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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
Statement of
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
RMID: 0030085016
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Appears in Collections:Opthalmology & Visual Sciences publications

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