Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
Abstract This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were ana...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2023-05-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-023-00352-1 |
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| author | Patricio G. Schlottmann José D. Luna Natalia Labat María Belén Yadarola Silvina Bainttein Evangelina Esposito Agustina Ibañez Evangelina Ivón Barbaro Alejandro Álvarez Mendiara Carolina P. Picotti Andrea Chirino Misisian Luciana Andreussi Julieta Gras Luciana Capalbo Mauro Visotto José E. Dipierri Emilio Alcoba Laura Fernández Gabrielli Silvia Ávila María Emilia Aucar Daniel M. Martin Gerardo Juan Ormaechea M. Eugenia Inga Aníbal A. Francone Martin Charles Tamara Zompa Pablo Javier Pérez Vanesa Lotersztein Pedro J. Nuova Ivana B. Canonero Omar A. Mahroo Michel Michaelides Gavin Arno Malena Daich Varela |
| author_facet | Patricio G. Schlottmann José D. Luna Natalia Labat María Belén Yadarola Silvina Bainttein Evangelina Esposito Agustina Ibañez Evangelina Ivón Barbaro Alejandro Álvarez Mendiara Carolina P. Picotti Andrea Chirino Misisian Luciana Andreussi Julieta Gras Luciana Capalbo Mauro Visotto José E. Dipierri Emilio Alcoba Laura Fernández Gabrielli Silvia Ávila María Emilia Aucar Daniel M. Martin Gerardo Juan Ormaechea M. Eugenia Inga Aníbal A. Francone Martin Charles Tamara Zompa Pablo Javier Pérez Vanesa Lotersztein Pedro J. Nuova Ivana B. Canonero Omar A. Mahroo Michel Michaelides Gavin Arno Malena Daich Varela |
| author_sort | Patricio G. Schlottmann |
| collection | DOAJ |
| description | Abstract This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region. |
| first_indexed | 2024-03-13T08:59:39Z |
| format | Article |
| id | doaj.art-a4196dab4d534e369ef825091e1bfe14 |
| institution | Directory Open Access Journal |
| issn | 2056-7944 |
| language | English |
| last_indexed | 2024-03-13T08:59:39Z |
| publishDate | 2023-05-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Genomic Medicine |
| spelling | doaj.art-a4196dab4d534e369ef825091e1bfe142023-05-28T11:23:36ZengNature Portfolionpj Genomic Medicine2056-79442023-05-01811910.1038/s41525-023-00352-1Nationwide genetic analysis of more than 600 families with inherited eye diseases in ArgentinaPatricio G. Schlottmann0José D. Luna1Natalia Labat2María Belén Yadarola3Silvina Bainttein4Evangelina Esposito5Agustina Ibañez6Evangelina Ivón Barbaro7Alejandro Álvarez Mendiara8Carolina P. Picotti9Andrea Chirino Misisian10Luciana Andreussi11Julieta Gras12Luciana Capalbo13Mauro Visotto14José E. Dipierri15Emilio Alcoba16Laura Fernández Gabrielli17Silvia Ávila18María Emilia Aucar19Daniel M. Martin20Gerardo Juan Ormaechea21M. Eugenia Inga22Aníbal A. Francone23Martin Charles24Tamara Zompa25Pablo Javier PérezVanesa Lotersztein26Pedro J. Nuova27Ivana B. Canonero28Omar A. Mahroo29Michel Michaelides30Gavin Arno31Malena Daich Varela32Charles Centro OftalmológicoCentro Privado de Ojos Romagosa SACentro Privado de Ojos Romagosa SACentro Privado de Ojos Romagosa SAInstituto Oftalmológico de CórdobaUniversity Clinic Reina Fabiola, CórdobaUniversity Clinic Reina Fabiola, CórdobaHospital Provincial NeuquénInstituto Oftalmológico CortinaCentro Médico Lisandro de la Torre, Villa MaríaCentro Médico Lisandro de la Torre, Villa MaríaClínica de la VisiónCentrovision Mendoza SAHospital MJ Becker, La PuntaInstituto Oftalmológico TrelewUniversidad Nacional de JujuyHospital Materno Infantil Dr Héctor QuintanaNuevo Hospital San Antonio de Padua, Río CuartoFacultad de Ciencias Médicas, Universidad Nacional del ComahueInstituto de Ojos y OídosInstituto de Ojos y OídosClínica de Ojos CórdobaOrganización Medica de InvestigaciónCharles Centro OftalmológicoCharles Centro OftalmológicoCharles Centro OftalmológicoCentro Nacional de Genética MédicaOcularyb Oftalmoclinica, Yerba BuenaHospital Privado Universitario de CórdobaMoorfields Eye HospitalMoorfields Eye HospitalMoorfields Eye HospitalMoorfields Eye HospitalAbstract This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.https://doi.org/10.1038/s41525-023-00352-1 |
| spellingShingle | Patricio G. Schlottmann José D. Luna Natalia Labat María Belén Yadarola Silvina Bainttein Evangelina Esposito Agustina Ibañez Evangelina Ivón Barbaro Alejandro Álvarez Mendiara Carolina P. Picotti Andrea Chirino Misisian Luciana Andreussi Julieta Gras Luciana Capalbo Mauro Visotto José E. Dipierri Emilio Alcoba Laura Fernández Gabrielli Silvia Ávila María Emilia Aucar Daniel M. Martin Gerardo Juan Ormaechea M. Eugenia Inga Aníbal A. Francone Martin Charles Tamara Zompa Pablo Javier Pérez Vanesa Lotersztein Pedro J. Nuova Ivana B. Canonero Omar A. Mahroo Michel Michaelides Gavin Arno Malena Daich Varela Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina npj Genomic Medicine |
| title | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina |
| title_full | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina |
| title_fullStr | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina |
| title_full_unstemmed | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina |
| title_short | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina |
| title_sort | nationwide genetic analysis of more than 600 families with inherited eye diseases in argentina |
| url | https://doi.org/10.1038/s41525-023-00352-1 |
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