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Article

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Human molecular genetics - 15 Oct 2014

Lechner Judith, Porter Louise F, Rice Aine, Vitart Veronique, Armstrong David J, Schorderet Daniel F, Munier Francis L, Wright Alan F, Inglehearn Chris F, Black Graeme C, Simpson David A, Manson Forbes, Willoughby Colin E

Abstract excerpt

Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of ZNF469 strongly associated with corneal thickness. Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome...

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Source

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Identifiers

PMID: 24895405
DOI: 10.1093/hmg/ddu253
PMCID: PMC4168824

Genes

PRDM5

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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Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.PMID 24895405Read ↗

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