A novel duplication in the PAX6 gene in a North Indian family with aniridia

Mutations in paired box gene 6 (PAX6) are the major cause of aniridia that may be associated with several other developmental anomalies of the eye, including microcornea in rare cases. Therefore, the purpose of this study was to identify the underlying genetic cause in a two-generation North Indian family diagnosed with aniridia. All the participants enrolled in the study, including the aniridia family and 20 healthy individuals (controls), underwent a comprehensive ophthalmic examination. Mutation screening was performed for the PAX6 gene by direct sequencing of the polymerase chain reaction products. A novel PAX6 duplication in exon 5 at position c.474dupC was identified in all three affected individuals from the family but not in the unaffected family members or unrelated controls. We reported a novel duplication in the PAX6 gene capable of causing the classic aniridia phenotype. This is the first report on the duplication in a North Indian family with autosomal dominant aniridia.