title: A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
abstract: Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.
authors.affiliation: Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: E M
authors.initials: EM
authors.lastname: Battinelli
authors.forename: A
authors.initials: A
authors.lastname: Fielder
authors.forename: S
authors.initials: S
authors.lastname: Bundey
authors.forename: K
authors.initials: K
authors.lastname: Sims
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D018076:DNA, Complementary; D005128:Eye Diseases / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012160:Retina / Q000002:abnormalities; D012164:Retinal Diseases / Q000235:genetics*; D014822:Vitreous Body / Q000002:abnormalities; D014960:X Chromosome
chemical_list: D018076:DNA, Complementary; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins