Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

Authors

  • Nika V Petrova Research Center for Medical Genetics https://orcid.org/0000-0001-5933-6594
  • Nataliya Y Kashirskaya Research Centre for Medical Genetics https://orcid.org/0000-0003-0503-6371
  • Tatyana A Vasilyeva Research Center for Medical Genetics https://orcid.org/0000-0002-6744-0567
  • Elenai I Kondratyeva Research Center for Medical Genetics
  • Andrey V Marakhonov Research Center for Medical Genetics
  • Milan Macek Jr 2nd Faculty of Medicine of Charles University Prague and Motol University Hospital
  • Evgeny K Ginter Research Center for Medical Genetics
  • Sergey I Kutsev Research Center for Medical Genetics
  • Rena A Zinchenko Research Center for Medical Genetics, National Institute of Public Health named after N.A. Semashko

DOI:

https://doi.org/10.20883/medical.383

Keywords:

cystic fibrosis, L138ins (c.411_412insCTA, p.Leu138dup) mutation, haplotype

Abstract

The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the CFTR gene and is categorised as a small in-frame insertion/deletion. As a result, the CFTR protein molecule elongates by one amino acid residue, leucine, at position 138 (codon 138 (CTA)). In accordance with the new nomenclature, it should be called c.411_412insCTA (p.Leu138dup). The c.411_412insCTA (p.Leu138dup, L138ins) mutation is found in CF patients of Slavic origin (Russians, Ukrainians) and has been linked to a single haplotype of the intragenic DNA markers IVS1CA-IVS6aGATT-IVS8CA-IVS17bCA - 22-7-16-13.

Downloads

Download data is not yet available.

References

Kapranov NI, Kashirskaya NY (eds.). Cystic fibrosis (Mucoviscidosis). Moscow: Publishing House "MEDPRACTIKA‑M"; 2014. p. 672.

Cystic Fibrosis Patients Registry in Russian Federation. 2016. Krasovsky SA, Chernyak AV, Voronkova AY, Amelina EL, Kashirskaya NY, Kondratyeva EI, Gembitskaya TE (eds.). Moscow: ”Medpractika‑M” Publishing House; 2018. p. 64.

Petrova NV, Kondratyeva EI, Krasovsky SA, Polyakov AV, Ivachshenko TE, Pavlov AE, Zinchenko RA, Ginter EK, Kutsev SI, Odinokova ON, Nazarenko LP, Kapranov NI, Sherman VD, Amelina EL, Asherova IK, Gembitskaya TE, Ilyenkova NA, Karimova IP, Merzlova NB, Namazova‑Baranova LS, Neretina AF, Nikonova VS, Orlov AV, Protasova TA, Semykin SY, Sergienko DF, Simonova OI, Shabalova LA, Kashirskaya N.Y. National Consensus Project «Cystic fibrosis: definition, diagnostic criteria, treatment» Section «Genetics of Cystic Fibrosis. Molecular genetic diagnosis of cystic fibrosis». Medical Genetics. 2016;15(11):68–84.

Petrova NV. Analysis of four polymorphisms in CFTR gene in families of cystic fibrosis patients. Medical Genetics. 2006;5(12):27–32.

Petrova NV, Timkovskaya EE, Zinchenko RA, Ginter EK. Analysis of the frequency of some mutations in the CFTR gene in different populations of Russia. Medical Genetics. 2006;5(12):32–39.

Rukavichkin DV. Clinico‑genotypic polymorphism of cystic fibrosis among the population of the Krasnodar Territory: Diss. Cand. Med. Sciences: 03.00.15. Krasnodar; 2007. p. 27.

Dörk T, Dworniczak B, Aulehla‑Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet. 1997 Sep;100(3–4):365–77.

Cystic Fibrosis Mutation Database. URL: http://www.genet.sickkids.on.ca. Accessed 20 Aug 2019.

CFTR2. Clinical and Functional Translation of CFTR. URL: https://www.cftr2.org. Accessed 20 Aug 2019.

ExAC Browser (Beta) | Exome Aggregation Consortium, URL: http://exac.broadinstitute.org. Accessed 20 Aug 2019.

National Center for Biotechnology Information. ClinVar; [VCV000053905.2], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000053905.2 (accessed March 2, 2020).

Matthew J. McGinniss, Arlene M. Buller, Franklin Quan, Mei Peng, Weimin Sun. Cystic Fibrosis Gene Mutations. United States Patent, US008076078B2, Dec. 13, 2011.

Petrova NV, Kashirskaya NY, Vasilyeva TA, Voronkova AY, Kondratieva EI, Sherman VD, Novoselova OG, Krasovskiy SA, Chernyak AV, Amelina EL, Ginter EK, Kutsev SI, Zinchenko RA. Phenotypic features in patients with cystic fibrosis with L138ins (p.Leu138dup) mutation. Pediatria. 2017;96(6):64–72 .

Published

2020-03-31

How to Cite

1.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Kondratyeva EI, Marakhonov AV, Macek Jr M, Ginter EK, Kutsev SI, Zinchenko RA. Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients. JMS [Internet]. 2020Mar.31 [cited 2020May26];89(1):e383. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/383

Issue

Section

Original Papers