ArticleMolecular vision2012
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.Molecular medicine reports · 2018Article
- Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.International journal of molecular medicine · 2018Article
- Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.International journal of molecular medicine · 2018Article
- Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.Molecular medicine reports · 2018Article
- Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a NovelJournal of ophthalmology · 2018Article
- FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.Molecular medicine reports · 2017Article
- C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.Molecular medicine reports · 2017Article
- Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.Molecular medicine reports · 2017Article
- Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.Molecular medicine reports · 2017Article
- Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Scientific reports · 2017Article
- Proteotoxic Stress Desensitizes TGF-beta Signaling Through Receptor Downregulation in Retinal Pigment Epithelial Cells.Current molecular medicine · 2017Article
- A novel duplication in the PAX6 gene in a North Indian family with aniridia.International ophthalmology · 2014Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the paired box 6 (PAX6) gene in two sporadic patients from southern China presenting with classic aniridia.
methodsThe two sporadic patients underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from the leukocytes of the peripheral blood collected from the families of the two sporadic patients and 100 unrelated control subjects from the same population. Exons 4-13 of PAX6 were amplified by polymerase chain reaction (PCR) and sequenced directly. The ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, optical coherence tomography, and Pentacam and Goldmann perimetry.
resultsThe two patients were affected with aniridia accompanied by nystagmus. A heterozygous PAX6 frameshift mutation in exon 7, c.375_376delAG (p.Arg125SerfsX7), was identified in sporadic patient 1 and not in any of the unaffected family members and normal controls. One novel mutation in exon 10, c.868_871dupAGTT (p.Phe291X), was detected in sporadic patient 2. The frameshift mutation we identified has not previously been reported either in China or abroad.
conclusionsAlthough PAX6 mutations and polymorphisms have been reported in various ethnic groups, we report, for the first time, the identification of one new PAX6 mutation in Chinese aniridia patient.
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Identifiers
22919266PMC3425573W2225087230What OpenQuestion holds
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