Communicated by Peter K. Rogan
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome†
Article first published online: 6 APR 2010
© 2010 Wiley-Liss, Inc.
Volume 31, Issue 6, pages 734–741, June 2010
How to Cite
Vaché, C., Besnard, T., Blanchet, C., Baux, D., Larrieu, L., Faugère, V., Mondain, M., Hamel, C., Malcolm, S., Claustres, M. and Roux, A.-F. (2010), Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum. Mutat., 31: 734–741. doi: 10.1002/humu.21255
- Issue published online: 25 MAY 2010
- Article first published online: 6 APR 2010
- Accepted manuscript online: 6 APR 2010 12:00AM EST
- Manuscript Accepted: 23 MAR 2010
- Manuscript Received: 17 DEC 2009
- Usher syndrome;
- unclassified variant;
- nasal cells;
We have shown that nasal ciliated epithelium, which can be easily biopsied under local anesthetic, provides a good source of RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2. Furthermore, the known or predicted effect on mRNA splicing of eight variants was faithfully reproduced in the biopsied sample as measured by nested RT-PCR. These included changes at the canonical acceptor site, changes within the noncanonical acceptor site and both synonymous and nonsynonymous amino acid changes. This shows that mRNA analysis by this method will help in assessing the pathogenic effect of variants, which is a major problem in the molecular diagnosis of Usher syndrome. Hum Mutat 31:1–8, 2010. © 2010 Wiley-Liss, Inc.