Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

Christel Vaché (1) , Thomas Besnard (1) , Catherine Blanchet (2) , David Baux (1) , Lise Larrieu (1) , Valérie Faugère (1) , Michel Mondain (2) , Christian P Hamel (2) , Sue Malcolm (3) , Mireille Claustres (1, 4) , Anne-Françoise Roux (1)

1 LGMR - Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
2 Centre de référence des affections sensorielles d'origine génétique
3 Clinical and Molecular Genetics
4 UM1 - Université Montpellier 1

We have shown that nasal ciliated epithelium, which can be easily biopsied under local anaesthetic, provides a good source of RNA transcripts from 8 of the 9 known genes which 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 8 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 non-canonical acceptor site and both synonymous and non-synonymous 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.

Mots clés: Life Sciences

Christel Vaché, Thomas Besnard, Catherine Blanchet, David Baux, Lise Larrieu, et al.. Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Human Mutation, 2010, 31 (6), pp.734. ⟨10.1002/humu.21255⟩. ⟨hal-00552381⟩