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.
- PAX6 mutations
- eye malformations
- PCR, polymerase chain reaction
- SSCP, single stranded conformational polymorphism
- WAGR, Wilms’s tumour, aniridia, genitourinary abnormalities, and mental retardation
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