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000099700 0247_ $$2doi$$a10.1038/s41598-021-81093-y
000099700 0248_ $$2sideral$$a123140
000099700 037__ $$aART-2021-123140
000099700 041__ $$aeng
000099700 100__ $$aPerea-Romero, I.
000099700 245__ $$aGenetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
000099700 260__ $$c2021
000099700 5060_ $$aAccess copy available to the general public$$fUnrestricted
000099700 5203_ $$aInherited 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.
000099700 536__ $$9info:eu-repo/grantAgreement/ES/MSCBS-ISCIII-FIS/PI16-00425$$9info:eu-repo/grantAgreement/ES/MSCBS-ISCIII-FIS/PI19-00321
000099700 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000099700 590__ $$a4.997$$b2021
000099700 592__ $$a1.005$$b2021
000099700 591__ $$aMULTIDISCIPLINARY SCIENCES$$b19 / 74 = 0.257$$c2021$$dQ2$$eT1
000099700 593__ $$aMultidisciplinary$$c2021$$dQ1
000099700 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000099700 700__ $$aGordo, G.
000099700 700__ $$aIancu, I.F.
000099700 700__ $$aDel Pozo-Valero, M.
000099700 700__ $$aAlmoguera, B.
000099700 700__ $$aBlanco-Kelly, F.
000099700 700__ $$aCarreño, E.
000099700 700__ $$aJimenez-Rolando, B.
000099700 700__ $$aLopez-Rodriguez, R.
000099700 700__ $$aLorda-Sanchez, I.
000099700 700__ $$aMartin-Merida, I.
000099700 700__ $$aPérez de Ayala, L.
000099700 700__ $$aRiveiro-Alvarez, R.
000099700 700__ $$aRodriguez-Pinilla, E.
000099700 700__ $$aTahsin-Swafiri, S.
000099700 700__ $$aTrujillo-Tiebas, M.J.
000099700 700__ $$aBustamante-Aragones, A.
000099700 700__ $$aCardero-Merlo, R.
000099700 700__ $$aFernandez-Sanchez, R.
000099700 700__ $$aGallego-Merlo, J.
000099700 700__ $$aGarcia-Vara, I.
000099700 700__ $$aGimenez-Pardo, A.
000099700 700__ $$aHorcajada-Burgos, L.
000099700 700__ $$aInfantes-Barbero, F.
000099700 700__ $$aLantero, E.
000099700 700__ $$aLopez-Martinez, M.A.
000099700 700__ $$aMartinez-Ramas, A.
000099700 700__ $$aOndo, L.
000099700 700__ $$aRodriguez de Alba, M.
000099700 700__ $$aSanchez-Jimeno, C.
000099700 700__ $$aVelez-Monsalve, C.
000099700 700__ $$aVillaverde, C.
000099700 700__ $$aZurita, O.
000099700 700__ $$aAguilera-Garcia, D.
000099700 700__ $$aAguirre-Lamban, J.
000099700 700__ $$aArteche, A.
000099700 700__ $$aCantalapiedra, D.
000099700 700__ $$aFernandez-San Jose, P.
000099700 700__ $$aGalbis-Martinez, L.
000099700 700__ $$aGarcia-Hoyos, M.
000099700 700__ $$aLombardia, C.
000099700 700__ $$aLopez-Molina, M.I.
000099700 700__ $$aPerez-Carro, R.
000099700 700__ $$aDa Silva, L.R.J.
000099700 700__ $$aRamos, C.
000099700 700__ $$aSanchez-Alcudia, R.
000099700 700__ $$aSanchez-Navarro, I.
000099700 700__ $$aTatu, S.D.
000099700 700__ $$aVallespin, E.
000099700 700__ $$aAller, E.
000099700 700__ $$aBernal, S.
000099700 700__ $$aGamundi, M.J.
000099700 700__ $$aGarcia-Garcia, G.
000099700 700__ $$aHernan, I.
000099700 700__ $$aJaijo, T.
000099700 700__ $$aAntiñolo, G.
000099700 700__ $$aBaiget, M.
000099700 700__ $$aCarballo, M.
000099700 700__ $$aMillan, J.M.
000099700 700__ $$aValverde, D.
000099700 700__ $$aAllikmets, R.
000099700 700__ $$aBanfi, S.
000099700 700__ $$aCremers, F.P.M.
000099700 700__ $$aCollin, R.W.J.
000099700 700__ $$aDe Baere, E.
000099700 700__ $$aHakonarson, H.
000099700 700__ $$aKohl, S.
000099700 700__ $$aRivolta, C.
000099700 700__ $$aSharon, D.
000099700 700__ $$aAlonso-Cerezo, M.C.
000099700 700__ $$aBallesta-Martinez, M.J.
000099700 700__ $$aBeltran, S.
000099700 700__ $$aBenito Lopez, C.
000099700 700__ $$aCatalà-Mora, J.
000099700 700__ $$aCatalli, C.
000099700 700__ $$aCotarelo-Perez, C.
000099700 700__ $$aFernandez-Burriel, M.
000099700 700__ $$aFontalba-Romero, A.
000099700 700__ $$aGalán-Gómez, E.
000099700 700__ $$aGarcia-Barcina, M.
000099700 700__ $$aGarcia-Cruz, L.M.
000099700 700__ $$aGener, B.
000099700 700__ $$aGil-Fournier, B.
000099700 700__ $$aGovea, N.
000099700 700__ $$aGuillen-Navarro, E.
000099700 700__ $$aHernando Acero, I.
000099700 700__ $$aIrigoyen, C.
000099700 700__ $$aIzquierdo-Álvarez, S.
000099700 700__ $$aLlano-Rivas, I.
000099700 700__ $$aLópez-Ariztegui, M.A.
000099700 700__ $$aLopez-Gonzalez, V.
000099700 700__ $$aLopez-Grondona, F.
000099700 700__ $$aMartorell, L.
000099700 700__ $$aMendez-Perez, P.
000099700 700__ $$aMoreno-Igoa, M.
000099700 700__ $$aOancea-Ionescu, R.
000099700 700__ $$aPalau-Martinez, F.
000099700 700__ $$aPerez de Nanclares, G.
000099700 700__ $$0(orcid)0000-0002-5732-2209$$aRamos-Fuentes, F.J.$$uUniversidad de Zaragoza
000099700 700__ $$aRodriguez-Lopez, R.
000099700 700__ $$aRodriguez-Pedreira, M.
000099700 700__ $$aRodriguez-Peña, L.
000099700 700__ $$aRodriguez-Sanchez, B.
000099700 700__ $$aRosell, J.
000099700 700__ $$aRosello, N.
000099700 700__ $$aSaez-Villaverde, R.
000099700 700__ $$aSantana, A.
000099700 700__ $$aValenzuela-Palafoll, I.
000099700 700__ $$aVillota-Deleu, E.
000099700 700__ $$aGarcia-Sandoval, B.
000099700 700__ $$aMinguez, P.
000099700 700__ $$aAvila-Fernandez, A.
000099700 700__ $$aCorton, M.
000099700 700__ $$aAyuso, C.
000099700 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000099700 773__ $$g11, 1 (2021), 1526 [13 pp]$$pSci. rep. (Nat. Publ. Group)$$tScientific reports (Nature Publishing Group)$$x2045-2322
000099700 8564_ $$s870488$$uhttps://zaguan.unizar.es/record/99700/files/texto_completo.pdf$$yVersión publicada
000099700 8564_ $$s2490502$$uhttps://zaguan.unizar.es/record/99700/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000099700 909CO $$ooai:zaguan.unizar.es:99700$$particulos$$pdriver
000099700 951__ $$a2023-05-18-14:05:16
000099700 980__ $$aARTICLE