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

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dc.contributor.authorKhan, K.
dc.contributor.authorRudkin, A.
dc.contributor.authorParry, D.
dc.contributor.authorBurdon, K.
dc.contributor.authorMcKibbin, M.
dc.contributor.authorLogan, C.
dc.contributor.authorAbdelhamed, Z.
dc.contributor.authorMuecke, J.
dc.contributor.authorFernandez-Fuentes, N.
dc.contributor.authorLaurie, K.
dc.contributor.authorShires, M.
dc.contributor.authorFogarty, R.
dc.contributor.authorCarr, I.
dc.contributor.authorPoulter, J.
dc.contributor.authorMorgan, J.
dc.contributor.authorMohamed, M.
dc.contributor.authorJafri, H.
dc.contributor.authorRaashid, Y.
dc.contributor.authorMeng, N.
dc.contributor.authorPiseth, H.
dc.contributor.authoret al.
dc.date.issued2011
dc.description.abstractAnterior 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.
dc.description.statementofresponsibilityKamron Khan, Adam Rudkin... Robert J. Casson... et al.
dc.identifier.citationAmerican Journal of Human Genetics, 2011; 89(3):464-473
dc.identifier.doi10.1016/j.ajhg.2011.08.005
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.orcidRudkin, A. [0000-0003-2508-8574]
dc.identifier.orcidCasson, R. [0000-0003-2822-4076]
dc.identifier.urihttp://hdl.handle.net/2440/71958
dc.language.isoen
dc.publisherUniv Chicago Press
dc.rights©2011 by The American Society of Human Genetics. All rights reserved.
dc.source.urihttps://doi.org/10.1016/j.ajhg.2011.08.005
dc.subjectCornea
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectCorneal Opacity
dc.subjectCataract
dc.subjectGlaucoma
dc.subjectGenetic Predisposition to Disease
dc.subjectPeroxidase
dc.subjectExtracellular Matrix Proteins
dc.subjectMicroscopy, Fluorescence
dc.subjectPedigree
dc.subjectSequence Analysis, DNA
dc.subjectBase Sequence
dc.subjectMutation
dc.subjectModels, Molecular
dc.subjectMolecular Sequence Data
dc.subjectPeroxidasin
dc.titleHomozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
dc.typeJournal article
pubs.publication-statusPublished

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