ArticleMolecular vision2011
Mutation spectrum of PAX6 in Chinese patients with aniridia.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.Orphanet journal of rare diseases · 2024Article
- Clinical and molecular aspects of congenital aniridia - A review of current concepts.Indian journal of ophthalmology · 2022Review
- Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.JCI insight · 2021Observational
- Mutation spectrum ofMolecular vision · 2020Article
- An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.Translational vision science & technology · 2019Article
- Article
- Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a NovelJournal of ophthalmology · 2018Article
- Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Molecular vision · 2015Article
- Mutation analysis of paired box 6 gene in inherited aniridia in northern China.Molecular vision · 2013Article
- Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.Molecular vision · 2012Article
- A novel PAX6 deletion in a Chinese family with congenital aniridia.Molecular vision · 2012Article
- New horizons in aniridia management: Clinical insights and therapeutic advances.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population.
methodsUnrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that lacked detectable variations based on sequencing (14 new and six previously analyzed) were further analyzed using multiplex ligation-dependent probe amplification (MLPA).
resultsFifteen mutations were identified in 16 of the 33 families: c.[65_94del30; 99_105dup7], c.101_102insA, c.177delG, c.238_239insGCGA, c.1033-42_1033-26del17insG, c.1A>G, c.120C>A, c.718C>T, c.949C>T, c.1062C>A, c.1183G>A, c.1268A>T, and three gross deletions involving exons 1-14, exons 8-14, and exons 9-14. The first five mutations were novel and the c.1268A>T mutation was present in two families. Phenotypic variations were observed between families and between different affected patients within the families.
conclusionsThe PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups. Further studies of the 17 families with no detected mutations may provide additional information to improve the understanding of the molecular genetics of aniridia.
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Identifiers
21850189PMC3156780W1520422965What OpenQuestion holds
Registered trials
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