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A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
Author(s) -
Boutboul Sandrine,
Black Graeme C.M.,
Moore John E.,
Sinton Janet,
Menasche Maurice,
Munier Francis L.,
Laroche Laurent,
Abitbol Marc,
Schorderet Daniel F.
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20331
Subject(s) - biology , corneal dystrophy , basement membrane , dystrophy , genetics , epithelium , mutation , microbiology and biotechnology , cornea , gene , neuroscience
Abstract Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map‐dot‐fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inheritance have been described. We report the analysis of two families with an autosomal dominant pattern of inheritance as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies. This is the first report of a molecular mutation in individuals with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. Based on our screening, up to 10% of EBMD patients could have a mutation in this gene. Hum Mutat 27(6), 553–557, 2006. © 2006 Wiley‐Liss, Inc.