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W. Hur, J.-W. Mok, S.-H. Chung, C.-K. Joo; A PAX 6 Gene Mutation in Korean Patient With Aniridia. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4124.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate mutations in the paired box protein 6 (PAX6, MIM 607108) gene, which located on 11p13, in a Korean family with congenital aniridia.
Genomic DNA was extracted from blood samples of one family and unrelated patients with aniridia visited the Department of Ophthalmology at the Catholic University Medical Center. To screen genetic mutations in 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 and 13 exons of PAX6 gene were performed using polymerase chain reaction and direct sequencing. Control individuals were selected from the general population without aniridia. The pathogenic impact of these sequence variants was evaluated through the SIFT and PolyPhen algorithms.
In this study, we found two heterozygous nonsense mutations, L106X (TTA>TAA) in exon 6 for paired domain (PD) and R317X (CGA>TGA) in exon 11 for Proline/Serine/Threonine-rich (PST) region, in unrelated aniridia patients, respectively. And IVS4-1delG with G>T substitution in second nucleotide position of codon 4 in exon 5 was identified in all patients of Aniridia family. These mutations were not present in unaffected individuals from control groups.
Our data is the first report of three heterozygous mutations of PAX6 gene in Korean patients with aniridia. Among them, L106X and IVS4-1delG with G>T substitution were novel mutations. Our result provides that these mutations are a genetic susceptibility factor for the development of Korean patients with aniridia, because these mutations resulted in loss of function of the PAX6 protein.
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