title: A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.
abstract: 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.
authors.affiliation: Departments of Pediatrics.
authors.forename: Mi Sun
authors.initials: MS
authors.lastname: Chang
authors.affiliation: Ophthalmology.
authors.forename: Jong Chul
authors.initials: JC
authors.lastname: Han
authors.affiliation: Departments of Pediatrics.
authors.forename: Jieun
authors.initials: J
authors.lastname: Lee
authors.affiliation: Departments of Pediatrics.
authors.forename: Younghee
authors.initials: Y
authors.lastname: Kwun
authors.affiliation: Departments of Pediatrics.
authors.forename: Rimm
authors.initials: R
authors.lastname: Huh
authors.affiliation: Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Ophthalmology.
authors.forename: Changwon
authors.initials: C
authors.lastname: Kee
authors.affiliation: Department of Pediatrics, Hanyang University Guri Hopistal, Hanyang University College of Medicine, Guri, Korea.
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.affiliation: Departments of Pediatrics jindk.jin@samsung.com.
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D000869:Anterior Eye Segment / Q000473:pathology; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005190:Family; D005260:Female; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics*; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics*; D056910:Republic of Korea
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D022821:RNA Splice Sites; D012097:Repressor Proteins
keywords: Aniridia; PAX6; Splice site mutation