ArticleMolecular vision2009
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 24 citations in OpenAlex.
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.JCI insight · 2021Observational
- Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.Molecular genetics & genomic medicine · 2020Article
- The genetic architecture of aniridia and Gillespie syndrome.Human genetics · 2019Review
- Identification of a novel PAX6 mutation in a Chinese family with aniridia.BMC ophthalmology · 2019Article
- Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.Human genome variation · 2014Article
- Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.Molecular vision · 2012Article
- Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Molecular vision · 2012Article
- A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.Molecular vision · 2012Article
- Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.BMC ophthalmology · 2011Article
- Genetics of anterior segment dysgenesis disorders.Current opinion in ophthalmology · 2011Review
- PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.Molecular vision · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMutations in the paired box 6 (PAX6)gene cause a wide variety of eye anomalies, including aniridia. PAX6 mutations are not well described in the Chinese population so this study is aimed at exploring the role of PAX6 mutations in Taiwanese patients with congenital eye anomalies.
methodsSeventeen patients with single or multiple congenital eye anomalies were enrolled. Genomic DNA was prepared from venous blood leukocytes, and the coding regions of PAX6 were analyzed by PCR and direct sequencing. Clinical manifestations of the patients were then correlated to PAX6 mutations.
resultsFive PAX6 mutations were identified in one case each. Three mutations c.317T>A (p.L106X), c.142-1G>T, and c.656del10 (p.Q219QfsX20) were novel and the other two, c.331delG (p.V111SfsX13) and c.949C>T (p.R317X), have been reported. All five cases had aniridia; three had other eye anomalies; and four had developmental delay. Only one case had other affected family members. In the ten cases that had no PAX6 mutation, only one had aniridia.
conclusionsBoth novel and known PAX6 mutations were identified in the current study, and PAX6 mutations were closely associated with aniridia. Absence of a positive family history does not exclude PAX6 mutation. The frequent occurrence of developmental delay in patients with PAX6 mutation argues for a prompt diagnosis of the disease.
Indexed as
Identifiers
19898691PMC2773736W1526594323What 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.