1. Next generation sequencing in the diagnosis of Stargardt's disease
- Author
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V.E.F. Montaño, Susana Noval, B. Jimenez-Rolando, Rubén Martín-Arenas, Carlos Ibáñez, Elena Vallespín, J.C. Silla, A. del Pozo, I. Rosa-Perez, and E. Mata Diaz
- Subjects
0301 basic medicine ,Genetics ,genetic structures ,biology ,business.industry ,ABCA4 ,General Medicine ,Disease ,Macular dystrophy ,Bioinformatics ,eye diseases ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Mutation (genetic algorithm) ,030221 ophthalmology & optometry ,biology.protein ,Eye disorder ,Medicine ,Allelic heterogeneity ,business ,Gene ,Exome sequencing - Abstract
Introduction Stargardt's disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by mutations in ABCA4 gene with an autosomal recessive inheritance. ABCA4 is a very polymorphic and large gene containing 50 exons. The development of next generation sequencing (NGS) can be used for the genetic diagnosis of this disease. Patients and methods A report is presented on two patients with a clinical diagnosis of Stargardt's disease whose genetic confirmation was performed by a NGS panel of 298 genes. Results Clinically, the patients showed bull's eye maculopathy and absence of flecks, and genetically they shared the Gly1961Glu mutation that could explain their common phenotype, together with c.C3056T:p.T1019M for case 1, and c.287del:p.Asn96Thrfs*19 for case 2. Conclusions NGS is particularly useful in the diagnosis of Stargardt's disease as ABCA4 is a large gene with a high allelic heterogeneity that causes a wide range of clinical manifestations.
- Published
- 2018
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