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. 

TITLE=Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.646058

DOI=10.3389/fgene.2021.646058

ISSN=1664-8021

ABSTRACT=<sec><title>Purpose</title><p>To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients.</p></sec><sec><title>Methods</title><p>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 <italic>ABCA4</italic> and other phenocopying genes (<italic>ELOVL4</italic>, <italic>PROM1</italic>, and <italic>CNGB3</italic>) was performed in 97 STGD patients.</p></sec><sec><title>Results</title><p>We found two or more disease-causing variants in the <italic>ABCA4</italic> gene in 69/95 (73%) probands, a single <italic>ABC</italic>A4 variant in 9/95 (9.5%) probands, and no <italic>ABCA4</italic> variants in 17/95 (18%) probands. The final analysis identified 173 variants in <italic>ABCA4</italic>. Seventy-nine <italic>ABCA4</italic> variants were unique, of which nine were novel. No significant findings were seen in the other evaluated genes.</p></sec><sec><title>Conclusion</title><p>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 <italic>ABCA4</italic> mutational spectrum with nine novel disease-causing variants, of which eight might be associated with South American natives.</p></sec>