Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Aug;55(8):2097-2107.
doi: 10.1002/ppul.24823. Epub 2020 May 22.

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population

Katarzyna Zybert  1   2 , Lukasz Wozniacki  1   2 , Agnieszka Tomaszewska-Sobczyńska  3   4 , Katarzyna Wertheim-Tysarowska  5 , Kamila Czerska  3 , Mariusz Ołtarzewski  4 , Dorota Sands  1   2
Affiliations
Case Reports

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population

Katarzyna Zybert et al. Pediatr Pulmonol. 2020 Aug.

Abstract

Introduction: More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)-causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, there is an urgent need to determine the mutations that are pathogenic, nonpathogenic, or lead to variable symptoms.

Aim: The aim of the study was to present the clinical characteristics of Polish patients with rare and novel CFTR mutations, with an attempt to determine the pathogenicity status of those variants.

Materials and methods: The group included 13 patients born between September 2006 and May 2019, who underwent CF newborn screening and in whom two CFTR mutations, including at least one rare or a novel mutation, were identified.

Results: We identified 13 patients with mutations in both alleles of the CFTR gene, one of which was at least rare in Polish population (R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A) or was a mutation of unknown clinical consequences (H199R, L468P, A1217E, Q359R, T1036I, W1282R). None of them were described in the CFTR2 database. In all examined patients, sweat tests were elevated. The diagnosed patients presented with a wide spectrum of clinical symptoms. Broad clinical characteristics and test results are presented.

Conclusion: Pathogenic mutations are H199R, L468P, A1217E, Q359R, T1036I, W1282R, R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A. Every patient with a mutation of unknown clinical consequences in one CFTR allele requires attentive follow-up.

Keywords: CFTR; clinical manifestation; cystic fibrosis; newborn screening; pancreatic insufficiency; pancreatitis; rare mutations; sweat chloride.

PubMed Disclaimer

References

REFERENCES

    1. Barben J, Castellani C, Dankert-Roelse J, et al. The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe. J Cyst Fbros. 2017;16(2):207-213.
    1. Castellani C, Duff AJA, Bell SC, et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros. 2018;17(2):153-178.
    1. Smyth AR, Bell SC, Bojcin S, et al. European Cystic Fibrosis Society Standards of Care: best practice guidelines. J Cyst Fibros. 2014;13(suppl 1):S23-S42.
    1. Sobczyńska-Tomaszewska A, Czerska K, Wertheim-Tysarowska K. Diagnostyka molekularna. In: Sands D, ed. Mukowiscydoza choroba wieloukładkowa. Poznań: Termedia. Poznań, Poland: Termedia; 2018.
    1. Cystic Fibrosis Mutation Database (CFTR1). http://www.genet.sickkids.on.ca/StatisticsPage.html. Accessed 2 January 2020.

Publication types

Substances