NOVEL INTRONIC VARIANTS IN UNCONVENTIONAL GENE CLUSTER COULD LEAD TO THE IDENTIFICATION OF A NEW RETINITIS PIGMENTOSA PHENOTYPE
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. Sh...
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| Format: | Article |
| Language: | English |
| Published: |
Associazione Italiana Giovani Medici
2017-04-01
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| Series: | Euromediterranean Biomedical Journal |
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| Online Access: | http://www.embj.org/joomla335/index.php?option=com_k2&view=item&id=287 |
| Summary: | 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. |
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| ISSN: | 2279-7165 2279-7165 |