Korean J Pediatr.
2016 Nov;59(Suppl 1):S1-S4. 10.3345/kjp.2016.59.11.S1.
A nonsense PAX6 mutation in a family with congenital aniridia
- Affiliations
-
- 1Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea.
- 2Department of Ophthalmology, Jeju National University School of Medicine, Jeju, Korea.
- 3Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@snu.ac.kr
- 4Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
- 5Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
- KMID: 2362243
- DOI: http://doi.org/10.3345/kjp.2016.59.11.S1
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 the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.
