ArticleMolecular medicine reports2016
A novel missense mutation of the GRK1 gene in Oguchi disease.
Article in Molecular medicine reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- 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
- New variants and in silico analyses in GRK1 associated Oguchi disease.Human mutation · 2021Article
- A Homozygote Mutation inIranian journal of public health · 2020Article
- Clinical Findings in Four Siblings with Genetically Proven Oguchi Disease.Journal of current ophthalmologyArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S‑antigen (SAG) and G‑protein‑dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to have characteristic clinical features of Oguchi disease. Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. Homozygosity at position 308, which resides in the catalytic domain of the GRK1 gene, is the cause of Oguchi disease in this Turkish family.
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