A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters’ anomaly

The PAX6 gene is involved in ocular embryogenesis. This gene seems to be the master control gene for morphogenesis of the eye. Mutations in the PAX6 gene have been detected in various ocular anomalies suspected to have bilateral genetic backgrounds during development, including aniridia, Peters’ anomaly,1 and foveal hypoplasia.2 In 1994, a sporadic case of Peters’ anomaly and a small family with a range of anterior segment malformations, including Peters’ anomaly, were shown to have a mutation of the PAX6 gene.1 More recently, Azuma et al reported a subject with Peters’ anomaly having a missense mutation in the alternative splice region of the PAX6 gene in 1999.3 Here we report a novel PAX6 gene mutation in a patient with Peters’ anomaly. The present study had the approval of Kyoto Prefectural University of Medicine ethics committee and was conducted in accordance with the World Medical Association Declaration of Helsinki. Genomic DNA samples were isolated from the whole blood of patients and their relatives after informed consent. Each exon of the PAX6 …