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Three novel PAX6 mutations in patients with aniridia

¹ Department of Paediatrics, Martin-Luther-University, University Hospital, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany
² Department 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

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.

Keywords: aniridia; PAX6 mutations; eye malformations

Abbreviations: PCR, polymerase chain reaction; SSCP, single stranded conformational polymorphism; WAGR, Wilms’s tumour, aniridia, genitourinary abnormalities, and mental retardation

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