May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Novel PAX6 Gene Mutations in Patients with Various Congenital Ocular Abnormalities
Author Affiliations & Notes
  • Y. Nanjo
    Dept Ophthalmology, Kyoto Prefec Univ Med, Kyoto, Japan
  • S. Kawasaki
    Dept Ophthalmology, Kyoto Prefec Univ Med, Kyoto, Japan
  • T. Inatomi
    Dept Ophthalmology, Kyoto Prefec Univ Med, Kyoto, Japan
  • K. Mori
    Dept Ophthalmology, Kyoto Prefec Univ Med, Kyoto, Japan
  • C. Sotozono
    Dept Ophthalmology, Kyoto Prefec Univ Med, Kyoto, Japan
  • S. Kinoshita
    Dept Ophthalmology, Kyoto Prefec Univ Med, Kyoto, Japan
  • Footnotes
    Commercial Relationships  Y. Nanjo, None; S. Kawasaki, None; T. Inatomi, None; K. Mori, None; C. Sotozono, None; S. Kinoshita, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 839. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Y. Nanjo, S. Kawasaki, T. Inatomi, K. Mori, C. Sotozono, S. Kinoshita; Novel PAX6 Gene Mutations in Patients with Various Congenital Ocular Abnormalities . Invest. Ophthalmol. Vis. Sci. 2003;44(13):839.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: PAX6 gene has been shown to be involved in various ocular disorders, especially aniridia. The purpose of this study is to report new mutations in PAX6 gene for congenital ocular abnormalities including aniridia. Methods: A total of 30 samples from patients with anterior segment abnormalities, isolated or associated with other congenital abnormalities such as congenital glaucoma, were collected. The DNA samples were examined by PCR amplification of the gene regions and further analysis of the obtained PCR products by directed sequencing for variants in the gene sequence. Results: Three novel mutations were identified: a patient with aniridia, corneal epithelial stem cell deficiency and congenital cataract showed a nonsense mutation of Try162End (TGG>TAG), a patient with Peters’ anomaly showed a missense mutation of Glu38Arg (CAA>CGA) and a patient with sclerocornea showed a missense mutation of Gly183Ser (GGG>GCG). Conclusions: To our knowledge, this report is the first one to show the relationship between these three mutations and the corresponding congenital eye diseases. Especially, the mutation in the patient with sclerocornea is the first report to show the relevance of PAX6 gene to this disease. The accumulation of mutational cases is considered to be useful for the functional analysis of this gene.

Keywords: cornea: basic science • gene/expression • glycoconjugates/glycoproteins 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×