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

Authors: Vache, C  Besnard, T  Le Berre, P  Garcia-Garcia, G  Baux, D  Larrieu, L  Abadie, C  Blanchet, C  Bolz, HJ  Millan, J  Hamel, C  Malcolm, S  Claustres, M  Roux, AF 
Citation: Vache C, etal., Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
Pubmed: (View Article at PubMed) PMID:22009552
DOI: Full-text: DOI:10.1002/humu.21634

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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CRRD Object Information
CRRD ID: 8547985
Created: 2014-03-04
Species: All species
Last Modified: 2014-03-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.