Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
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...
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Online Access: | https://doi.org/10.1371/journal.pone.0000685 |
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doaj-6b852af3da204c748a095e60fc6530832021-03-04T12:44:36ZengPublic Library of Science (PLoS)PLoS ONE1932-62032007-08-0128e68510.1371/journal.pone.0000685Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.Andrew OrrMarie-Pierre DubéJulien MarcadierHaiyan JiangAntonio FedericoStanley GeorgeChristopher SeamoneDavid AndrewsPaul DubordSimon HollandSylvie ProvostVanessa MongrainSusan EvansBrent HigginsSharen BowmanDuane GuernseyMark SamuelsSchnyder 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.https://doi.org/10.1371/journal.pone.0000685 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Andrew Orr Marie-Pierre Dubé Julien Marcadier Haiyan Jiang Antonio Federico Stanley George Christopher Seamone David Andrews Paul Dubord Simon Holland Sylvie Provost Vanessa Mongrain Susan Evans Brent Higgins Sharen Bowman Duane Guernsey Mark Samuels |
spellingShingle |
Andrew Orr Marie-Pierre Dubé Julien Marcadier Haiyan Jiang Antonio Federico Stanley George Christopher Seamone David Andrews Paul Dubord Simon Holland Sylvie Provost Vanessa Mongrain Susan Evans Brent Higgins Sharen Bowman Duane Guernsey Mark Samuels Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS ONE |
author_facet |
Andrew Orr Marie-Pierre Dubé Julien Marcadier Haiyan Jiang Antonio Federico Stanley George Christopher Seamone David Andrews Paul Dubord Simon Holland Sylvie Provost Vanessa Mongrain Susan Evans Brent Higgins Sharen Bowman Duane Guernsey Mark Samuels |
author_sort |
Andrew Orr |
title |
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. |
title_short |
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. |
title_full |
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. |
title_fullStr |
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. |
title_full_unstemmed |
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. |
title_sort |
mutations in the ubiad1 gene, encoding a potential prenyltransferase, are causal for schnyder crystalline corneal dystrophy. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2007-08-01 |
description |
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. |
url |
https://doi.org/10.1371/journal.pone.0000685 |
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