A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

摘要: PURPOSE. To determine the molecular defect in a family with autosomal dominant rhegmatogenous retinal detachment (DRRD), and to investigate missplicing as possible phenotypic modifier of mutations COL2A1. METHODS. Clinical examination linkage analysis using markers flanking COL2A1 COL11A1, known loci for Stickler syndrome; mutation screening COL2A1; construction splicing reporter minigenes transfection into cultured cells; RT-PCR specific transcripts. RESULTS. A DRRD showed no systemic clinical signs (skeletal, orofacial, or auditory) usually associated syndrome. Linkage excluded COL11A1 disease locus but could not exclude Mutation identified novel G118R type II collagen. Transfection carrying (G118R, R453X, L467F) cells detected mRNA from mutant constructs. CONCLUSIONS. Mutations outside alternatively spliced exon 2 region can also result an ocular only phenotype. There was evidence that modifies phenotype these mutations, suggesting minimal absent features demonstrated by L467F are biophysical changes imparted on collagen molecule. (Invest Ophthalmol Vis Sci. 2005;46: 663‐668) DOI:10.1167/iovs.04-1017