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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Abstract : USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. As the patients carried a common USH2A haplotype, they likely shared a mutation not found by standard sequencing techniques. Analysis of RNA from nasal cells in one affected individual identified an additional pseudoexon (PE) resulting from a deep intronic mutation. This was confirmed by minigene assay. This is the first example in Usher syndrome (USH) with a mutation causing activation of a PE. The finding of this alteration in eight other individuals of mixed European origin emphasizes the importance of including RNA analysis in a comprehensive diagnostic service. Finally, this mutation, which would not have been found by whole-exome sequencing, could offer, for the first time in USH, the possibility of therapeutic correction by antisense oligonucleotides (AONs).
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https://hal.umontpellier.fr/hal-02443312
Contributeur : Karine Deletang <>
Soumis le : vendredi 17 janvier 2020 - 09:32:54
Dernière modification le : vendredi 15 mai 2020 - 12:22:08

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Christel Vache, Thomas Besnard, Pauline Le Berre, Gema García-García, David Baux, et al.. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy. Human Mutation, Wiley, 2012, 33 (1), pp.104-108. ⟨10.1002/humu.21634⟩. ⟨hal-02443312⟩

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