Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/111884
Type: | Journal article |
Title: | PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia |
Author: | Souzeau, E. Rudkin, A. Dubowsky, A. Casson, R. Muecke, J. Mancel, E. Whiting, M. Mills, R. Burdon, K. Craig, J. |
Citation: | Molecular Vision, 2018; 24:261-273 |
Publisher: | Molecular Vision |
Issue Date: | 2018 |
ISSN: | 1090-0535 1090-0535 |
Statement of Responsibility: | Emmanuelle Souzeau, Adam K. Rudkin, Andrew Dubowsky, Robert J. Casson, James S. Muecke, Erica Mancel, Mark Whiting, Richard A.D. Mills, Kathryn P. Burdon and Jamie E. Craig |
Abstract: | Purpose: Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia. Methods: Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included. The PAX6 gene was investigated for sequence variants and analyzed for deletions with multiplex ligation-dependent probe amplification. Results: We identified 11 sequence variants and six chromosomal deletions, including one in mosaic. Four deleterious sequence variants were novel: p.(Pro81HisfsTer12), p.(Gln274Ter), p.(Ile29Thr), and p.(Met1?). Ocular complications were associated with a progressive loss of visual function as shown by a visual acuity ≤ 1.00 logMAR reported in 65% of eyes. The prevalence of keratopathy was statistically significantly higher in the Australasian cohort (78.6%) compared with the Southeast Asian cohort (9.1%, p=0.002). Variants resulting in protein truncating codons displayed limited genotype–phenotype correlations compared with other variants. Conclusions: PAX6 variants and deletions were identified in 94% of patients with aniridia from Australasia and Southeast Asia. This study is the first report of aniridia and variations in PAX6 in individuals from Cambodia, Sri Lanka, Bhutan, and New Caledonia, and the largest cohort from Australia. |
Keywords: | Severe visual impairment; congenital aniridia; wagr syndrome; high myopia; mutational analysis; pediatric glaucoma; corneal thickness; gene; children; eye |
Rights: | © 2018 Molecular Vision |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1023911 http://purl.org/au-research/grants/nhmrc/1065433 http://purl.org/au-research/grants/nhmrc/1059954 |
Published version: | http://www.molvis.org/molvis/v24/261/ |
Appears in Collections: | Aurora harvest 3 Opthalmology & Visual Sciences publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.