A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia

作者：Chang Mi Sun; Han Jong Chul; Lee Jieun; Kwun Younghee; Huh Rimm; Ki Chang Seok; Kee Changwon; Cho Sung Yoon; Jin Dong Kyu^*

来源：Annals of Clinical and Laboratory Science, 2015, 45(1): 90-93.

• Aniridia
• PAX6
• Splice site mutation

Aniridia is a rare congenital ocular disorder of complete or partial iris hypoplasia. Frequently associated ocular changes include corneal abnormalities, cataract, glaucoma, and foveal hypoplasia. In most cases, aniridia is caused by decreased dosage of the paired box 6 (PAX6) gene, which is located in chromosome 11p13. We report the case of a Korean family with isolated aniridia inherited in an autosomal dominant manner. The proband was a one-month-old boy. He presented with bilateral complete aniridia and congenital glaucoma. His four-year-old sister had bilateral complete aniridia, glaucoma, and a corneal ulcer. His father had bilateral microcornea and cataract without aniridia. Using PAX6 sequencing analysis, we identified a deletion at the splice donor site of intron 8 in the proband (c. 357 + 1delG). To our knowledge, this variant has not been previously described.

• 出版日期2015