title: C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain.
abstract: A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. In this study we report a five-generation family originating in Galicia, Spain with early onset cataracts and variable corneal abnormalities which include non-ectatic corneal thinning and severe early-onset keratoconus. We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side. This finding represents a third independent occurrence of this mutation in familiar ocular disease thus strengthening the link between miR-184 abnormalities and inherited eye defects.
authors.affiliation: a Cornea Genetic Eye Institute , Beverly Hills , CA , USA .
authors.forename: Yelena
authors.initials: Y
authors.lastname: Bykhovskaya
authors.forename: Ana L
authors.initials: AL
authors.lastname: Caiado Canedo
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Wright
authors.forename: Yaron S
authors.initials: YS
authors.lastname: Rabinowitz
mesh_terms: D000369:Aged, 80 and over; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D063171:Corneal Pachymetry; D003319:Corneal Stroma / Q000473:pathology*; D019781:Corneal Topography; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013030:Spain
chemical_list: C534424:MIRN184 microRNA, human; D035683:MicroRNAs
keywords: Keratoconus; micro RNA; mutation