Phenotypic variability of R117H-CFTR expression within monozygotic twins. (August 2016)

• Record Type: Journal Article
• Authors: Waller, Michael D.; Simmonds, Nicholas J.
• Is Part Of: Paediatric respiratory reviews. Volume 20(2016)Supplement
• Page Start: 21
• Page End: 23
• Publication Date: 2016-08
• Subjects: Cystic fibrosis -- Twins -- R117H -- CFTR-related disorder -- Genetic modifiers; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2016.06.009
• Languages: English
• ISSNs: 1526-0542

Abstract

Summary: 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.