@article{4d9ce66427ea4b5582295aa393b301f3,
title = "Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma",
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.",
author = "Kamron Khan and Adam Rudkin and Parry, {David A.} and Burdon, {Kathryn P.} and Martin McKibbin and Logan, {Clare V.} and Abdelhamed, {Zakia I.A.} and Muecke, {James S.} and Narcis Fernandez-Fuentes and Laurie, {Kate J.} and Mike Shires and Rhys Fogarty and Carr, {Ian M.} and Poulter, {James A.} and Morgan, {Joanne E.} and Mohamed, {Moin D.} and Hussain Jafri and Yasmin Raashid and Ngy Meng and Horm Piseth and Carmel Toomes and Casson, {Robert J.} and Taylor, {Graham R.} and Michael Hammerton and Eamonn Sheridan and Johnson, {Colin A.} and Inglehearn, {Chris F.} and Craig, {Jamie E.} and Manir Ali",
note = "Funding Information: We wish to thank the families for participating in this study and the Wellcome Trust (grant 090224), The Sir Jules Thorn Charitable Trust (grant 09/JTA), Yorkshire Eye Research (grant 022), The Ophthalmic Research Institute of Australia, and The Eye Foundation and Sight for All for providing financial support. K.P.B. and J.E.C. are research fellows of the National Health and Medical Research Council of Australia. Z.I.A.A. is funded by a scholarship from the Egyptian Government. We would also like to thank Graeme Black (School of Medicine, University of Manchester, Manchester, UK), Veronica van Heyningen (Human Genetics Unit, Western General Hospital, Edinburgh, UK), Colin E. Willoughby (Centre for Vision Science, Queen's University, Belfast, Northern Ireland), Ordan J. Lehmann (Department of Ophthalmology, University of Alberta, Edmonton, Canada), and Juan Carlos Zenteno (Instituto de Oftalmologia, “Conde de Valenciana,” Mexico City, Mexico) for sending DNA samples from patients with anterior segment dysgenesis for mutation screening. ",
year = "2011",
month = sep,
day = "9",
doi = "10.1016/j.ajhg.2011.08.005",
language = "English",
volume = "89",
pages = "464--473",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "3",
}