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PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia

Citation

Souzeau, E and Rudkin, AK and Dubowsky, A and Casson, RJ and Muecke, JS and Mancel, E and Whiting, M and Mills, RAD and Burdon, KP and Craig, JE, PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia, Molecular Vision, 24 pp. 261-273. ISSN 1090-0535 (2018) [Refereed Article]


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Copyright Statement

2018 Molecular Vision. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY-NC-ND 3.0 (see http://creativecommons.org/licenses/by-nc-nd/3.0/ for license terms)

Official URL: http://www.molvis.org/molvis/v24/261/

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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:125844
Year Published:2018
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-05-09
Last Modified:2018-06-04
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