A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy
作者： Z-Y. Chen , E.M. Battinelli , A. Fielder , S. Bundey , K. Sims
DOI: 10.1038/NG1093-180
关键词:
摘要: 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 biochemical defect(s) underlying symptoms are unknown. Molecular analysis Norrie gene locus (NDP) in four generation FEVR family (shown previously to exhibit linkage X–chromosome markers DXS228 MAOA (Xp11.4–p11.3)) reveals missense mutation highly conserved region NDP gene, which caused neutral amino acid substitution (Leu124Phe), was detected all affected males, not unaffected members, nor normal controls. The observations suggest that phenotypes both XLFEVR disease can result from mutations same gene.
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