Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Front Genet
; 12: 646058, 2021.
Article
em En
| MEDLINE
| ID: mdl-33841504
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
País/Região como assunto:
America do sul
/
Argentina
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article