Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

doi:10.1016/j.ajhg.2011.05.007

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Article

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

American journal of human genetics - 10 Jun 2011

Burkitt Wright Emma M M, Spencer Helen L, Daly Sarah B, Manson Forbes D C, Zeef Leo A H, Urquhart Jill, Zoppi Nicoletta, Bonshek Richard, Tosounidis Ioannis, Mohan Meyyammai, Madden Colm, Dodds Annabel, Chandler Kate E, Banka Siddharth, Au Leon, Clayton-Smith Jill, Khan Naz, Biesecker Leslie G, Wilson Meredith, Rohrbach Marianne, Colombi Marina, Giunta Cecilia, Black Graeme C M

Abstract excerpt

Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized connective tissue disorder. Enucleation is frequently the only management option for this condition, resulting in blindness and psychosocial distress. Even when the cornea remains grossly intact, visual function could...

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Identifiers

PMID: 21664999
DOI: 10.1016/j.ajhg.2011.05.007
PMCID: PMC3113239

Genes

PRDM5

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

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