title: X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
abstract: We report the cosegregation of an arginine to leucine substitution at position 121 of the Norrie disease protein in a large kindred where exudative vitreoretinopathy segregates as an X-linked recessive trait. The clinical phenotype and rate of disease progression were extremely variable, with progression to total retinal detachment from less than age 2 years to more than 21 years. To date, all mutations in X-linked vitreoretinopathy have been missense mutations, presumably not affecting the three-dimensional structure of the NDP gene product, and clustered around residues 121-126 of the Norrie protein. This contrasts with the diversity of mutations seen in the more severe, allelic Norrie disease.
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh PA 15261, USA.
authors.forename: K
authors.initials: K
authors.lastname: Johnson
authors.forename: H A
authors.initials: HA
authors.lastname: Mintz-Hittner
authors.forename: Y P
authors.initials: YP
authors.lastname: Conley
authors.forename: R E
authors.initials: RE
authors.lastname: Ferrell
mesh_terms: D001120:Arginine; D001483:Base Sequence; D004247:DNA; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007930:Leucine; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D012163:Retinal Detachment / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D014792:Visual Acuity / Q000235:genetics; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; D004247:DNA; D001120:Arginine; D007930:Leucine