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