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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

PURPOSE: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. METHODS: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing o...

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Autores principales: Mena, Marcela D., Moresco, Angélica A., Vidal, Sofía H., Aguilar-Cortes, Diana, Obregon, María G., Fandiño, Adriana C., Sendoya, Juan M., Llera, Andrea S., Podhajcer, Osvaldo L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033171/
https://www.ncbi.nlm.nih.gov/pubmed/33841504
http://dx.doi.org/10.3389/fgene.2021.646058
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author Mena, Marcela D.
Moresco, Angélica A.
Vidal, Sofía H.
Aguilar-Cortes, Diana
Obregon, María G.
Fandiño, Adriana C.
Sendoya, Juan M.
Llera, Andrea S.
Podhajcer, Osvaldo L.
author_facet Mena, Marcela D.
Moresco, Angélica A.
Vidal, Sofía H.
Aguilar-Cortes, Diana
Obregon, María G.
Fandiño, Adriana C.
Sendoya, Juan M.
Llera, Andrea S.
Podhajcer, Osvaldo L.
author_sort Mena, Marcela D.
collection PubMed
description PURPOSE: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. METHODS: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing of the coding and splicing regions of ABCA4 and other phenocopying genes (ELOVL4, PROM1, and CNGB3) was performed in 97 STGD patients. RESULTS: We found two or more disease-causing variants in the ABCA4 gene in 69/95 (73%) probands, a single ABCA4 variant in 9/95 (9.5%) probands, and no ABCA4 variants in 17/95 (18%) probands. The final analysis identified 173 variants in ABCA4. Seventy-nine ABCA4 variants were unique, of which nine were novel. No significant findings were seen in the other evaluated genes. CONCLUSION: This study describes the phenotypic and genetic features of STGD1 in an Argentinean cohort. The mutations p.(Gly1961Glu) and p.(Arg1129Leu) were the most frequent, representing almost 20% of the mutated alleles. We also expanded the ABCA4 mutational spectrum with nine novel disease-causing variants, of which eight might be associated with South American natives.
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spelling pubmed-80331712021-04-10 Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients Mena, Marcela D. Moresco, Angélica A. Vidal, Sofía H. Aguilar-Cortes, Diana Obregon, María G. Fandiño, Adriana C. Sendoya, Juan M. Llera, Andrea S. Podhajcer, Osvaldo L. Front Genet Genetics PURPOSE: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. METHODS: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing of the coding and splicing regions of ABCA4 and other phenocopying genes (ELOVL4, PROM1, and CNGB3) was performed in 97 STGD patients. RESULTS: We found two or more disease-causing variants in the ABCA4 gene in 69/95 (73%) probands, a single ABCA4 variant in 9/95 (9.5%) probands, and no ABCA4 variants in 17/95 (18%) probands. The final analysis identified 173 variants in ABCA4. Seventy-nine ABCA4 variants were unique, of which nine were novel. No significant findings were seen in the other evaluated genes. CONCLUSION: This study describes the phenotypic and genetic features of STGD1 in an Argentinean cohort. The mutations p.(Gly1961Glu) and p.(Arg1129Leu) were the most frequent, representing almost 20% of the mutated alleles. We also expanded the ABCA4 mutational spectrum with nine novel disease-causing variants, of which eight might be associated with South American natives. Frontiers Media S.A. 2021-03-26 /pmc/articles/PMC8033171/ /pubmed/33841504 http://dx.doi.org/10.3389/fgene.2021.646058 Text en Copyright © 2021 Mena, Moresco, Vidal, Aguilar-Cortes, Obregon, Fandiño, Sendoya, Llera and Podhajcer. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Mena, Marcela D.
Moresco, Angélica A.
Vidal, Sofía H.
Aguilar-Cortes, Diana
Obregon, María G.
Fandiño, Adriana C.
Sendoya, Juan M.
Llera, Andrea S.
Podhajcer, Osvaldo L.
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
title Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
title_full Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
title_fullStr Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
title_full_unstemmed Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
title_short Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
title_sort clinical and genetic spectrum of stargardt disease in argentinean patients
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033171/
https://www.ncbi.nlm.nih.gov/pubmed/33841504
http://dx.doi.org/10.3389/fgene.2021.646058
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