Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Vaché C
- Besnard T
- le Berre P
- Baux D
- Larrieu L
- Abadie C
- Blanchet C
- Bolz HJ
- Hamel C
- Malcolm S
- Claustres M
- Roux AF
Grupos
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).
Datos de la publicación
- ISSN/ISSNe:
- 1059-7794, 1098-1004
- Tipo:
- Article
- Páginas:
- 104-108
- DOI:
- 10.1002/humu.21634
- PubMed:
- 22009552
- Factor de Impacto:
- 3,060 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
HUMAN MUTATION WILEY
Citas Recibidas en Web of Science: 85
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- No hay documentos
Filiaciones
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Cita
Vaché C,Besnard T,le P,GARCÍA G,Baux D,Larrieu L,Abadie C,Blanchet C,Bolz HJ,MILLAN J,Hamel C,Malcolm S,Claustres M,Roux AF. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat. 2012. 33. (1):p. 104-108. IF:5,213. (1).