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Article

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

Human mutation - 1 Nov 2010

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

Abstract excerpt

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,...

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Source

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Identifiers

PMID: 21069908
DOI: 10.1002/humu.21334
PMCID: PMC3045506

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.PMID 21069908Read ↗

EYS is a major gene for rod-cone dystrophies in France.Semantic proximity Read ↗

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.Semantic proximity Read ↗

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.Semantic proximity Read ↗

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.Semantic proximity Read ↗

EYS Mutations and Implementation of Minigene Assay for Variant Classification in EYS-Associated Retinitis Pigmentosa in Northern SwedenSemantic proximity Read ↗

Fundus phenotype in retinitis pigmentosa associated with EYS mutations.Semantic proximity Read ↗

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Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

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Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Semantic proximity Read ↗

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