dc.creator | Perea-Romero, Irene | es |
dc.creator | Gordo, Gema | es |
dc.creator | Iancu, Ionut F. | es |
dc.creator | Del Pozo-Valero, Marta | es |
dc.creator | Almoguera, Berta | es |
dc.creator | Blanco-Kelly, Fiona | es |
dc.creator | Antiñolo Gil, Guillermo | es |
dc.creator | Ayuso, Carmen | es |
dc.date.accessioned | 2022-09-21T15:17:28Z | |
dc.date.available | 2022-09-21T15:17:28Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Perea-Romero, I., Gordo, G., Iancu, I.F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F.,...,Ayuso, C. (2021). Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports, 11 (1). https://doi.org/10.1038/s41598-021-81093-y. | |
dc.identifier.issn | 2045-2322 | es |
dc.identifier.uri | https://hdl.handle.net/11441/137274 | |
dc.description.abstract | Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors,
are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our
main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients
reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD
affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish
autonomous communities. Clinical, demographic and familiar data were collected from each patient,
including family pedigree, age of appearance of visual symptoms, presence of any systemic findings
and geographical origin. Genetic studies were performed to the 3951 families with available DNA
using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were
genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The
most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403).
The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD),
autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in
AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants
c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent
variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest
cohort ever presented. Our results have important implications for genetic diagnosis, counselling and
new therapeutic strategies to both the Spanish population and other related populations. | es |
dc.description.sponsorship | Ministerio de Salud España | es |
dc.description.sponsorship | Comunidad de Madrid | es |
dc.format | application/pdf | es |
dc.format.extent | 13 p. | es |
dc.language.iso | eng | es |
dc.relation.ispartof | Scientific Reports, 11 (1). | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.title | Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.relation.projectID | PI16/00425 | es |
dc.relation.projectID | PI19/00321 | es |
dc.relation.projectID | B2017/BMD-3721 | es |
dc.relation.publisherversion | https://www.nature.com/articles/s41598-021-81093-y | es |
dc.identifier.doi | 10.1038/s41598-021-81093-y | es |
dc.journaltitle | Scientific Reports | es |
dc.publication.volumen | 11 | es |
dc.publication.issue | 1 | es |