female residents of St. Petersburg]. Rossiyskiy Biomeditsinskiy Zhurnal. 2011;12(4):1329–1341.
   Google Scholar
• Gurina IV. Частота выявления мутации del f 508 гена муковисцидоза в популяции города Новосибирска и ее связь с различными видами патологии [Frequency of reveality of del F 508 mutation of cystic fibrosis gene in Novosibirsk population and its relation with different pathologies]. Siberian Sci Med J. 2006;4:141–142.
   Google Scholar
• Petrova NV, Timkovskaya EE, Zinchenko RA, Ginter EK. Анализ частоты некоторых мутаций в гене CFTR в разных популяциях России [The analysis of CFTR mutation frequencies in different populations of Russia]. Med Gen. 2006;5(2):28–31.
   Google Scholar
• Zolin A, Orenti A, Naehrlich L, et al., 2019 ECFSPR annual report; 2017 Available from: https://www.ecfs.eu/sites/default/files/general-content-images/working-groups/ecfs-patient-registry/ECFSPR_Report2017_v1.3.pdf. Accessed 825, 2020.
   Google Scholar
• Sosnay PR, Raraigh KS, Gibson RL. Molecular genetics of cystic fibrosis transmembrane conductance regulator: genotype and phenotype. Pediatr Clin North Am. 2016;63(4):585–598. doi:10.1016/j.pcl.2016.04.00227469177
   PubMed Web of Science ®Google Scholar
• Boussaroque A, Audrézet MP, Raynal C, et al. Penetrance is a critical parameter for assessing the disease liability of CFTR variants. J Cyst Fibros. 2020. doi:10.1016/j.jcf.2020.03.019
   Web of Science ®Google Scholar
• Dörk T, Macek Jr M, Mekus F, et al. Characterization of a novel 21-kb deletion, CFTRdele2, 3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet. 2000;106(3):259–268. doi:10.1007/s00439000024610798353
   PubMed Web of Science ®Google Scholar
• Thauvin-Robinet C, Munck A, Huet F, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet. 2009;46(11):752–758.19880712
   PubMed Web of Science ®Google Scholar