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Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Abstract : Cystic fibrosis may be revealed by nasal polyposis (NP) starting early in life. We performed cystic fibrosis transmembrane conductance regulator (CFTR) DNA and mRNA analyses in the family of a 12-year-old boy presenting with NP and a normal sweat test. Routine DNA analysis only showed the heterozygous c.2551C>T (p.Arg851*) mutation in the child and the father. mRNA analysis showed partial exon skipping due to c.2551C>T and a significant increase in total CFTR mRNA in the patient and the mother, which was attributable to the heterozygous c. -2954G>A variant in the distant promoter region, as demonstrated by in vitro luciferase assays. The 5' rapid amplification of cDNA ends analysis showed the presence of a novel transcript, where the canonical exon 1 was replaced by an alternative exon called 1a-Long. This case report could represent the first description of a CFTR-related disorder associated with the presence of a 5' alternative, probably nonfunctional transcript, similar to those of fetal origin.
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https://www.hal.inserm.fr/inserm-01044414
Contributor : Georges Guellaen <>
Submitted on : Wednesday, July 23, 2014 - 3:00:54 PM
Last modification on : Wednesday, August 19, 2020 - 11:18:07 AM
Long-term archiving on: : Tuesday, April 11, 2017 - 5:14:27 PM

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Alexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, Christine Gameiro, François Brémont, et al.. Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.. Human Mutation, Wiley, 2014, 35 (7), pp.805-8. ⟨10.1002/humu.22548⟩. ⟨inserm-01044414⟩

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