ArticleEuropean journal of human genetics : EJHG2019
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 39 citations in OpenAlex.
- Functional analysis of a splicing variant of the DOCK8 gene in a patient with breast cancer (Buryat ethnicity).Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Functional Characterization ofInternational journal of molecular sciences · 2025Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.Journal of cellular and molecular medicine · 2025Article
- The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of theInternational journal of molecular sciences · 2025Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- An Unusual Presentation of Novel Missense Variant inCurrent issues in molecular biology · 2023Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Evaluation of Pathogenicity and Causativity of Variants in theInternational journal of molecular sciences · 2023Article
- Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants inInternational journal of molecular sciences · 2023Article
- Review
- Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.NPJ genomic medicine · 2022Article
- Relative Frequencies ofInternational journal of molecular sciences · 2022Review
- Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.JCI insight · 2021Observational
- Article
- Functional Analysis of theInternational journal of molecular sciences · 2021Article
- Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.Frontiers in neurology · 2021Article
- Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.BMC medical genetics · 2020Article
- Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nucleotide variants that disrupt normal splicing might be the cause of a large number of diseases. Nevertheless, because of the complexity of splicing regulation, it is not always possible to accurately predict the effect of nucleotide sequence changes on splicing events and mRNA structure. Thereby, a number of newly identified nucleotide variants are falsely classified as VUS (a variant of uncertain significance). In the present study we used the minigene assay to analyze the functional consequences of six intronic (c.142-5T>G, c.142-14C>G, c.142-64A>C, c.141+4A>G, c.1032+ 6T>G, c.682+4delA), one missense (c.140A>G) and one synonymous (c.174C>T) variants in the PAX6 gene found in patients with congenital aniridia. We revealed that all except one (c.142-64A>C) variants lead to the disruption of normal splicing patterns resulting in premature termination codon formation followed by mRNA degradation through the nonsense mediated decay pathway. This produces a null allele of the PAX6 gene. That allowed us to reclassify the analyzed variants as loss-of-function and to establish their functional role.
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