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

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 underrepresented in ge...

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Autores: Villanueva-Mendoza, Cristina, Tuson, Miquel, Apam-Garduño, David, de Castro-Miró, Marta, Tonda, Raul, Trotta, Jean Remi, Marfany i Nadal, Gemma, Valero, Rebeca, Cortés-González, Vianney, Gonzàlez-Duarte, Roser
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/184072
Acceso en línea:https://hdl.handle.net/2445/184072
Access Level:acceso abierto
Palabra clave:Malalties de la retina
Diagnòstic
Genètica
Retinal diseases
Diagnosis
Genetics
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spelling The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypesVillanueva-Mendoza, CristinaTuson, MiquelApam-Garduño, Davidde Castro-Miró, MartaTonda, RaulTrotta, Jean RemiMarfany i Nadal, GemmaValero, RebecaCortés-González, VianneyGonzàlez-Duarte, RoserMalalties de la retinaDiagnòsticGenèticaRetinal diseasesDiagnosisGeneticsIn 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 underrepresented 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.MDPI2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/184072Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.3390/genes12111824Genes, 2021, vol. 12, num. 11, p. 1-13https://doi.org/10.3390/genes12111824cc-by (c) Villanueva-Mendoza, Cristina et al., 2021https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1840722026-05-27T06:46:51Z
dc.title.none.fl_str_mv The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
title The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
spellingShingle The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
Villanueva-Mendoza, Cristina
Malalties de la retina
Diagnòstic
Genètica
Retinal diseases
Diagnosis
Genetics
title_short The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
title_full The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
title_fullStr The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
title_full_unstemmed The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
title_sort The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes
dc.creator.none.fl_str_mv Villanueva-Mendoza, Cristina
Tuson, Miquel
Apam-Garduño, David
de Castro-Miró, Marta
Tonda, Raul
Trotta, Jean Remi
Marfany i Nadal, Gemma
Valero, Rebeca
Cortés-González, Vianney
Gonzàlez-Duarte, Roser
author Villanueva-Mendoza, Cristina
author_facet Villanueva-Mendoza, Cristina
Tuson, Miquel
Apam-Garduño, David
de Castro-Miró, Marta
Tonda, Raul
Trotta, Jean Remi
Marfany i Nadal, Gemma
Valero, Rebeca
Cortés-González, Vianney
Gonzàlez-Duarte, Roser
author_role author
author2 Tuson, Miquel
Apam-Garduño, David
de Castro-Miró, Marta
Tonda, Raul
Trotta, Jean Remi
Marfany i Nadal, Gemma
Valero, Rebeca
Cortés-González, Vianney
Gonzàlez-Duarte, Roser
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Malalties de la retina
Diagnòstic
Genètica
Retinal diseases
Diagnosis
Genetics
topic Malalties de la retina
Diagnòstic
Genètica
Retinal diseases
Diagnosis
Genetics
description 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 underrepresented 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.
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/184072
url https://hdl.handle.net/2445/184072
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3390/genes12111824
Genes, 2021, vol. 12, num. 11, p. 1-13
https://doi.org/10.3390/genes12111824
dc.rights.none.fl_str_mv cc-by (c) Villanueva-Mendoza, Cristina et al., 2021
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Villanueva-Mendoza, Cristina et al., 2021
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300724

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