ArticleHuman mutation2020
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 37 citations in OpenAlex.
- New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.NPJ genomic medicine · 2025Article
- Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.The Journal of pathology · 2025Article
- Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.NPJ genomic medicine · 2025Article
- Pathogenic Deep Intronic Variant inCase reports in genetics · 2025Article
- A Leaky Deep Intronic Splice Variant inGenes · 2024Article
- Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.International journal of molecular sciences · 2024Article
- Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.Genome medicine · 2024Article
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient.Human mutation · 2024Article
- Alternative RNA Splicing in the Retina: Insights and Perspectives.Cold Spring Harbor perspectives in medicine · 2023Review
- Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.Journal of personalized medicine · 2023Article
- Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.American journal of human genetics · 2022Article
- Whole-Genome Sequencing Reveals the Genomic Characteristics and Selection Signatures of Hainan Black Goat.Genes · 2022Article
- Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.Communications biology · 2022Article
- Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.NPJ genomic medicine · 2021Article
- Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.Ophthalmology science · 2021Article
- Paternal Uniparental Isodisomy of Chromosome 2 in a Patient withInternational journal of molecular sciences · 2021Article
- Article
- Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.International journal of molecular sciences · 2021Observational
- Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy.Frontiers in aging neuroscience · 2021Article
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Authors and funding
25 authors at 17 institutions in 11 countries.
Funding
Abstract
Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number of cases (~5%) harboring only a single pathogenic variant in the major ACHM gene CNGB3. We sequenced the entire CNGB3 locus in 33 of these patients to find a second variant which eventually explained the patients' phenotype. Forty-seven intronic CNGB3 variants were identified in 28 subjects after a filtering step based on frequency and the exclusion of variants found in cis with pathogenic alleles. In a second step, in silico prediction tools were used to filter out those variants with little odds of being deleterious. This left three variants that were analyzed using heterologous splicing assays. Variant c.1663-1205G>A, found in 14 subjects, and variant c.1663-2137C>T, found in two subjects, were indeed shown to exert a splicing defect by causing pseudoexon insertion into the transcript. Subsequent screening of further unsolved CNGB3 subjects identified four additional cases harboring the c.1663-1205G>A variant which makes it the eighth most frequent CNGB3 variant in our cohort. Compound heterozygosity could be validated in ten cases. Our study demonstrates that whole gene sequencing can be a powerful approach to identify the second pathogenic allele in patients apparently harboring only one disease-causing variant.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.