ArticleBMC medical genetics2004
PAX6 gene variations associated with aniridia in south India.
Article in BMC medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Clinical and molecular aspects of congenital aniridia - A review of current concepts.Indian journal of ophthalmology · 2022Review
- Case series: Pyramidal cataracts, intact irides and nystagmus from three novelAmerican journal of ophthalmology case reports · 2018Article
- Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Molecular vision · 2015Article
- Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Molecular vision · 2012Article
- Mutation spectrum of PAX6 in Chinese patients with aniridia.Molecular vision · 2011Article
- A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.Molecular vision · 2010Article
- AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.Molecular vision · 2009Article
- Genotype/phenotype association in Indian congenital aniridia.Indian journal of pediatrics · 2009Review
- Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Molecular vision · 2008Article
- Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.BMC ophthalmology · 2006Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south Indian population.
methodsTotal genomic DNA was isolated from peripheral blood of twenty-eight members of six clinically diagnosed aniridia families and 60 normal healthy controls. The coding exons of the human PAX6 gene were amplified by PCR and allele specific variations were detected by single strand conformation polymorphism (SSCP) followed by automated sequencing.
resultsThe sequencing results revealed novel PAX6 mutations in three patients with sporadic aniridia: c.715ins5, [c.1201delA; c.1239A>G] and c.901delA. Two previously reported nonsense mutations were also found: c.482C>A, c.830G>A. A neutral polymorphism was detected (IVS9-12C>T) at the boundary of intron 9 and exon 10. The two nonsense mutations found in the coding region of human PAX6 gene are reported for the first time in the south Indian population.
conclusionThe genetic analysis confirms that haploinsuffiency of the PAX6 gene causes the classic aniridia phenotype. Most of the point mutations detected in our study results in stop codons. Here we add three novel PAX6 gene mutations in south Indian population to the existing spectrum of mutations, which is not a well-studied ethnic group. Our study supports the hypothesis that a mutation in the PAX6 gene correlates with expression of aniridia.
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