Three novel PAX6 mutations in patients with aniridia.

Aims: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families.

Methods: The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing.

Results: In one family, three individuals from two generations had aniridia, whereas in each of the other families only one member was affected. The first patient had the heterozygous Q221X (1023C --> T) nonsense mutation in exon 8. The same mutation was found in his mother and sister. Another patient had a heterozygous Q297X (1252C --> T) mutation in exon 10. The third patient carried a heterozygous IVS5+2T --> C mutation leading to aberrant splicing of mRNA.

Conclusions: These findings provide further examples of haploinsufficiency of PAX6 in aniridia.