Cookies

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this repository, you give consent for essential cookies to be used. You can read more about our Privacy and Cookie Policy.


Durham Research Online
You are in:

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Berry, Vanita and Ionides, Alex and Pontikos, Nikolas and Moore, Anthony T. and Quinlan, Roy A. and Michaelides, Michel (2022) 'Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.', Eye, 36 (8). pp. 1694-1701.

Abstract

Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies. Methods: Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autosomal dominant congenital cataract. Bioinformatics analysis confirmed these disease-causing mutations as rare or novel variants, with a moderate to damaging pathogenicity score, with testing for segregation within the families using direct Sanger sequencing. Results: Family A had a missense variant (c.184 G>A; p.V62M) in PAX6 and affected individuals presented with nuclear cataract. Family B had a frameshift variant (c.470–477dup; p.A160R*) in PITX3 that was also associated with nuclear cataract. A recurrent missense variant in HSF4 (c.341 T>C; p.L114P) was associated with congenital cataract in a single isolated case. Conclusions: We have therefore identified novel variants in PAX6 and PITX3 that cause autosomal dominant congenital cataract.

Item Type:Article
Full text:(VoR) Version of Record
Available under License - Creative Commons Attribution 4.0.
Download PDF
(1190Kb)
Status:Peer-reviewed
Publisher Web site:https://doi.org/10.1038/s41433-021-01711-x
Publisher statement:Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Date accepted:16 July 2021
Date deposited:25 October 2021
Date of first online publication:03 August 2021
Date first made open access:25 October 2021

Save or Share this output

Export:
Export
Look up in GoogleScholar