Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

Nat Genet. 1992 Oct;2(2):139-43. doi: 10.1038/ng1092-139.


A candidate gene for Norrie disease, an X-linked disorder characterized by blindness, deafness and mental disturbances, was recently isolated and found to contain microdeletions in numerous patients. No strong homologies were identified. By studying the number and spacing of cysteine residues, we now detect homologies between the Norrie gene product and a C-terminal domain which is common to a group of proteins including mucins. Three newly-characterized missense mutations, replacing evolutionarily conserved cysteines or creating new cysteine codons, emphasize the functional importance of these sites. These findings and the clinical features of this disorder suggest a possible role for the Norrie gene in neuroectodermal cell-cell interaction.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Blindness / congenital
  • Blindness / genetics*
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Cysteine / genetics
  • DNA / genetics
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Exons
  • Genetic Linkage
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Introns
  • Male
  • Molecular Sequence Data
  • Mucins / genetics*
  • Point Mutation
  • Sequence Homology, Amino Acid
  • X Chromosome


  • Mucins
  • DNA
  • Cysteine