Open Access Repository

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

Downloads

Downloads per month over past year

Souzeau, E, Rudkin, AK, Dubowsky, A, Casson, RJ, Muecke, JS, Mancel, E, Whiting, M, Mills, RAD, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2018 , 'PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia' , Molecular Vision, vol. 24 , pp. 261-273 .

[img]
Preview
PDF
125844 Journal ...pdf | Download (1MB)

| Preview

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 Type: Article
Authors/Creators: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
Journal or Publication Title: Molecular Vision
Publisher: Molecular Vision
ISSN: 1090-0535
Copyright Information:

© 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)

Related URLs:
Item Statistics: View statistics for this item

Actions (login required)

Item Control Page Item Control Page
TOP