A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia.</p><p><b>METHODS</b>Three aniridia patients from the family were undergone full ophthalmologic examinations. Genomic DNA was prepared from venous leukocytes from these three patients, five non-carriers in the family as well as 100 healthy normal controls. The coding regions of PAX6 gene were analyzed by PCR amplification, single-strand conformation polymorphism and direct DNA sequencing.</p><p><b>RESULTS</b>The sequencing result revealed one novel PAX6 mutation in the three patients with familial aniridia. The mutation is a 9 base pair(bp) deletion in exon 5 (c.483del9) that results in a putative PAX6 protein with in-frame deletions of aspartic acid, isoleucine and serine at the amino acids 41-43.</p><p><b>CONCLUSION</b>A PAX6 gene mutation beyond the existing spectrum of mutations has been identified in a northeastern Chinese family with aniridia. The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.</p>