P139: Pre-test clinical enrichment refines interpretation of CFTR TG–T with or without R117H haplotypes

Genetics in Medicine Open 2026 Open access

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Authors: Erica M. Vaccari, John Garcia, Dana Neitzel, Daniel E. Pineda-Alvarez
DOI: 10.1016/j.gimo.2026.103633
Cited by: 0

Abstract

Cystic fibrosis (CF) and CFTR-related disorders (CFTR-RD) arise from biallelic loss-of-function CFTR variants. The intronic 5T (T5) allele reduces splicing efficiency, with penetrance modulated by adjacent TG repeats (TG11T5–TG13T5). TG-T haplotypes, with or without p.Arg117His (R117H), yields wide phenotypic expressivity. However, limited large-scale evidence quantifies how CFTR genotypes manifest clinically before test results are known. We leveraged national medical claims to characterize strictly pre-test clinical enrichment patterns across CFTR genotype classes.

Fields of Study & Subjects

Cystic Fibrosis Research Advances Genomics and Rare Diseases Genetic and Kidney Cyst Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103633–103633
Publication date
1 January 2026
Language
EN