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Juliana M F Sallum, Karita Antunes Costa, MARIANA SALLES, John Pei - wen Chiang; Genetic Testing Based on Next Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) in Brazilian Patients. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3156.
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© ARVO (1962-2015); The Authors (2016-present)
Determine the molecular basis of RP by NGS analyzing 132 genes related to Retinal Dystrophies in 16 patients diagnosed with RP. Retinitis Pigmentosa (RP;MIM#268000) is the most common subtype of hereditary retinal dystrophy clinically characterized by lost of peripheral visual field, night blindness and can be caused by mutations in a variety of genes. Understand the molecular basis and establish the molecular diagnostic for this disease is difficult due to the high genetic and clinical heterogeneity.
16 patients with clinical diagnosis of Retinitis Pigmentosa were included. Comprehensive phenotypic data were obtained. DNA was extracted from peripheral blood. Specific primers were designed to be used on a Illumina platform. The library dilution and capture were performed according to Illumina NGS platform protocol. NGS strategy was applied to identify mutations. Genomic variations was analyzed by predictions programs and data banks like the National Center for Biotechnology Information Search database (NCBI), Gene Cards, Human Gene Mutation Data (HGMD), Mutation Taster and Polyphen 2.
89 pathogenic variations werw found, but just 10 completed the exact allele number to become disease cause (table 1). Nine patients had probably positive results (table 1). Sanger sequencing confirmed the found variations. The "probably positive" term have been used due the check on literature about this variations still being made. Six patients had inconclusive results and one was negative. The literature report about a specific variant reinforces the probably positive results. The information about variations were analyzed in different data banks.
NGS was a very efficient molecular genetic tool to search for mutations in a RP patients group due to the fact that it can analyze a great amount of genes in the same test. At the light of the genetic results the patients could receive more precise genetic counselling regarding their Retinal Dystrophy.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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