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

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
309 KB
Volume
31
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 spacemaker (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. © 2010 Wiley-Liss, Inc.

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