Isolation and characterization of a candidate gene for Norrie disease

Nat Genet. 1992 Jun;1(3):204-8. doi: 10.1038/ng0692-204.


Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionarily conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blindness / congenital
  • Blindness / genetics*
  • Chromosome Mapping
  • Chromosomes, Fungal
  • DNA / genetics
  • DNA Mutational Analysis
  • Gene Library
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Sequence Deletion
  • X Chromosome*


  • DNA