Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. 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 s...

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Bibliographic Details
Published in:Frontiers in genetics 2021-03, Vol.12, p.646058-646058
Main Authors: 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
Format: Article
Language:English
Subjects:
ABCA4 gene
Genetics
Latin America
mutation
next-generation sequencing – NGS
Stargardt disease
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Summary:To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. 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 and other phenocopying genes ( , , and ) was performed in 97 STGD patients. We found two or more disease-causing variants in the gene in 69/95 (73%) probands, a single A4 variant in 9/95 (9.5%) probands, and no variants in 17/95 (18%) probands. The final analysis identified 173 variants in . Seventy-nine variants were unique, of which nine were novel. No significant findings were seen in the other evaluated genes. 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 mutational spectrum with nine novel disease-causing variants, of which eight might be associated with South American natives.
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2021.646058