A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
IDH3A
isocitrate dehydrogenase
retinitis pigmentosa
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
pubmed:
24
4
2019
medline:
14
3
2020
entrez:
24
4
2019
Statut:
ppublish
Résumé
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.
Sections du résumé
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.
Identifiants
pubmed: 31012789
doi: 10.1080/13816810.2019.1605391
doi:
Substances chimiques
IDH3a protein, human
EC 1.1.1.41
Isocitrate Dehydrogenase
EC 1.1.1.41
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM