PAX6 Mutations and Clinical Features of Congenital Aniridia.

Kim, Jong Ho; Hwang, Bo Sung; Lee, Jung Ho; Cha, Soon Cheol

doi:2008.49.11.1794

J Korean Ophthalmol Soc > Volume 49(11); 2008 > Article

Original Article

Journal of the Korean Ophthalmological Society 2008;49(11):1794-1800.
DOI: https://doi.org/10.3341/jkos.2008.49.11.1794 Published online November 15, 2008.

PAX6 Mutations and Clinical Features of Congenital Aniridia.

Jong Ho Kim, Bo Sung Hwang, Jung Ho Lee, Soon Cheol Cha

¹Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Koera. sccha@med.yu.ac.kr
²Cheil Eye Hospital, Daegu, Koera.

선천무홍채증 환자의 PAX6 유전자의 돌연변이와 임상양상

김종호¹ㆍ황보성¹ㆍ이정호²ㆍ차순철¹

Department of Ophthalmology, Yeungnam University College of Medicine¹, Daegu, Koera / Cheil Eye Hospital², Daegu, Koera

Abstract

PURPOSE
To report the PAX6 mutations and clinical features in Korean aniridia patients. METHODS: Genomic DNA was isolated from 12 aniridia patients and 5 normal controls. The coding regions of the PAX6 gene were analyzed by direct sequencing of polymerase chain reaction products. The relationship between the mutational types and the ophthalmic findings from medical records was determined. RESULTS: Mutation analysis demonstrated seven different types of mutations, five of which have not previously been reported. Notably, these mutations were confined to PD and LNK in the PAX6 gene. Although R44X and W156X were recurrent mutations, novel mutations included G18R, IVS6+1insG, A139P, A139A, and G141G. Glaucoma was found in five (42%, adult patients 30 years or older) of twelve patients, of whom four were male. CONCLUSIONS: This is the first report to identify the PAX6 gene mutations in Korean aniridia patients. Our limited data show that glaucoma was more prevalent in male and adult patients. Moreover, a patient's age along with the PAX6 genotype might be a factor related to glaucoma in aniridia patients.

Key Words: Aniridia;Glaucoma;Mutation;PAX6 gene