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

doi:10.1016/j.ajhg.2011.08.005

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Article

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

American journal of human genetics - 9 Sept 2011

Khan Kamron, Rudkin Adam, Parry David A, Burdon Kathryn P, McKibbin Martin, Logan Clare V, Abdelhamed Zakia I A, Muecke James S, Fernandez-Fuentes Narcis, Laurie Kate J, Shires Mike, Fogarty Rhys, Carr Ian M, Poulter James A, Morgan Joanne E, Mohamed Moin D, Jafri Hussain, Raashid Yasmin, Meng Ngy, Piseth Horm, Toomes Carmel, Casson Robert J, Taylor Graham R, Hammerton Michael, Sheridan Eamonn, Johnson Colin A, Inglehearn Chris F, Craig Jamie E, Ali Manir

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21907015
DOI: 10.1016/j.ajhg.2011.08.005
PMCID: PMC3169830

Genes

PXDN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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