of the North Caucasus
Series ПИ #ФС 77-26521.
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ISSN 2073-8137
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Phenotypic manifestations of four newly identified mutations of the CFTR gene
[Cystic fibrosis]
Anastasia Vasilievna Goryainova; Stanislav Aleksandrovich Krasovsky; Sergey Yurievich Semykin; Andrey Evgenievich Donnikov;
The paper presents the clinical characteristics and description of phenotype of children with cystic fibrosis, as well as new genetic variants in the CFTR gene, identified as a result of NGS sequencing.
References:
1. The register of patients with cystic fibrosis in the Russian Federation. 2017 year. Ed. by Voronkova A. Yu., Amelina E. L., Kashirskaya N. Yu. [et al.]. M.: MEDPRAKTIKA-M, 2019. (In Russ.).
2. Zolin A., Orenti A., Naehrlich L.,van Rens J. [et al.]. ECFSPR European Cystic Fibrosis Society Patient Registry Annual data report (year 2017) version 1.2019. Available at: https://www.ecfs.eu/projects/ecfs-patient-registry/annual-reports. Accessed January 19, 2020.
3. Farrell P. M., White T. B., Ren C. L., Hempstead S. E., Accurso F. [et al.]. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J. Pediatr. 2017;181:4-15. https://doi.org/10.1016/j.jpeds.2016.09.064
4. Bombieri C., Claustres M., De Boeck K., Derichs N., Dodge J. [et al.]. Recommendations for the classification of diseases as CFTR-related disorders. J. Cystic Fibros. 2011;10(Suppl2):86-102. https://doi.org/10.1016/S1569-1993(11)60014-3
5. Kiesewetter S., Macek M. Jr., Davis C., Curristin S. M., Chu C. S. [et al.]. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat. Genet. 1993;5(3):274-327. https://doi.org/10.1038/ng1193-274
6. Marshall B., Faro A., Elbert A., Fink A., Sewall A. [et al.]. Cystic Fibrosis Foundation Patient Registry Annual Data Report 2018. Available at: https://www.cff.org/Research/Researcher-Resources/Patient-Registry/2018-Patient-Registry-Annual-Data-Report.pdf. Accessed August
3, 2019.
Keywords: cystic fibrosis, CFTR mutations, gene sequencing, targeted therapy
Founders:
Stavropol State Medical Academy
Pyatigorsk State Research Institute of Balneotherapeutics
Pyatigorsk State Pharmaceutical Academy