Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

Science. 1994 Jun 10;264(5165):1604-8. doi: 10.1126/science.8202715.

Abstract

In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease.

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Electroretinography
  • Eye Proteins / chemistry
  • Eye Proteins / genetics*
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Intermediate Filament Proteins / chemistry
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins*
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Retinitis Pigmentosa / genetics*
  • Rod Cell Outer Segment / chemistry
  • Tetraspanins

Substances

  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • Peripherins
  • RDS protein, human
  • ROM1 protein, human
  • Tetraspanins