TY - JOUR T1 - Three novel PAX6 mutations in patients with aniridia JF - Molecular Pathology JO - Mol Pathol SP - 180 LP - 183 DO - 10.1136/mp.56.3.180 VL - 56 IS - 3 AU - W Zumkeller AU - U Orth AU - A Gal Y1 - 2003/06/01 UR - http://mp.bmj.com/content/56/3/180.abstract N2 - 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. ER -