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Article

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Human molecular genetics - 1 Dec 2015

Porter Louise F, Galli Giorgio G, Williamson Sally, Selley Julian, Knight David, Elcioglu Nursel, Aydin Ali, Elcioglu Mustafa, Venselaar Hanka, Lund Anders H, Bonshek Richard, Black Graeme C, Manson Forbes D

Abstract excerpt

Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation. Here we investigate clinical samples, including skin fibroblasts and retinal tissue from BCS2 patients, to elucidate the epigenetic role of...

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Source

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Identifiers

PMID: 26395458
DOI: 10.1093/hmg/ddv345
PMCID: PMC4634368

Genes

PRDM5
CDH5
CHD4
NTN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.PMID 26395458Read ↗

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