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Article

Developing a primer for communicating about penetrance, expressivity, and genotype-phenotype correlation of R117H and the poly-T tract in CFTR.

Journal of genetic counseling - 1 Dec 2025

Raraigh Karen S, Balcom Jessica R, Langfelder-Schwind Elinor

Abstract excerpt

Variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes cystic fibrosis, have become increasingly well-characterized in recent decades. However, clinicians remain challenged by CFTR variants that result in variable expressivity and reduced penetrance, including the variant R117H (c.350G>A) and the intron 9 poly-thymidine (poly-T) and poly-thymidine-guanosine (TG) tracts,...

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Identifiers

PMID: 41456321
DOI: 10.1002/jgc4.70151

Genes

CFTR
TG

Variants

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