선천무홍채증 환자의 PAX6 유전자의 돌연변이와 임상양상

• 영문명: PAX6 Mutations and Clinical Features of Congenital Aniridia
• 발행기관: 대한안과학회
• 저자명: 김종호 황보성 이정호 차순철,Jong Ho Kim M.D., Ph.D., Bo Sung Hwang, M.D., Jung Ho Lee M.D., Soon Cheol Cha M.D., Ph.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume49,number11, 1794~1800쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2008.11.15

영문 초록

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. J Korean Ophthalmol Soc 2008;49(11):1794-1800

키워드

Aniridia, Glaucoma, Mutation, PAX6 gene