• Main page
• About the journal
• Editorial board
• Subscription
• Information for contributors
• Editorial and Peer Review
• Issues archive
• Authors
• Articles
  • By alphabet
  • By category
• Blogs and comments

The journal is included into The list of leading scientific periodicals.

The journal is included into VINITI database and is registered in Electronic scientific library.

The journal is indexed by SCOPUS, Ulrich's International Periodicals Directory.

EBSCO

https://doi.org/10.14300/mnnc.2020.15043

Features of spectrum of pathogenic genetic variants of the CFTR gene in patients with cystic fibrosis from Krasnoyarsk territory

[Cystic fibrosis]
Natalia Anatolievna Ilyenkova; Vladimir Viktorovich Chikunov; Elena Ivanovna Kondratieva;

The frequency of genetically significant mutations of the CFTR gene in different populations varies. The study examined the characteristics and diversity of the spectrum of pathogenic variants of the CFTR gene (ABCC7) in patients with CF 88 patients with CF in the Krasnoyarsk Territory. 19 pathogenic genetic variants of the CFTR gene were identified. The total share of 8 genetic variants: c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.3909C>G (N1303K), c.2012delT (2143delT), c.2052_2053insA (2184insA), c.262_263delTT (394delTT), с.3484c>t (r1162x), с.(273+1_274-1)_(1679+1_1680-1)del (CFTRdele4-10) – is 76.68 %. Nine rare variants were detected once and in two cases twice. Thus, a variety of pathogenic variants of the CFTR gene sequence was revealed in CF patients in the Krasnoyarsk Territory, with a determination of the spectrum, their frequency of occurrence and distribution, depending on class and type.

Download

References:
1. Strausbaugh S. D., Davis P. B. Cystic fibrosis: a review of epidemiology and pathobiology. Clin. Chest Med. 2007;(28):279-288. https://doi.org/10.1016/j.ccm.2007.02.011
2. EXAC The Exome Aggregation Consortium (Exac) Database. Available at: https://macarthurlab.org/2014/11/18/a-guide-to-the-exome-aggregationconsortium-exac-data-set. Accessed March 02, 2020.
3. De Boeck K., Vermeulen F., Dupont L. The diagnosis of cystic fibrosis. Presse Medicale. 2017;46(6Pt2):97-108. https://doi.org/10.1016/j.lpm.2017.04.010
4. Регистр больных муковисцидозом в Российской Федерации. 2017 год. Под ред. А. Ю. Воронковой, Е. Л. Амелиной, Н. Ю. Каширской, Е. И. Кондратьевой, С. А. Красовского [и др.]. М.: «МЕДПРАКТИКА-М», 2019.
5. Krasovskiy S., Cherniak A., Kashirskaya N., Kondratyeva E., Amelina E. [et al.]. Features of the clinical course of cystic fibrosis due to the severity of the genotype (according to the Cystic Fibrosis Patient Registry of the Russian Federation (2017)). J. Cystic Fibrosis. 2019;1(18):58-59.
6. Ilenkova N. A., Chikunov V. V. Dynamics of life expectancy of patients with cystic fibrosis in Krasnoyarsk region: a retrospective analysis of 1998-2016. Pediatriya. Zhurnal im. G. N. Speranskogo. – Pediatrics. Journal of Pediatrics. G. N. Speransky. 2017;(2):163-167. (In Russ.).
7. Petrova N. V., Kondratyeva E. I., Krasovsky S. A., Polyakov A. V., Ivashchenko T. E. [et al.]. National Consensus Project Cystic fibrosis: definition, diagnostic criteria, treatment Section Genetics of Cystic Fibrosis. Molecular genetic diagnosis of cystic fibrosis. Medicinskaya genetika. – Medical Genetics. 2016;11(173):29-45. (In Russ.).
8. Richards S., Aziz N., Bale S., Bick D., Das S. [et al.]. Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American. College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 2015;17(5):405-424. https://doi.org/10.1038/gim.2015.30
9. Ryzhkova O. P., Kardimon O. L., Prohorchuk E. B., Konovalov F. A., Maslennikov A. B. [et al]. Guidelines for the interpretation of massive sequencing variants. Medicinskaya genetika. – Medical Genetics. 2017;(7):4-17. (In Russ.).
10. Clinical and Functional Translation of CFTR (CFTR2). Available at: https://cftr2.org. Accessed September 02, 2020.

Keywords: cystic fibrosis, CFTR gene, Krasnoyarsk region, children, molecular diagnostic