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Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma


Khan, K and Rudkin, A and Parry, DA and Burdon, KP and McKibbin, M and Logan, CV and Abdelhamed, ZIA and Muecke, JS and Fernandez-Fuentes, N and Laurie, KJ and Shires, M and Fogarty, R and Carr, IM and Poulter, JA and Morgan, JE and Mohamed, MD and Jafri, H and Raashid, Y and Meng, N and Piseth, H and Toomes, C and Casson, RJ and Taylor, GR and Hammerton, M and Sheridan, E and Johnson, CA and Inglehearn, CF and Craig, JE and Ali, M, Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 89, (3) pp. 464-473. ISSN 0002-9297 (2011) [Refereed Article]

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Copyright 2011 The American Society of Human Genetics

DOI: doi:10.1016/j.ajhg.2011.08.005


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:90662
Year Published:2011
Web of Science® Times Cited:51
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-16
Last Modified:2014-05-30

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