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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa |
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| Authors: | Virginie G Peter Konstantinos Nikopoulos Mathieu Quinodoz Lotta Granse Pietro Farinelli Andrea Superti-Furga |
| Institution: | 1. Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland;2. Department of Genetics and Genome Biology, University of Leicester, Leicester, UK;3. Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland;4. Department of Ophthalmology, University of Lund, Lund, Sweden;5. Department of Biology, University of Copenhagen, Copenhagen, OE, Denmark;6. Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland |
| Abstract: | Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity. Methods: Complete ophthalmic examination and next-generation sequencing. Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A. |
| Keywords: | IDH3A retinitis pigmentosa isocitrate dehydrogenase |