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Article

Characterization of two ultra-rare CFTR variants, P.Leu999del and P.Glu1104Lys, with unknown theratyping profiles.

Orphanet journal of rare diseases - 2 Jun 2026

Dousova Tereza, Borek-Dohalska Lucie, Novotna Stepanka, Skalicka Veronika, Libik Malgorzata, Macek Milan, Drevinek Pavel

Abstract excerpt

BACKGROUND: Individuals carrying ultra-rare CFTR variants remain untreated with CFTR modulator therapies due to a lack of functional and clinical data supporting variant-specific responsiveness. This study aimed to functionally characterize two ultra-rare CFTR variants, p.Glu1104Lys (E1104K) and p.Leu999del (L999del), each found in trans with the minimal function variant G542X, and to evaluate their...

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Identifiers

PMID: 42231332
DOI: 10.1186/s13023-026-04415-1
PMCID: PMC13455205

Genes

CFTR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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