Molecular Analysis of the PAX6 Gene in Korean Patients with Congenital Aniridia

1. Jung Ah Shin¹
2. Seok Joon Kong¹
3. Hyo Jin Chae²
4. Myung Shin Kim²
5. Sun Young Shin¹
6. Shin Hae Park¹

¹Departmemt of ophthalmology and visual science, Seoul St. Mary's hospital, Catholic university of Korea, Seoul, Korea1
²Departmemt of laboratory medicine, Seoul St. Mary's hospital, Catholic university of Korea, Seoul, Korea2

Purpose : Aniridia is a panocular autosomal dominant disorder in which the development of the iris, cornea, lens, angle, and retina is disturbed. PAX6 heterozygous mutations are well known to cause congenital aniridia. We performed a mutational analysis on PAX6 gene in 15 patients with congenital aniridia.

Method : Mutations were detected by direct sequencing from 15 unrelated patients with aniridia. All cases exhibited phenotypes that compatible with the severe end of the aniridia spectrum with associated ocular alterations.

Result : The mutation detection rate was 100 %. Seventeen different types of mutations were identified. Five mutations (p.Glu220X, p.Arg214Ser, p.Ser155ThrfsX52, p.Glu31CysfsX26, and IVS12+2T>C) were confirmed to be previously unreported: one nonsense, one missense, one frame shifting deletion, one frame shifting duplication and one splicing error.

Conclusion : This study confirms the PAX6 gene mutations in Korean aniridic patients and adds five novel mutations to the worldwide PAX6 mutational spectrum.