A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia

• Published in: Annals of clinical and laboratory science Vol. 45; no. 1; pp. 90 - 93
• Main Authors: Chang, Mi Sun, Han, Jong Chul, Lee, Jieun, Kwun, Younghee, Huh, Rimm, Ki, Chang-Seok, Kee, Changwon, Cho, Sung Yoon, Jin, Dong-Kyu
• Format: Journal Article
• Language: English
• Published: United States 2015
• Subjects: Adult; Amino Acid Sequence; Aniridia - genetics; Anterior Eye Segment - pathology; Asian Continental Ancestry Group - genetics; Base Sequence; Child; Child, Preschool; Eye Proteins - chemistry; Eye Proteins - genetics; Family; Female; Homeodomain Proteins - chemistry; Homeodomain Proteins - genetics; Humans; Infant; Infant, Newborn; Male; Molecular Sequence Data; Mutation - genetics; Paired Box Transcription Factors - chemistry; Paired Box Transcription Factors - genetics; PAX6 Transcription Factor; Pedigree; Protein Structure, Tertiary; Repressor Proteins - chemistry; Repressor Proteins - genetics; Republic of Korea; RNA Splice Sites - genetics; Splice site mutation; PAX6; Aniridia
• ISSN: 1550-8080

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.