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Article

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

PloS one - 1 Aug 2007

Orr Andrew, Dubé Marie-Pierre, Marcadier Julien, Jiang Haiyan, Federico Antonio, George Stanley, Seamone Christopher, Andrews David, Dubord Paul, Holland Simon, Provost Sylvie, Mongrain Vanessa, Evans Susan, Higgins Brent, Bowman Sharen, Guernsey Duane, Samuels Mark

Abstract excerpt

Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive sequencing of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17668063
DOI: 10.1371/journal.pone.0000685
PMCID: PMC1925147

Genes

UBIAD1

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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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.PMID 17668063Read ↗

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

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UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.Semantic proximity Read ↗

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.Semantic proximity Read ↗

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A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.Semantic proximity Read ↗

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