title: High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
abstract: We have analyzed 143 unrelated Belgian patients with a positive diagnosis of cystic fibrosis (CF) for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. An initial screening for 29 CFTR mutations led to mutation identification in 89.9% of the tested chromosomes. Subsequently an extensive analysis of the CFTR gene was performed by denaturating gradient gel electrophoresis (DGGE) in those patients with at least one unknown mutation after preliminary screening. In addition to 10 previously reported mutations we identified 2 new mutations 186-2A-->G and E588V. A third new mutation 1671insTATCA was identified during routine screening for DeltaF508. Two mutations were detected with a higher frequency than expected: 3272-26A-->G, which is the second most common mutation after DeltaF508 in our CF population with a frequency of 3.8%, and L927P (2.4%). The clinical data is presented for the mutations 186-2A-->G, E588V, 3272-26A-->G and L927P. The mutation data are useful for the Belgian population to supplement the initial screening set of mutations.
authors.affiliation: Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium. katrien.storm@ua.ac.be
authors.forename: Katrien
authors.initials: K
authors.lastname: Storm
authors.forename: Els
authors.initials: E
authors.lastname: Moens
authors.forename: Lieve
authors.initials: L
authors.lastname: Vits
authors.forename: Haike
authors.initials: H
authors.lastname: De Vlieger
authors.forename: Gino
authors.initials: G
authors.lastname: Delaere
authors.forename: Maria
authors.initials: M
authors.lastname: D'Hollander
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Martine
authors.initials: M
authors.lastname: Biervliet
authors.forename: Lutgardis
authors.initials: L
authors.lastname: Van Schil
authors.forename: Kristine
authors.initials: K
authors.lastname: Desager
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D001530:Belgium; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator