Phenotypic variability of R117H-CFTR expression within monozygotic twins
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.
Source: Paediatric Respiratory Reviews - Category: Respiratory Medicine Authors: Michael D. Waller, Nicholas J. Simmonds Source Type: research
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