+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



Plos one 2(8): E685



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 positional candidate genes has thus far failed to reveal causal mutations. We have ascertained a large multigenerational family in Nova Scotia affected with SCCD in which we have confirmed linkage to the same general area of chromosome 1. Intensive fine mapping in our family revealed a 1.3 Mbp candidate interval overlapping that previously reported. Sequencing of genes in our interval led to the identification of five putative causal mutations in gene UBIAD1, in our family as well as in four other small families of various geographic origins. UBIAD1 encodes a potential prenyltransferase, and is reported to interact physically with apolipoprotein E. UBIAD1 may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 054515632

Download citation: RISBibTeXText

PMID: 17668063

DOI: 10.1371/journal.pone.0000685


Related references

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Investigative Ophthalmology and Visual Science 48(11): 5007-5012, 2007

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Molecular Vision 13: 1777-1782, 2007

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. Plos one 5(5): E10760, 2010

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. Bmc Ophthalmology 18(1): 250, 2018

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Molecular Vision 15: 1463-1469, 2009

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. American Journal of Medical Genetics. Part a 146a(3): 271-283, 2008

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. Molecular Vision 17: 2685-2692, 2011

Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology 2016: 1968493, 2016

Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy. Zhonghua Yi Xue Za Zhi 92(45): 3215-3217, 2012

Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. Cornea 29(7): 777-780, 2010

Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. British Journal of Ophthalmology 93(7): 926-931, 2009

Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. Cornea 37(5): 554-559, 2018

Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. Elife 8:, 2019

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. Graefe's Archive for Clinical and Experimental Ophthalmology 256(11): 2127-2134, 2018

Linkage analysis in granular corneal dystrophy groenouw i schnyder's crystalline corneal dystrophy and reis buecklers' corneal dystrophy. Graefe's Archive for Clinical and Experimental Ophthalmology 227(6): 538-540, 1989