title: Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
abstract: BACKGROUND
  This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic.
  
  
  METHODS
  We examined the most common CF-causing mutations using the Elucigene CF-EU2v1™ assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions.
  
  
  RESULTS
  We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed.
  
  
  CONCLUSIONS
  The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American "Bohemian diaspora".
authors.affiliation: Department of Biology and Medical Genetics, 2nd Faculty of Medicine of Charles University Prague and University Hospital Motol, Prague, Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Křenková
authors.forename: Tereza
authors.initials: T
authors.lastname: Piskáčková
authors.forename: Andrea
authors.initials: A
authors.lastname: Holubová
authors.forename: Miroslava
authors.initials: M
authors.lastname: Balaščaková
authors.forename: Veronika
authors.initials: V
authors.lastname: Krulišová
authors.forename: Jana
authors.initials: J
authors.lastname: Čamajová
authors.forename: Marek
authors.initials: M
authors.lastname: Turnovec
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Libik
authors.forename: Patricia
authors.initials: P
authors.lastname: Norambuena
authors.forename: Alexandra
authors.initials: A
authors.lastname: Štambergová
authors.forename: Lenka
authors.initials: L
authors.lastname: Dvořáková
authors.forename: Veronika
authors.initials: V
authors.lastname: Skalická
authors.forename: Jana
authors.initials: J
authors.lastname: Bartošová
authors.forename: Tereza
authors.initials: T
authors.lastname: Kučerová
authors.forename: Libor
authors.initials: L
authors.lastname: Fila
authors.forename: Dana
authors.initials: D
authors.lastname: Zemková
authors.forename: Věra
authors.initials: V
authors.lastname: Vávrová
authors.forename: Monika
authors.initials: M
authors.lastname: Koudová
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Alice
authors.initials: A
authors.lastname: Krebsová
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D019411:Clinical Laboratory Techniques; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018153:Czech Republic; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: AT; Austrian/Austria; CE; CF; CFTR; CZ; Central Europe; Cystic Fibrosis; Cystic fibrosis; Czech Republic; Czech Republic/Czech; DE; De novo CFTR mutation; German/Germany; HU; Hungarian/Hungary; MLPA; NBS; Newborn screening; PL; Polish/Poland; SK; Slovak/Slovakia; UK; USA; United Kingdom; United States of America; cystic fibrosis transmembrane conductance regulator gene; multiplex ligation-dependent probe amplification; newborn screening