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.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.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.doi http://dx.doi.org/10.3390/genes12111824
  • dc.identifier.issn 2073-4425
  • dc.identifier.uri http://hdl.handle.net/10230/52695
  • 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.accessRights info:eu-repo/semantics/openAccess
  • 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.type.version info:eu-repo/semantics/publishedVersion

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