NOVEL INTRONIC VARIANTS IN UNCONVENTIONAL GENE CLUSTER COULD LEAD TO THE IDENTIFICATION OF A NEW RETINITIS PIGMENTOSA PHENOTYPE

• Main Author: Luigi Donato
• Format: Article
• Language: English
• Published: Associazione Italiana Giovani Medici 2017-04-01
• Series: Euromediterranean Biomedical Journal
• Subjects: Retinal dystrophies; polymorphisms; Next generation sequencies; predictions.
• Online Access: http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=287

The Retinitis pigmentosa (RP) is an inherited heterogeneous ocular disorder characterized by progressive retinal degeneration. Although at least 50 genes are known to be causative of RP, many others are still unidentified. We describe a Sicilian female patient affected by an unknown form of RP. She was screened by Whole Genome Sequencing, and the subsequent variant analysis was integrated with filtering and pathway analysis and enrichment. Finally, the relevant variants were analyzed in silico to establish their potential effects. Based on previous analyses, 15 intronic variants, distributed across 6 genes (EYS, PPEF2, RNF144B, RDH13, FLT3 and MYO7A), were selected as potential candidates for disease association. Finally, the consequent in silico analysis highlighted their possible role in splicing alterations. The involvement of these genes in the pathogenesis of RP and the newly discovered role of splicing alteration events may offer new insights into the diagnosis of unknown forms of retinitis pigmentosa.