Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa: Human mutation

Isabel Barragán, Salud Borrego, Juan Ignacio Pieras, María González-del Pozo, Javier Santoyo, Carmen Ayuso, Montserrat Baiget, José M Millan, Marcela Mena, Mai M Abd El-Aziz, Isabelle Audo, Christina Zeitz, Karin W Littink, Joaquín Dopazo, Shomi S Bhattacharya, Guillermo Antiñolo

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene(EYS) encoding an ortholog of Drosophila space maker (spam) as a commonly mutated gene in autosomal recessive RP. In the present study, we report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28)are possibly pathogenic, whereas 39.3% (11/28) are SNPs. In addition, we have detected 3 pathogenic changes previously reported in other populations. We are also presenting the characterisation of EYS homologues in different species, and a detailed analysis of the EYS domains, with the identification of an interesting novel feature: a putative coiled-coil domain.Majority of the mutations in the arRP patients have been found within the domain structures of EYS. The minimum observed prevalence of distinct EYS mutations in our group of patients is of 15.9% (15/94), confirming a major involvement of EYS in the pathogenesis of arRP in the Spanish population. Along with the detection of three recurrent mutations in Caucasian population, our hypothesis of EYS being the first prevalent gene in arRP has been reinforced in the present study.
Original languageEnglish
Pages (from-to)E1772-800
Number of pages29
JournalHuman Mutation: Variation, Informatics and Disease
Volume31
Issue number11
Early online date31 Aug 2010
DOIs
Publication statusPublished - 1 Nov 2010

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