Related Experiment Video
Updated: Mar 18, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Phenotypic variability of R117H-CFTR expression within monozygotic twins
Michael D Waller1, Nicholas J Simmonds1
1Adult Cystic Fibrosis Centre, Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, UK, SW3 6NP.
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.
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