title: [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
abstract: Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.[R74W+R1070W+D1270N] found in trans with a type 1 mutation and associated with clinical diagnosis of cystic fibrosis in a one year-old Moroccan patient. This case underlines the difficulties in counseling patients with uncommon mutations and the necessity of functional studies to evaluate the structure-function relationships, since the association of several variations in cis can dramatically alter CFTR function.
authors.affiliation: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.
authors.forename: Ana
authors.initials: A
authors.lastname: de Prada Merino
authors.forename: Florence Niel
authors.initials: FN
authors.lastname: Bütschi
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bouchardy
authors.forename: Jacques S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: Michael A
authors.initials: MA
authors.lastname: Morris
authors.forename: Gaudenz M
authors.initials: GM
authors.lastname: Hafen
authors.forename: Florence
authors.initials: F
authors.lastname: Fellmann
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009018:Morocco
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator