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

TitleMutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Publication TypeJournal Article
Year of Publication2010
AuthorsBarragán, I, Borrego, S, Pieras, JIgnacio, del Pozo, MGonzález-, Santoyo, J, Ayuso, C, Baiget, M, Millán, JM, Mena, M, El-Aziz, MMAbd, Audo, I, Zeitz, C, Littink, KW, Dopazo, J, Bhattacharya, SS, Antiňolo, G
JournalHum Mutat
Date Published2010 Nov
KeywordsAmino Acid Sequence; Animals; Case-Control Studies; DNA Mutational Analysis; Drosophila Proteins; Evolution, Molecular; Eye Proteins; Female; Genes, Recessive; Genetic Variation; Humans; Male; Molecular Sequence Data; mutation; Pedigree; Polymorphism, Single Nucleotide; Protein Structure, Tertiary; Retinitis pigmentosa; Spain; Structural Homology, Protein

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.

Alternate JournalHum Mutat
PubMed ID21069908
PubMed Central IDPMC3045506