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

[aniridia]

Mutations in paired box gene 6 (PAX 6 ) 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 PAX 6 gene by direct sequencing of the polymerase chain reaction products . A novel PAX 6 duplication in exon 5 at position c .474 dupC 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 PAX 6 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 .