title: Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.
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(21kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations.
  
  
  RESULTS
  The Elucigene CF29(Tm) 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.
  
  
  CONCLUSIONS
  We have identified common CF causing mutations in the Hungarian population with the most common mutations (p.Phe508del, p.Asn1303Lys, CFTRdele2,3(21kb), 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.
authors.affiliation: Department of Clinical Biochemistry and Molecular Pathology, University of Debrecen, Hungary.
authors.forename: Gergely
authors.initials: G
authors.lastname: Ivady
authors.forename: Laszlo
authors.initials: L
authors.lastname: Madar
authors.forename: Bela
authors.initials: B
authors.lastname: Nagy
authors.forename: Ferenc
authors.initials: F
authors.lastname: Gonczi
authors.forename: Eva
authors.initials: E
authors.lastname: Ajzner
authors.forename: Erika
authors.initials: E
authors.lastname: Dzsudzsak
authors.forename: Lenka
authors.initials: L
authors.lastname: Dvořáková
authors.forename: Eva
authors.initials: E
authors.lastname: Gombos
authors.forename: Janos
authors.initials: J
authors.lastname: Kappelmayer
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Istvan
authors.initials: I
authors.lastname: Balogh
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D006814:Hungary; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D055815:Young Adult
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA