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

dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorRudkin, Adam K
dc.contributor.authorDubowsky, Andrew
dc.contributor.authorCasson, Robert J
dc.contributor.authorMuecke, James S
dc.contributor.authorMancel, Erica
dc.contributor.authorWhiting, Mark
dc.contributor.authorMills, Richard Arthur
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorCraig, Jamie E
dc.date.accessioned2018-04-10T02:10:43Z
dc.date.available2018-04-10T02:10:43Z
dc.date.issued2018-03-28
dc.descriptionCreative 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)en_US
dc.description.abstractPurpose 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.en_US
dc.identifier.citationSouzeau, E., Rudkin, A. K., Dubowsky, A., Casson, R. J., Muecke, J. S., Mancel, E., ... & Craig, J. E. (2018). PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia. Molecular Vision, 24, 261.en_US
dc.identifier.issn1090-0535
dc.identifier.urihttp://hdl.handle.net/2328/37895
dc.language.isoenen_US
dc.oaire.license.condition.licenseCC-BY-NC-ND
dc.publisherMolecular Visionen_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/1023911en_US
dc.relationhttp://purl.org/au-research/grants/nhmrc/1065433en_US
dc.relation.grantnumberNHMRC/1023911en_US
dc.relation.grantnumberNHMRC/1065433en_US
dc.rightsThe authors retain copyright and grant Molecular Vision an irrevocable, royalty-free, perpetual license to publish and distribute the article, in all formats now known or later developed, and to identify Molecular Vision as the original publisheren_US
dc.rights.holderThe authorsen_US
dc.subjectAniridiaen_US
dc.subjectPAX6 geneen_US
dc.subjectmultiplex ligation-dependent probe amplificationen_US
dc.titlePAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asiaen_US
dc.typeArticleen
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