Oguchi type I caused by a homozygous missense variation in the SAG gene.
Night blindness
Novel mutation
Oguchi disease
SAG
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
25
04
2018
revised:
28
08
2018
accepted:
26
09
2018
pubmed:
30
9
2018
medline:
21
1
2020
entrez:
30
9
2018
Statut:
ppublish
Résumé
Oguchi disease, is a very rare form of night blindness caused by biallelic variations in the SAG or GRK1 genes, both involved in rod restoration after light stimuli. Here we report the clinical and genetic findings of an 8-year old boy with a history of reduced visual acuity, nyctalpia and hemeralopia. Clinical findings, in particular the Mizuo-Nakamura phenomenon, were compatible with a diagnosis of Oguchi disease. Genetic testing revealed a novel missense homozygous variation in the SAG gene. This is the first evidence that the disease can be caused by missense variations in this gene.
Identifiants
pubmed: 30267901
pii: S1769-7212(18)30300-8
doi: 10.1016/j.ejmg.2018.09.015
pii:
doi:
Substances chimiques
Calcium-Binding Proteins
0
DMBT1 protein, human
0
DNA-Binding Proteins
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103548Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.