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https://hdl.handle.net/2440/71958
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Type: | Journal article |
Title: | Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma |
Author: | Khan, K. Rudkin, A. Parry, D. Burdon, K. McKibbin, M. Logan, C. Abdelhamed, Z. Muecke, J. Fernandez-Fuentes, N. Laurie, K. Shires, M. Fogarty, R. Carr, I. Poulter, J. Morgan, J. Mohamed, M. Jafri, H. Raashid, Y. Meng, N. Piseth, H. et al. |
Citation: | American Journal of Human Genetics, 2011; 89(3):464-473 |
Publisher: | Univ Chicago Press |
Issue Date: | 2011 |
ISSN: | 0002-9297 1537-6605 |
Statement of Responsibility: | Kamron Khan, Adam Rudkin... Robert J. Casson... et al. |
Abstract: | Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an increased risk of glaucoma. Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. These results highlight the diverse ocular phenotypes caused by PXDN mutations, which are likely due to differences in genetic background and environmental factors. Peroxidasin is an extracellular matrix-associated protein with peroxidase catalytic activity, and we confirmed localization of the protein to the cornea and lens epithelial layers. Our findings imply that peroxidasin is essential for normal development of the anterior chamber of the eye, where it may have a structural role in supporting cornea and lens architecture as well as an enzymatic role as an antioxidant enzyme in protecting the lens, trabecular meshwork, and cornea against oxidative damage. |
Keywords: | Cornea Animals Humans Mice Corneal Opacity Cataract Glaucoma Genetic Predisposition to Disease Peroxidase Extracellular Matrix Proteins Microscopy, Fluorescence Pedigree Sequence Analysis, DNA Base Sequence Mutation Models, Molecular Molecular Sequence Data |
Rights: | ©2011 by The American Society of Human Genetics. All rights reserved. |
DOI: | 10.1016/j.ajhg.2011.08.005 |
Published version: | http://dx.doi.org/10.1016/j.ajhg.2011.08.005 |
Appears in Collections: | Aurora harvest 5 Opthalmology & Visual Sciences publications |
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