title: Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?
abstract: A woman with unusually mild cystic fibrosis (CF) and normal sweat chloride levels is reported to have delta F508 deletion on one CF chromosome and the rare mutation R347H on the other, the first known female with this mutation. Of the other eight cases with R347H mutation mentioned in the literature, all five patients whose age and sex were given in the reports were men and had congenital bilateral absence of vas deferens (CBAVD). Considering these data, it is not unrealistic to assume that R347H associates more frequently than other CF mutations with CBAVD, which would mean that the clinical significance of this mutation might differ in males and females.
authors: Department of Genetics, University Children's Hospital, Basel, Switzerland.
authors: G
authors: G
authors: Kosztolányi
authors: N
authors: N
authors: Malik
authors: M
authors: M
authors: Rutishauser
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator