UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

ABSTRACT:

Background

Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in progressive corneal opacification and visual loss. We characterized lesions in the UBIAD1 gene in new SCD families and examined protein homology, localization, and structure.

Methodology/principal findings

We characterized five novel mutations in the UBIAD1 gene in ten SCD families, including a first SCD family of Native American ethnicity. Examination of protein homology revealed that SCD altered amino acids which were highly conserved across species. Cell lines were established from patients including keratocytes obtained afte

SUBMITTER: Nickerson ML 

PROVIDER: S-EPMC2874009 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature