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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 4610275
Author(s) Peter, Virginie G.; Nikopoulos, Konstantinos; Quinodoz, Mathieu; Granse, Lotta; Farinelli, Pietro; Superti-Furga, Andrea; Andréasson, Sten; Rivolta, Carlo
Author(s) at UniBasel Rivolta, Carlo
Year 2019
Title A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Journal Ophthalmic Genetics
Volume 40
Number 2
Pages / Article-Number 177-181
Keywords IDH3A; isocitrate dehydrogenase; retinitis pigmentosa
Mesh terms Electroretinography; Exome, genetics; Genes, Recessive; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Isocitrate Dehydrogenase, genetics; Male; Middle Aged; Mutation, Missense; Pedigree; Retinitis Pigmentosa, genetics; Visual Field Tests; Visual Fields; Whole Exome Sequencing
Abstract 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.
Publisher Taylor & Francis Group
ISSN/ISBN 1744-5094
edoc-URL https://edoc.unibas.ch/82117/
Full Text on edoc No
Digital Object Identifier DOI 10.1080/13816810.2019.1605391
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/31012789
 
   

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