ArticleScientific reports2018
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Review
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Expression of red/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function.Frontiers in neuroscience · 2024Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- The causal mutation in ARR3 gene for high myopia and progressive color vision defect.Scientific reports · 2023Article
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.International journal of molecular sciences · 2022Article
- Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants inInternational journal of molecular sciences · 2021Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.Japanese journal of ophthalmology · 2021Article
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Authors and funding
17 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM. In Case 1, only one gene was present. Abnormalities were found in the promoter, which had a mixed unique profile of first and downstream gene promoters and a -71A > C substitution. As the promoter was active in the reporter assay, the cause of BCM remains unclear. In Case 2, the same novel mutation, M273K, was present in exon 5 of both genes in a two-gene array. The mutant pigments showed no absorbance at any of the wavelengths tested, suggesting that the mutation causes pigment dysfunction. Case 3 had a large deletion including the locus control region and entire first gene. Case 4 also had a large deletion involving exons 2-6 of the first gene. As an intact LCR was present upstream and one apparently normal downstream gene was present, BCM in Case 4 was not ascribed solely to the deletion. The deletions in Cases 3 and 4 were considered to have been caused by non-homologous recombination.
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