title: Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?
abstract: The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.
authors.affiliation: Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest.
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: M P
authors.initials: MP
authors.lastname: Audrezet
authors.forename: M G
authors.initials: MG
authors.lastname: Le Roux
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: J P
authors.initials: JP
authors.lastname: Moisan
authors.forename: C
authors.initials: C
authors.lastname: Ferec
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator