Phenotypic variability of R117H-CFTR expression within monozygotic twins

Michael D Waller; Nicholas J Simmonds

doi:10.1016/j.prrv.2016.06.009

Phenotypic variability of R117H-CFTR expression within monozygotic twins

Paediatr Respir Rev. 2016 Aug:20 Suppl:21-3. doi: 10.1016/j.prrv.2016.06.009. Epub 2016 Jun 15.

Authors

Michael D Waller¹, Nicholas J Simmonds²

Affiliations

¹ Adult Cystic Fibrosis Centre, Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, UK, SW3 6NP. Electronic address: m.waller@nhs.net.
² Adult Cystic Fibrosis Centre, Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, UK, SW3 6NP.

PMID: 27364092
DOI: 10.1016/j.prrv.2016.06.009

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.

Keywords: CFTR-related disorder; Cystic fibrosis; Genetic modifiers; R117H; Twins.

Publication types

Case Reports
Review

MeSH terms

Alleles
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Humans
Infertility, Male / genetics
Male
Mutation
Phenotype
Twins, Monozygotic / genetics*

Substances

Cystic Fibrosis Transmembrane Conductance Regulator