title: Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
abstract: Meesmann epithelial corneal dystrophy (MECD) is a dominantly inherited disorder, characterized by fragility of the anterior corneal epithelium and formation of intraepithelial microcysts. It has been described in a number of different ancestral groups. To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two exons of the keratin-12 gene (KRT12). Each mutation leads to a predicted amino acid change in the respective keratin-3 or keratin-12 proteins that combine to form the corneal-specific heterodimeric intermediate filament protein. This case report describes a four-generation Chinese kindred with typical autosomal-dominant MECD. Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals (including two spouses) did not detect any mutations or nucleotide sequence variants. This kindred demonstrates that single mis-sense mutations may be sufficient but are not required in all individuals with the MECD phenotype. It provides a unique opportunity to investigate further genomic and functional heterogeneity in MECD.
authors.affiliation: Clinical Research Centre, People's Hospital of Zhengzhou, Zhengzhou, Henan, China. caoweiyu@hotmail.com
authors.forename: Wei
authors.initials: W
authors.lastname: Cao
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.forename: QianYun
authors.initials: Q
authors.lastname: Hao
authors.forename: ShuLin
authors.initials: S
authors.lastname: Wang
authors.forename: LiHua
authors.initials: L
authors.lastname: Wu
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.forename: MingYan
authors.initials: M
authors.lastname: Li
authors.forename: Fred G
authors.initials: FG
authors.lastname: Biddle
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D053559:Corneal Dystrophy, Juvenile Epithelial of Meesmann / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005190:Family; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D053551:Keratin-12 / Q000235:genetics*; D053558:Keratin-3 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: C507494:KRT12 protein, human; C479360:KRT3 protein, human; D053551:Keratin-12; D053558:Keratin-3
keywords: KRT12; KRT3; Meesmann epithelial corneal dystrophy; autosomal dominant