EYS is a major gene for rod-cone dystrophies in France
Open Access
- 23 March 2010
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 31 (5), E1406-E1435
- https://doi.org/10.1002/humu.21249
Abstract
Autosomal‐recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well‐characterized cohort of 239 sporadic and arRP French cases. Direct sequencing of EYS was performed in 186 subjects for whom known mutations had previously been excluded by applying microarray technology. We mostly identified novel mutations in EYS in a total of 29 patients: Fifteen of the mutations were predicted to create premature stop codons and two represent exonic deletions. In addition, twenty missense, silent or splice‐site mutations were detected. Patients revealed homozygous or compound heterozygous mutations and in some cases, only a single mutation. Most patients showed classical signs of RP with relatively preserved central vision and visual field until late in the course of the disorder. One patient showed predominance of the disease in the inferior part of the retina suggesting potential phenotypic variability. With a prevalence of 12% or more we provide evidence that EYS is a major gene for RP in France and probably elsewhere.Keywords
This publication has 7 references indexed in Scilit:
- Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis PigmentosaAmerican Journal of Human Genetics, 2008
- EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaNature Genetics, 2008
- The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomographyBritish Journal of Ophthalmology, 2008
- Linkage Validation of RP25 Using the 10K GeneChip Array and Further Refinement of the Locus by New Linked FamiliesAnnals of Human Genetics, 2008
- A Novel Genetic Study of Chinese Families with Autosomal Recessive Retinitis PigmentosaAnnals of Human Genetics, 2006
- Transforming the architecture of compound eyesNature, 2006
- RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodiesThe EMBO Journal, 2004