@article {Zumkeller180, author = {W Zumkeller and U Orth and A Gal}, title = {Three novel PAX6 mutations in patients with aniridia}, volume = {56}, number = {3}, pages = {180--183}, year = {2003}, doi = {10.1136/mp.56.3.180}, publisher = {BMJ Publishing Group Ltd}, 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 {\textrightarrow} T) nonsense mutation in exon 8. The same mutation was found in his mother and sister. Another patient had a heterozygous Q297X (1252C {\textrightarrow} T) mutation in exon 10. The third patient carried a heterozygous IVS5+2T {\textrightarrow} C mutation leading to aberrant splicing of mRNA. Conclusions: These findings provide further examples of haploinsufficiency of PAX6 in aniridia.}, issn = {1366-8714}, URL = {https://mp.bmj.com/content/56/3/180}, eprint = {https://mp.bmj.com/content/56/3/180.full.pdf}, journal = {Molecular Pathology} }