Three novel PAX6 mutations in patients with aniridia
- 1Department of Paediatrics, Martin-Luther-University, University Hospital, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany
- 2Department of Human Genetics, University Hospital Eppendorf, Martinstr. 52, 20246 Hamburg, Germany
- Correspondence to: Dr W Zumkeller, Martin-Luther-University Halle-Wittenberg, University Hospital, Department of Paediatrics, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany; walter.zumkeller{at}medizin.uni-halle.de
- Accepted 11 March 2003
Abstract
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.
- PCR, polymerase chain reaction
- SSCP, single stranded conformational polymorphism
- WAGR, Wilms’s tumour, aniridia, genitourinary abnormalities, and mental retardation
