[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
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.
de Prada Merino
Ana
A
Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.
Bütschi
Florence Niel
FN
Bouchardy
Isabelle
I
Beckmann
Jacques S
JS
Morris
Michael A
MA
Hafen
Gaudenz M
GM
Fellmann
Florence
F
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator