| Autor: |
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Genetics and Molecular Biology, Iss 0 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1678-4685 |
| DOI: |
10.1590/1678-4685-gmb-2018-0092 |
| Popis: |
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected families, leading to an appropriate genetic counseling and a better outcome for current therapies, since enzyme replacement therapies have been approved in Brazil for Gaucher, Fabry, and Pompe diseases, and are under development for Niemann-Pick Type B. However, application of next-generation sequencing (NGS) technology in the clinical diagnostic setting requires a previous validation phase. Here, we assessed the application of this technology as a fast, accurate, and cost-effective method to determine genetic diagnosis in selected LSDs. We have designed two panels for testing simultaneously 11 genes known to harbor casual mutations of LSDs. A cohort of 58 patients was used to validate those two panels, and the clinical utility of these gene panels was tested in four novel cases. We report the assessment of a NGS approach as a new tool in the diagnosis of LSDs in our service. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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