title: Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.
abstract: The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in CF is of 84 bp in exon 13, which corresponds to the regulatory (R) domain of the CF transmembrane conductance regulator (CFTR) protein. We have analysed 340 Spanish CF patients for this deletion, named 1949del84, and found three further compound heterozygous patients for mutations 1949del84 and delta F508, and one for 1949del84 and an unknown mutation. Evaluation of the clinical data in these patients suggests that this in-frame deletion, when associated with delta F508, has a similar disease severity to that of delta F508 homozygous patients.
authors.affiliation: Molecular Genetics Department, Hospital Duran i Reynals, Catalunya, Spain.
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: A
authors.initials: A
authors.lastname: Gaona
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
authors.forename: J
authors.initials: J
authors.lastname: Ferrer-Calvete
authors.forename: J
authors.initials: J
authors.lastname: Pérez-Frias
authors.forename: E
authors.initials: E
authors.lastname: Tardío
authors.forename: J
authors.initials: J
authors.lastname: Molano
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA