RT Journal Article
SR Electronic
T1 Three novel PAX6 mutations in patients with aniridia
JF Molecular Pathology
JO Mol Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 180
OP 183
DO 10.1136/mp.56.3.180
VO 56
IS 3
A1 W Zumkeller
A1 U Orth
A1 A Gal
YR 2003
UL http://mp.bmj.com/content/56/3/180.abstract
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.