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

Nika V Petrova; Nataliya Y Kashirskaya; Tatyana A Vasilyeva; Elenai I Kondratyeva; Andrey V Marakhonov; Milan Macek Jr; Evgeny K Ginter; Sergey I Kutsev; Rena A Zinchenko

doi:10.20883/medical.383

Authors

Nika V Petrova Research Centre for Medical Genetics, Moscow https://orcid.org/0000-0001-5933-6594
Nataliya Y Kashirskaya Research Centre for Medical Genetics, Moscow https://orcid.org/0000-0003-0503-6371
Tatyana A Vasilyeva Research Center for Medical Genetics, Moscow https://orcid.org/0000-0002-6744-0567
Elenai I Kondratyeva Research Center for Medical Genetics, Moscow https://orcid.org/0000-0001-6395-0407
Andrey V Marakhonov Research Center for Medical Genetics, Moscow https://orcid.org/0000-0002-0972-5118
Milan Macek Jr 2nd Faculty of Medicine, Charles University, Prague; Motol University Hospital, Prague https://orcid.org/0000-0002-5173-5280
Evgeny K Ginter Research Center for Medical Genetics, Moscow https://orcid.org/0000-0001-6920-6726
Sergey I Kutsev Research Center for Medical Genetics, Moscow https://orcid.org/0000-0002-3133-8018
Rena A Zinchenko Research Center for Medical Genetics, Moscow; National Institute of Public Health named after N.A. Semashko https://orcid.org/0000-0003-3586-3458

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 N, Kashirskaya N, eds. Cystic fibrosis (Mucoviscidosis). Moscow: Medpractika-M; 2014.

Krasovsky S, Chernyak A, Voronkova A, Amelina E, Kashirskaya N, Kondratyeva E, Gembitskaya T, eds. Cystic Fibrosis Patients Registry in Russian Federation. 2016. Moscow: Medpractika-M; 2018.

Petrova N, Kondratyeva E, Krasovsky S, Polyakov A, Ivachshenko T, Pavlov A, Zinchenko R, Ginter E, Kutsev S, Odinokova O, Nazarenko L, Kapranov N, Amelina E, Asherova I, Gembitskaya T, Ilyenkova N, Karimova I, Merzlova N, Namazova-Baranova L, Neretina A, Nikonova V, Orlov A, Protasova T, Semykin S, Sergienko D, Simonova O, Shabalova L, Kashirskaya N. 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):29-45.

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

Petrova N, Timkovskaya E, Zinchenko R, Ginter E. Analysis of the frequency of some mutations in the CFTR gene in different populations of Russia. Medical Genetics. 2006;5(12):32-9.

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

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander H, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Human Genetics. 1997 Aug 4;100(3-4):365-377. https://doi.org/10.1007/s004390050518

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

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

Exome Aggregation Consortium. http://exac.broadinstitute.org. Accessed 2019 August 20.

ClinVar; [VCV000053905.2]. https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000053905.2. Accessed 2020 March 2.

McGinniss MJ, Buller AM, Quan F, Peng M, Sun W. Cystic Fibrosis Gene Mutations. 2011 Dec 13; US008076078B2 (United States).

Petrova N, Kashirskaya N, Vasilyeva T, Voronkova A, Kondratieva E, Sherman V, Novoselova O, Krasovskiy S, Chernyak A, Amelina E, Ginter E, Kutsev S, Zinchenko R. Phenotypic features in patients with cystic fibrosis with L138ins (p.Leu138dup) mutation. Pediatria. Journal named after G.N. Speransky. 2017 Dec 11;96(6):64-72. https://doi.org/10.24110/0031-403x-2017-96-6-64-72