Distribution of CFTR mutations in Eastern Hungarians

Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

Gergely Ivady, Laszlo Madar, Bela Nagy, Ferenc Gonczi, E. Ajzner, Erika Dzsudzsak, Lenka Dvořáková, Eva Gombos, J. Kappelmayer, Milan Macek, I. Balogh

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background: The aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora. Methods: We utilized the recommended "cascade" CFTR mutation screening approach, initially using a commercial assay, followed by examination of the common "Slavic" deletion CFTRdele2,3(21. kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations. Results: The Elucigene CF29Tm v2 assay detected 81.25% of all CF causing mutations. An addition of the CFTRdele2,3(21kb) increased the mutation detection rate to 86.25%. DNA sequencing enabled us to identify mutations on 79/80 CF alleles. Mutations [CFTRdele2,3(21kb), p.Gln685ThrfsX4 (2184insA) were found at an unusually high frequency, each comprising 5.00% of all CF alleles. Conclusion: We have identified common CF causing mutations in the Hungarian population with the most common mutations (p.Phe508del, p.Asn1303Lys, CFTRdele2,3(21. kb), 2184insA, p.Gly542X, and p.Leu101X), comprising over 93.75% of all CF alleles. Obtained data are applicable to the improvement of DNA diagnostics in Hungary and beyond, and are the necessary prerequisite for the introduction of a nationwide "two tier" CF newborn screening program.

Original languageEnglish
Pages (from-to)217-220
Number of pages4
JournalJournal of Cystic Fibrosis
Volume10
Issue number3
DOIs
Publication statusPublished - May 2011

Fingerprint

Genetic Testing
Cystic Fibrosis
Newborn Infant
Mutation
Hungary
Alleles
Mutation Rate
DNA Sequence Analysis
Population
DNA
Genes

Keywords

  • 2184insA
  • CFTRdele2,3(21kb)
  • Cystic fibrosis
  • DNA diagnostics
  • Eastern Hungarians
  • Hungary
  • Newborn screening

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

Distribution of CFTR mutations in Eastern Hungarians : Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. / Ivady, Gergely; Madar, Laszlo; Nagy, Bela; Gonczi, Ferenc; Ajzner, E.; Dzsudzsak, Erika; Dvořáková, Lenka; Gombos, Eva; Kappelmayer, J.; Macek, Milan; Balogh, I.

In: Journal of Cystic Fibrosis, Vol. 10, No. 3, 05.2011, p. 217-220.

Research output: Contribution to journalArticle

Ivady, Gergely ; Madar, Laszlo ; Nagy, Bela ; Gonczi, Ferenc ; Ajzner, E. ; Dzsudzsak, Erika ; Dvořáková, Lenka ; Gombos, Eva ; Kappelmayer, J. ; Macek, Milan ; Balogh, I. / Distribution of CFTR mutations in Eastern Hungarians : Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. In: Journal of Cystic Fibrosis. 2011 ; Vol. 10, No. 3. pp. 217-220.
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AU - Ivady, Gergely

AU - Madar, Laszlo

AU - Nagy, Bela

AU - Gonczi, Ferenc

AU - Ajzner, E.

AU - Dzsudzsak, Erika

AU - Dvořáková, Lenka

AU - Gombos, Eva

AU - Kappelmayer, J.

AU - Macek, Milan

AU - Balogh, I.

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