title: Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.
abstract: We describe three delta-F508/G551S compound heterozygous siblings with a mild CF phenotype, characterized by mild chronic pulmonary disease, pancreatic sufficiency and increased sweat chloride levels. PCR-mediated site-directed mutagenesis detected the delta-F508 mutation on one allele, and the G551S mutation was detected by SSCP and sequence analysis of exon 11. Two previously described sisters who were homozygous for the G551S mutation had a very mild phenotype with normal sweat chloride concentrations. In our patients the mild phenotype resulted from the combined effect of the mild G551S allele with the severe delta-F508 allele.
authors.affiliation: Department of Genetics, Instituto Nacional de Pediatría, México D.F., México.
authors.forename: L
authors.initials: L
authors.lastname: Orozco
authors.forename: J L
authors.initials: JL
authors.lastname: Lezana
authors.forename: M T
authors.initials: MT
authors.lastname: Villarreal
authors.forename: M
authors.initials: M
authors.lastname: Chávez
authors.forename: A
authors.initials: A
authors.lastname: Carnevale
mesh_terms: D000328:Adult; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009679:Nuclear Family; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic