PT  - JOURNAL ARTICLE
AU  - W Zumkeller
AU  - U Orth
AU  - A Gal
TI  - Three novel PAX6 mutations in patients with aniridia
AID  - 10.1136/mp.56.3.180
DP  - 2003 Jun 01
TA  - Molecular Pathology
PG  - 180--183
VI  - 56
IP  - 3
4099  - http://mp.bmj.com/content/56/3/180.short
4100  - http://mp.bmj.com/content/56/3/180.full
SO  - Mol Pathol2003 Jun 01; 56
AB  - 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.