Molecular genetic basis of Usher syndrome in the Czech population

Abstract

SummaryA systematic literature search of the PubMed database (1 March 2016) using keywords ‘Usher syndrome’ AND ‘mutation’ AND ‘Czech Republic’ (or Belarus, Bulgaria, Estonia, Hungary, Latvia, Lithuania, Moldova, Poland, Slovakia, Romania, Russia, Ukraine) yielded 3 results. After inspection of retrieved abstracts we concluded that none of the published patients had an established molecular genetic cause of Usher syndrome. This is in striking contrast to numerous reports from Western European populations. In this presentation we will discuss our recently established program at a tertiary referral centre in Prague to genotype patients with Usher syndrome. So far 17 probands and 27 unaffected first degree relatives have been examined and donated DNA samples. The search into the molecular genetic causes is ongoing, however it is already apparent that there is an overrepresentation of the c.11864G>A; p.(Trp3955*) mutation in USH2A which was found on at least one allele in 9 probands (53%). The impact of our findings on clinical care and their potential to provide translational outcomes will be discussed. The spectrum of mutations identified in Czech Usher syndrome patients may also be relevant for neighbouring countries.