Afficher la couverture 'Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations. | Hinzpeter, Alexandre' en grand format
/5

0 avis

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

Archive ouverte

Hinzpeter, Alexandre | de Becdelièvre, Alix | Bieth, Eric | Gameiro, Christine | Brémont, François | Martin, Natacha | Costes, Bruno | Costa, Catherine | Aissat, Abdel | Lorot, Aurélie | Prulière-Escabasse, Virginie | Goossens, Michel | Fanen, Pascale | Girodon, Emmanuelle

Edité par CCSD ; Wiley -

International audience. 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.

Suggestions

Du même auteur

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Archive ouverte | Costa, Catherine | CCSD

International audience. BACKGROUND:The identification by CFTR mRNA studies of a new deep-intronic splicing mutation, c.870-1113_1110delGAAT, in one patient of our series with mild CF symptoms and in three CF patient...

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Archive ouverte | Hinzpeter, Alexandre | CCSD

International audience. Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious st...

Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level.

Archive ouverte | Aissat, Abdel | CCSD

International audience. With the increased number of identified nucleotide sequence variations in genes, the current challenge is to classify them as disease causing or neutral. These variants of unknown clinical si...

Chargement des enrichissements...