ArticleClinical genetics2016
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Single-cell RNA sequencing reveals roles of unique retinal microglia types in early diabetic retinopathy.Diabetology & metabolic syndrome · 2024Article
- Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.Molecular vision · 2022Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.Scientific reports · 2018Article
- Chromosomal instability in women with primary ovarian insufficiency.Human reproduction (Oxford, England) · 2018Article
- Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.Human genome variation · 2016Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
The human X chromosome contains ∼ 1600 genes, about 15% of which have been associated with a specific genetic condition, mainly affecting males. Blue cone monochromacy (BCM) is an X-linked condition caused by a loss-of-function of both the OPN1LW and OPN1MW opsin genes. The cone opsin gene cluster is composed of 2-9 paralogs with 99.8% sequence homology and is susceptible to deletions, duplications, and mutations. Current diagnostic tests employ polymerase chain reaction (PCR)-based technologies; however, alterations remain undetermined in 10% of patients. Furthermore, carrier testing in females is limited or unavailable. High-resolution X chromosome-targeted CGH microarray was applied to test for rearrangements in males with BCM and female carriers from three unrelated families. Pathogenic alterations were revealed in all probands, characterized by sequencing of the breakpoint junctions and quantitative real-time PCR. In two families, we identified a novel founder mutation that consisted of a complex 3-kb deletion that embraced the cis-regulatory locus control region and insertion of an additional aberrant OPN1MW gene. The application of high-resolution X-chromosome microarray in clinical diagnosis brings significant advantages in detection of small aberrations that are beyond the resolution of clinically available aCGH analysis and which can improve molecular diagnosis of the known conditions and unravel previously unrecognized X-linked diseases.
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