RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations
Open accessAbstract
It has been previously reported that mutations in retinal G protein coupled receptor (RGR) are associated with retinitis pigmentosa. The present study aims to systemically analyze the potential role of variants of RGR in retinal diseases. Variants in coding regions and splice sites of RGR were selected from a whole exome sequencing dataset of 820 probands with various forms of genetic ocular diseases. Potential variants of RGR were further confirmed by Sanger sequencing and analyzed in available family members. Clinical data was reviewed for patients with RGR variants. As a result, a total of five variants in RGR were detected in six probands with different types of ocular diseases. Of the five variants, two were novel heterozygous truncation variations, c.266C>A (p.S89*) and c.722_723delCC (p.S241Yfs*29), identified in two probands with high myopia and confirmed by Sanger sequencing. Segregation analysis on available family members demonstrated p.S89* and p.S241Yfs*29 were also present in unaffected relatives. The other three variants of RGR were heterozygous missense variants randomly occurring in patients with different genetic ocular diseases. No homozygous or compound heterozygous variants were detected. The results of the present study suggested that the heterozygous truncation variants in RGR were less likely to be pathogenic. Further studies are expected to evaluate the pathogenicity of variants in RGR.
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In the RPE, an additional source of 11-cis-retinal is a pathway with retinal G protein-coupled receptor (RGR) as the key enzyme; RGR preferentially binds all-trans-retinal, and within RGR a photon of light converts all-trans-retinal to 11-cis-retinal.
“In RPE, an additional source of 11-cis-retinal is also a pathway with retinal G protein-coupled receptor (RGR) as the key enzyme. RGR is a RHO homologue, which, contrary to RHO, preferentially binds all-trans-retinal. Within RGR, a photon of light converts all-trans-retinal to 11-cis-retinal, the chromophore of the visual pigments.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [55]
RGR, together with RPE65, contributes to the regeneration of 11-cis-retinal.
“Therefore, RGR, together with RPE65, contributes to the regeneration of 11-cis-retinal [55,56,57,58].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [55]
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- Authors
- Li, J., Xiao, X., Li, S., Jia, X., Guo, X., & Zhang, Q.
- Affiliations
- Sun Yat-sen University (CN)
- Venue
- Molecular Medicine Reports
- Publisher
- Spandidos Publications
- Published
- 2016-10-13
- Volume
- 14
- Issue
- 5
- Pages
- 4811-4815
- ISSN
- 1791-2997 (ISSN-L)
- 1791-3004
- OpenAlex
- W2531604518
- Cited by
- 8
- References
- 16
- Citations by year
- 2026: 1 · 2025: 2 · 2023: 1 · 2022: 2 · 2021: 2
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Medicine Reports (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (U1201221)
- Natural Science Foundation of Guangdong Province (S2013030012978)
- State Key Laboratory of Ophthalmology
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Keywords
- retinitis pigmentosa, truncating mutations, missense mutations, high myopia, variant pathogenicity, segregation analysis, novel variants
- MeSH terms
- DNA Mutational Analysis, Eye Proteins, Humans, Mutation, Ophthalmoscopy, Pedigree, Retina, Retinal Diseases, Genetic Variation, Genetic Predisposition to Disease, Receptors, G-Protein-Coupled, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Exome
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