Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/38875
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa |
Autor: | Barragán, Isabel; Borrego, Salud CSIC ORCID; Pieras, Juan Ignacio; González del Pozo, María CSIC ORCID; Mena, Marcela CSIC; Abd El-Aziz, Mai M.; Audo, Isabelle; Zeitz, Christina; Dopazo, Joaquín CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | Palabras clave: | EYS Retinitis pigmentosa Spanish population Functional domain Recurrent mutation |
Fecha de publicación: | 31-ago-2010 | Editor: | Wiley-Liss | Citación: | Human Mutation 31(11): E1772-E1800 (2010) | Resumen: | 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. | Descripción: | 29 páginas, 4 figuras, 3 tablas.-- et al. | Versión del editor: | http://dx.doi.org/10.1002/humu.21334 | URI: | http://hdl.handle.net/10261/38875 | DOI: | 10.1002/humu.21334 | ISSN: | 1059-7794 | E-ISSN: | 1098-1004 |
Aparece en las colecciones: | (IBIS) Artículos (CABIMER) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
45
checked on 09-abr-2024
SCOPUSTM
Citations
64
checked on 15-abr-2024
WEB OF SCIENCETM
Citations
68
checked on 24-feb-2024
Page view(s)
339
checked on 22-abr-2024
Download(s)
106
checked on 22-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.