{Reference Type}: Journal Article
{Title}: Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
{Author}: Mena MD;Moresco AA;Vidal SH;Aguilar-Cortes D;Obregon MG;Fandiño AC;Sendoya JM;Llera AS;Podhajcer OL;
{Journal}: Front Genet
{Volume}: 12
{Issue}: 0
{Year}: 2021
{Factor}: 4.772
{DOI}: 10.3389/fgene.2021.646058
{Abstract}: <B>UNASSIGNED: </B>To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.