title: Phenotypic variability of R117H-CFTR expression within monozygotic twins.
abstract: Whilst cystic fibrosis is a monogenic condition, variation in phenotype exists for the same CFTR genotype, which is influenced by multiple genetic and non-genetic (environmental) factors. The R117H-CFTR mutation has variability directly relating to in cis poly-thymidine alleles, producing a differing spectrum of disease. This paper provides evidence of extreme phenotype variability - including fertility status - in the context of male monogenetic twins, discussing mechanisms and highlighting the diagnostic and treatment challenges.
authors.affiliation: Adult Cystic Fibrosis Centre, Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, UK, SW3 6NP. Electronic address: m.waller@nhs.net.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Waller
authors.affiliation: Adult Cystic Fibrosis Centre, Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, UK, SW3 6NP.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Simmonds
mesh_terms: D000483:Alleles; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR-related disorder; Cystic fibrosis; Genetic modifiers; R117H; Twins