ArticleHuman genetics2018
Implication of non-coding PAX6 mutations in aniridia.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 54 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- 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
- Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.Birth defects research · 2024Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.Investigative ophthalmology & visual science · 2024Article
- A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.Journal of human genetics · 2024Article
- Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.Nature communications · 2024Article
- Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.Journal of medical genetics · 2024Article
- The first review on prenatal drug exposure and ocular malformation occurrence.Frontiers in pediatrics · 2024Review
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.Human genomics · 2023Article
- Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.European journal of human genetics : EJHG · 2023Article
- A NovelJournal of personalized medicine · 2023Article
- Dynamic changes in whole genome DNA methylation, chromatin and gene expression during mouse lens differentiation.Epigenetics & chromatin · 2023Article
- Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants inInternational journal of molecular sciences · 2023Article
- Diversity of clinical phenotypes in a cohort of Han Chinese patients withFrontiers in genetics · 2023Article
- PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.Investigative ophthalmology & visual science · 2020Article
- Mutation spectrum ofMolecular vision · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 7 institutions in 2 countries.
Funding
Abstract
There is an increasing implication of non-coding regions in pathological processes of genetic origin. This is partly due to the emergence of sophisticated techniques that have transformed research into gene expression by allowing a more global understanding of the genome, both at the genomic, epigenomic and chromatin levels. Here, we implemented the analysis of PAX6, whose coding loss-of-function variants are mainly implied in aniridia, by studying its non-coding regions (untranslated regions, introns and cis-regulatory sequences). In particular, we have taken advantage of the development of high-throughput approaches to screen the upstream and downstream regulatory regions of PAX6 in 47 aniridia patients without identified mutation in the coding sequence. This was made possible through the use of custom targeted resequencing and/or CGH array to analyze the entire PAX6 locus on 11p13. We found candidate variants in 30 of the 47 patients. 9/30 correspond to the well-known described 3' deletions encompassing SIMO and other enhancer elements. In addition, we identified numerous different variants in various non-coding regions, in particular untranslated regions. Among these latter, most of them demonstrated an in vitro functional effect using a minigene strategy, and 12/21 are thus considered as causative mutations or very likely to explain the phenotypes. This new analysis strategy brings molecular diagnosis to more than 90% of our aniridia patients. This study revealed an outstanding mutation pattern in non-coding PAX6 regions confirming that PAX6 remains the major gene for aniridia.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.