A nonsense PAX6 mutation in a family with congenital aniridia.
10.3345/kjp.2016.59.11.S1
- Author:
Kyoung Hee HAN
1
;
Hye Jin LEE
;
Il Soo HA
;
Hee Gyung KANG
;
Hae Il CHEONG
Author Information
1. Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea.
- Publication Type:Case Report
- Keywords:
Congenital aniridia;
WAGR syndrome;
Gene;
Wilms tumor;
PAX6 protein
- MeSH:
Aniridia*;
Codon, Nonsense;
Family Characteristics;
Genes, Essential;
Humans;
Iris;
WAGR Syndrome;
Wilms Tumor
- From:Korean Journal of Pediatrics
2016;59(Suppl 1):S1-S4
- CountryRepublic of Korea
- Language:English
-
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.
