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Article

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

Gene - 15 Dec 2012

Al-Owain Mohammed, Al-Dosari Mohammed S, Sunker Asma, Shuaib Taghreed, Alkuraya Fowzan S

Abstract excerpt

Brittle cornea syndrome (BCS) is a genetically heterogeneous disorder characterized by extreme corneal fragility and thinning, which may lead to spontaneous or trauma-induced corneal rupture. BCS-1 and BCS-2 are caused by recessive mutations in ZNF469 and PRDM5, respectively. Both genes play a role in the regulatory pathway of corneal development and maintenance. We report a consanguineous family with five...

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Identifiers

PMID: 23010198
DOI: 10.1016/j.gene.2012.09.022

Genes

PRDM5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.PMID 23010198Read ↗

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More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.Semantic proximity Read ↗

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Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.Semantic proximity Read ↗

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.Semantic proximity Read ↗

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

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.Semantic proximity Read ↗

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