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...
| Authors: | ; ; ; ; ; ; ; ; ; |
|---|---|
| Format: | Article |
| Status: | Published version |
| Publication date: | 2021 |
| Country: | España |
| Institution: | Universidad de Barcelona |
| Repository: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/184072 |
| Online Access: | https://hdl.handle.net/2445/184072 |
| Access Level: | Open access |
| Keyword: | Malalties de la retina Diagnòstic Genètica Retinal diseases Diagnosis Genetics |
| _version_ | 1878731755070947328 |
|---|---|
| author | Villanueva-Mendoza, Cristina |
| 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 |
| author_browse | Apam-Garduño, David Cortés-González, Vianney Gonzàlez-Duarte, Roser Marfany i Nadal, Gemma Tonda, Raul Trotta, Jean Remi Tuson, Miquel Valero, Rebeca Villanueva-Mendoza, Cristina de Castro-Miró, Marta |
| 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 |
| collection | Dipòsit Digital de la UB |
| 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_35dffaee7b72d2a8bf9eb9db5912a341 |
| institution | Universidad de Barcelona |
| instname_str | Universidad de Barcelona |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:diposit.ub.edu:2445/184072 |
| publishDate | 2021 |
| publishDateSort | 2021 |
| publisher | MDPI |
| publisherStr | MDPI |
| reponame_str | Dipòsit Digital de la UB |
| spelling | The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes 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 Malalties de la retina Diagnòstic Genètica Retinal diseases Diagnosis Genetics 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. MDPI https://hdl.handle.net/2445/184072 |
| 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 |
| status_str | publishedVersion |
| title | 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_short | 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 |
| topic | Malalties de la retina Diagnòstic Genètica Retinal diseases Diagnosis Genetics |
| topic_facet | Malalties de la retina Diagnòstic Genètica Retinal diseases Diagnosis Genetics |
| url | https://hdl.handle.net/2445/184072 |