The interest of large deletions screening in the PAX6 gene mutations analysis in aniridia

Aniridia is a rare congenital disorder with an autosomal dominant mode of inheritance.The disease-causing gene is the PAX6 gene located on chromosome 11p13.Both intragenic mutations and large deletions of the PAX6 gene lead to aniridia,therefore,screening for large deletions of this gene should be included in the analysis of patients with aniridia.The methods used in detecting large deletions of the PAX6 gene include stand cytogenetics G binding,fluorescent in situ hybridization (FISH),multiplex amplification and probe hybridization (MAPH),and multiplex ligation-dependent probe amplification (MLPA).With a higher resolution than FISH and allowing a more rapid analysis,MLPA is the most popular method for the detection of large deletions in the PAX6 gene. Key words: aniridia;  PAX6 gene;  large deletion