Supplementary Material for: Mutation Analysis of <i>PAX6</i> in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital Aniridia

<i>Aims:</i> Mutations in the<i> PAX6</i> are the major cause of congenital aniridia. The objective of this study was to analyze genetic mutations in<i> PAX6</i> in Chinese patients with congenital aniridia. <i>Methods:</i> Total genomic DNA was isolated from the peripheral blood of the aniridia patients, all healthy family members and 100 healthy volunteers. The 14 exons (including alternatively spliced exon 5a) of the<i> PAX6</i> gene were amplified by polymerase chain reaction, and the products were sequenced to identify the mutation. <i>Results:</i> Two mutations of<i> PAX6</i> were detected in exon 11 in the congenital aniridia patients. One mutation was caused by the duplication of the 4 nucleic acids CTCC (c.1286insCTCC), which would lead to a frameshift. The other mutation was caused by a transition from C to T (c.1311C → T), which would generate a stop codon. Neither mutation was present in the healthy family members or 100 healthy volunteers. <i>Conclusion:</i> We examined the exon sequence of the <i>PAX6</i> gene in a Chinese family and an unrelated individual with aniridia. The predicted outcome of both mutations is premature termination. The mutation found in the unrelated individual has not previously been reported and represents a new addition to the spectrum of mutations in<i> PAX6.</i>

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