April 1998
Volume 39, Issue 5
Free
Articles  |   April 1998
Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.
Author Affiliations
  • N Azuma
    Department of Ophthalmology, National Children's Hospital, Tokyo, Japan.
  • M Yamada
    Department of Ophthalmology, National Children's Hospital, Tokyo, Japan.
Investigative Ophthalmology & Visual Science April 1998, Vol.39, 828-830. doi:
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    • Get Citation

      N Azuma, M Yamada; Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.. Invest. Ophthalmol. Vis. Sci. 1998;39(5):828-830.

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

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Abstract

PURPOSE: To report a rare case of ocular anterior segment anomalies including uveal ectropion of the iris, invasion of the conjunctival epithelia into the cornea, and posterior embryotoxon with a missense mutation of the PAX6 gene. METHODS: The authors performed polymerase chain reaction-single-strand conformation polymorphism analysis and sequencing of the PAX6 gene using genomic DNA of family members and more than 100 control subjects. RESULTS: The A to G transition at nucleotide 1682 in exon 13 in the patient was identified in an allele that resulted in a Gln to Arg substitution (Q422R) at the C terminus of the protein. The mutation was not found in the parents, a sibling, or control subjects. CONCLUSIONS: The mutation indicates that the proline-serine-threonine-rich domain at the C terminus of the PAX6 protein plays a role in ocular anterior segment morphogenesis.

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