Identification of a Novel 5′ AlternativeCFTRmRNA Isoform in a Patient with Nasal Polyposis andCFTRMutations
Copyright policy )Identification of a Novel 5′ AlternativeCFTRmRNA Isoform in a Patient with Nasal Polyposis andCFTRMutations
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.
- University of Paris France
- Paris-East Créteil University France
- Panthéon-Assas University France
- Institut National de la Santé et la Recherche Médicale France
- Inserm France
alternative transcripts, Male, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Pedigree, Alternative Splicing, Nasal Polyps, Gene Order, Mutation, nasal polyposis, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA Isoforms, Humans, RNA, Messenger, CFTR, transcription regulation, 5' Untranslated Regions, Child
alternative transcripts, Male, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Pedigree, Alternative Splicing, Nasal Polyps, Gene Order, Mutation, nasal polyposis, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA Isoforms, Humans, RNA, Messenger, CFTR, transcription regulation, 5' Untranslated Regions, Child
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