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Current Eye Research Volume 37, 2012 - Issue 10
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Original Article

A Novel PAX6 Mutation in Chinese Patients with Severe Congenital Aniridia

Yan HeBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmic and Visual Science Key Laboratory, Beijing, China
,
Zhiqiang PanBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmic and Visual Science Key Laboratory, Beijing, ChinaCorrespondence[email protected]
&
Fei LuoBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmic and Visual Science Key Laboratory, Beijing, China
Pages 879-883 | Received 24 Feb 2012, Accepted 12 Apr 2012, Published online: 23 May 2012

REFERENCES

  • Nelson LB, Spaeth GL, Nowinski TS. et alAniridia. A review. Surv Ophthalmol 1984;28:621–642.
  • Quiring R, Walldorf U, Kloter U. et al Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. Science 1994;265:785–789.
  • Li W, Chen YT, Hayashida Y et al. Down-regulation of Pax6 is associated with abnormal differentiation of corneal epithelial cells in severe ocular surface diseases. J Pathol 2008;214:114–122.
  • Dansault A, David G, Schwartz C et al. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. Mol Vis 2007;13:511–523.
  • Idrees F, Vaideanu D, Fraser SG.et al A review of anterior segment dysgeneses. Surv Ophthalmol 2006;51:213–231.
  • Oron-Karni V, Farhy C, Elgart M et al. Dual requirement for Pax6 in retinal progenitor cells. Development 2008;135:4037–4047.
  • Freund CL, Gregory-Evans CY, Furukawa T et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997;91:543–553.
  • Xu HE, Rould MA, Xu W. et al Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding. Genes Dev 1999;13:1263–1275.
  • Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232–239.
  • Brauner SC, Walton DS, Chen TC. Aniridia. Int Ophthalmol Clin 2008;48:79–85.
  • Human PAX. (2009). 6 Allelic Variant Database. Leiden: Leiden University Medical Center.
  • Love J, Axton R, Churchill A. et al A new set of primers for mutation analysis of the human PAX6 gene. Hum Mutat 1998;12:128–134.
  • Tzoulaki I, White IM, Hanson IM. PAX6 mutations: Genotype-phenotype correlations. BMC Genet 2005;6:27.
  • Azuma N, Yamaguchi Y, Handa H et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 2003;72:1565–1570.
  • Neethirajan G, Hanson IM, Krishnadas SR. et al A novel PAX6 gene mutation in an Indian aniridia patient. Mol Vis 2003;9:205–209.
  • Hanson I, Churchill A, Love J et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 1999;8:165–172.
  • Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999;96:307–310.
  • Aruna M, Robert EF, Helen M et al. Paired Box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet 1994;54:801–811.
  • Brinckmann A, Rüther K, Williamson K et al. De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. J Mol Med 2007;85:163–168.
  • Henderson RA, Williamson K, Cumming S et al. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Eur J Hum Genet 2007;15:898–901.

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