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Three novel PAX6 mutations in patients with aniridia
1Department of Paediatrics, Martin-Luther-University, University Hospital, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany. walter.zumkeller@medizin.uni-halle.de
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.
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