ArticleJournal of medical genetics1997
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.Genes · 2022Pooled it
- Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.Experimental eye research · 2024Article
- The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.Clinical & experimental ophthalmology · 2022Review
- Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.Molecular medicine reports · 2018Article
- NovelHuman genome variation · 2017Article
- Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Molecular vision · 2015Article
- Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.BMC ophthalmology · 2014Review
- Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.Human genome variation · 2014Article
- Mutation spectrum of PAX6 in Chinese patients with aniridia.Molecular vision · 2011Article
- Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).Diabetologia · 2009Article
- Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Molecular vision · 2008Article
- PAX6 gene variations associated with aniridia in south India.BMC medical genetics · 2004Article
- Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.American journal of human genetics · 2002Article
- The molecular basis of malonyl-CoA decarboxylase deficiency.American journal of human genetics · 1999Article
- The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.Journal of medical genetics · 1998Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. Mutations were detected in 90% of the cases. Three mutation detection techniques were used to determine if one method was superior for this gene. The protein truncation test (PTT) was used on RT-PCR products, SSCP on genomic PCR amplifications, and chemical cleavage of mismatch on both RT-PCR and genomic amplifications. For RT-PCR products, only the translated portion of the gene was screened. On genomic products exons 1 to 13 (including 740 bp of the 3' untranslated sequence and all intron/exon boundaries) were screened, as was a neuroretina specific enhancer in intron 4. Ten of the possible 12 mutations in the five familial cases and five of the sporadic patients were found, all of which conformed to a functional outcome of haploinsufficiency. Five were splice site mutations (one in the donor site of intron 4, two in the donor site of intron 6, one in each of the acceptor sites of introns 8 and 9) and five were nonsense mutations in exons 8, 9, 10, 11, and 12. SSCP analysis of individually amplified exons, with which nine of the 10 mutations were seen, was the most useful detection method for PAX6.
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