title: Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.
abstract: Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now.
authors.affiliation: Department of Ophthalmology, Chonbuk National University Medical School and Hospital, Chonbuk National University, Jeonju, Jeonbuk, South Korea.
authors.forename: Woo Jin
authors.initials: WJ
authors.lastname: Kim
authors.affiliation: Department of Ophthalmology, Chonbuk National University Medical School and Hospital, Chonbuk National University, Jeonju, Jeonbuk, South Korea.
authors.forename: Jong Ha
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Ophthalmology, Chonbuk National University Medical School and Hospital, Chonbuk National University, Jeonju, Jeonbuk, South Korea.
authors.forename: Nam Chun
authors.initials: NC
authors.lastname: Cho
mesh_terms: D000328:Adult; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004483:Ectropion / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology*; D005654:Fundus Oculi; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D009154:Mutation; D000071841:PAX6 Transcription Factor / Q000235:genetics*
chemical_list: D000071841:PAX6 Transcription Factor; D004247:DNA