title: Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.
abstract: Disorders such as Norrie disease, X-linked familial exudative vitreoretinopathy, retinopathy of prematurity and X-linked primary vitreoretinal dysplasia have very similar clinical manifestations. They exhibit retinal fold, retinal detachment, retinal traction and the formation of retrolental fibrovascular membrane. In order to identify carriers for these disorders and provide precise genetic counseling of the relatives, a molecular genetic analysis will be helpful. This report describes the results of Norrie disease analysis in simplex cases of exudative vitreoretinopathy. the identification of a recurrent mutation in the Norrie disease gene in a simplex case of exudative vitreoretinopathy further strengthens the notion that Norrie disease and exudative vitreoretinopathy are allelic disorders.
authors.affiliation: Eye Research Institute, Oakland University, Rochester, Michigan 48309-4480, USA.
authors.forename: B S
authors.initials: BS
authors.lastname: Shastry
mesh_terms: D001483:Base Sequence; D001766:Blindness / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D003638:Deafness / Q000235:genetics; D004200:Diseases in Twins; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D017354:Point Mutation; D014429:Twins, Dizygotic; D014822:Vitreous Body; D014960:X Chromosome / Q000235:genetics
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D004247:DNA