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Abstract #9131 Published in IGR 5-2
Three novel PAX6 mutations in patients with aniridia
Zumkeller W; Orth U; Gal AJournal of Clinical Pathology Molecular Pathology 2003; 56: 180-183
AIMS: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families. METHODS: The PAX6 gene was analyzed 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.
Dr. W. Zumkeller, Martin Luther Univ. Halle Wittenberg, University Hospital, Department of Paediatrics, Ernst Grube Strasse 40, 06097 Halle/Saale, Germany. walter.zumkeller@medizin.uni halle.de
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
