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The genetic landscape of inherited retinal diseases in a Mexican cohort: genes, mutations and phenotypes

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dc.contributor.author Villanueva-Mendoza, Cristina
dc.contributor.author Tusón, Miquel
dc.contributor.author Apam-Garduño, David
dc.contributor.author de Castro-Miró, Marta
dc.contributor.author Tonda, Raúl
dc.contributor.author Trotta, Jean-Remi
dc.contributor.author Marfany, Gemma
dc.contributor.author Valero, Rebeca
dc.contributor.author Cortés-González, Vianney
dc.contributor.author Gonzàlez-Duarte, Roser
dc.date.accessioned 2022-03-15T07:22:52Z
dc.date.available 2022-03-15T07:22:52Z
dc.date.issued 2021
dc.identifier.citation Villanueva-Mendoza C, Tuson M, Apam-Garduño D, de Castro-Miró M, Tonda R, Trotta JM et al. The genetic landscape of inherited retinal diseases in a Mexican cohort: genes, mutations and phenotypes. Genes (Basel). 2021 Nov 19;12(11):1824. DOI: 10.3390/genes12111824
dc.identifier.issn 2073-4425
dc.identifier.uri http://hdl.handle.net/10230/52695
dc.description.abstract In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to the genetic portrait in rare ocular diseases of Mesoamerican populations, which are mostly under-represented in genetic studies. A cohort of 144 unrelated probands with a clinical diagnosis of IRD were analyzed by next-generation sequencing using target gene panels (overall including 346 genes and 65 intronic sequences). Four unsolved cases were analyzed by whole-exome sequencing (WES). The pathogenicity of new variants was assessed by in silico prediction algorithms and classified following the American College of Medical Genetics and Genomics (ACMG) guidelines. Pathogenic or likely pathogenic variants were identified in 105 probands, with a final diagnostic yield of 72.9%; 17 cases (11.8%) were partially solved. Eighteen patients were clinically reclassified after a genetic diagnostic test (17.1%). In our Mexican cohort, mutations in 48 genes were found, with ABCA4, CRB1, RPGR and USH2A as the major contributors. Notably, over 50 new putatively pathogenic variants were identified. Our data highlight cases with relevant clinical and genetic features due to mutations in the RAB28 and CWC27 genes, enrich the novel mutation repertoire and expand the IRD landscape of the Mexican population.
dc.description.sponsorship This research was funded by an anonymous private Mexican donor who generously covered all the expenses
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher MDPI
dc.rights © 2021 by Cristina Villanueva-Mendoza et al. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/)
dc.rights.uri https://creativecommons.org/licenses/by/4.0/
dc.subject.other Genètica
dc.subject.other Retina -- Malalties
dc.title The genetic landscape of inherited retinal diseases in a Mexican cohort: genes, mutations and phenotypes
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3390/genes12111824
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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