title: A nonsensePAX6mutation in a family with congenital aniridia.
abstract: Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in thePAX6gene. Thus, our findings reiterate the importance ofPAX6mutations in congenital aniridia.
authors.affiliation: Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea.
authors.forename: Kyoung Hee
authors.initials: KH
authors.lastname: Han
authors.affiliation: Department of Ophthalmology, Jeju National University School of Medicine, Jeju, Korea.
authors.forename: Hye Jin
authors.initials: HJ
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Il-Soo
authors.initials: IS
authors.lastname: Ha
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
keywords: Congenital aniridia; Gene; PAX6 protein; WAGR syndrome; Wilms tumor