A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Peter, Virginie G. and Nikopoulos, Konstantinos and Quinodoz, Mathieu and Granse, Lotta and Farinelli, Pietro and Superti-Furga, Andrea and Andréasson, Sten and Rivolta, Carlo. (2019) A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic Genetics, 40 (2). pp. 177-181.

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Official URL: https://edoc.unibas.ch/82117/

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Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity.; Complete ophthalmic examination and next-generation sequencing.; 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.; 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.
Faculties and Departments:03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Ophthalmologie USB
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Ophthalmologie USB
09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB)
UniBasel Contributors:Rivolta, Carlo
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Taylor & Francis Group
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:12 Apr 2021 10:38
Deposited On:12 Apr 2021 10:38

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