ArticleMolecular vision2012
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Article
- The Role of Individual Residues in the N-Terminus of Arrestin-1 in Rhodopsin Binding.International journal of molecular sciences · 2025Article
- Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.BMC ophthalmology · 2022Article
- A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report.BMC ophthalmology · 2022Article
- Oguchi's disease: two cases and literature review.The Journal of international medical research · 2021Review
- Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- A Homozygote Mutation inIranian journal of public health · 2020Article
- A novel missense mutation of the GRK1 gene in Oguchi disease.Molecular medicine reports · 2016Article
- Biology and therapy of inherited retinal degenerative disease: insights from mouse models.Disease models & mechanisms · 2015Review
- Changes in the harmonic components of the flicker electroretinogram during light adaptation.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Article
- A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.Molecular vision · 2013Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE).
methodsMutation analysis was done by sequencing two candidate genes, S-antigen (SAG; arrestin 1), associated with Oguchi type 1, and rhodopsin kinase (GRK1), associated with Oguchi type 2. In addition, the C677T variation in the methylenetetrahydrofolate reductase (MTHFR) gene was also screened in the family, to determine its probable association with hyperhomocysteinemia in the patient.
resultsSequencing of the SAG and GRK1 resulted in identifying a novel homozygous nonsense mutation (c.916G>T; p.Glu306*) in SAG, which in unaffected siblings either was present in a heterozygous state or absent. The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members.
conclusionsThis is the first report of Oguchi type 1 in a Pakistani patient due to a nonsense mutation (c.916G>T; p.Glu306*) in SAG. The neurologic and hematological abnormalities likely are not associated with the SAG variant.
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Identifiers
22665972PMC3365131W1486826068What OpenQuestion holds
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