A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Ophthalmic Genet
; 40(2): 177-181, 2019 04.
Article
em En
| MEDLINE
| ID: mdl-31012789
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
/
Mutação de Sentido Incorreto
/
Isocitrato Desidrogenase
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Suíça