Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370-4. doi: 10.1073/pnas.88.20.9370.


We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutations is a single-base substitution corresponding to a single amino acid substitution. Based on current models for the structure of rhodopsin, 3 of the 17 mutant amino acids are normally located on the cytoplasmic side of the protein, 6 in transmembrane domains, and 8 on the intradiscal side. Forty-three of the 150 patients (29%) carry 1 of these mutations, and no patient has more than 1 mutation. In every family with a mutation so far analyzed, the mutation cosegregates with the disease. We found one instance of a mutation in an affected patient that was absent in both unaffected parents (i.e., a new germ-line mutation), indicating that some "isolate" cases of retinitis pigmentosa carry a mutation of the rhodopsin 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
  • Cell Membrane / metabolism
  • Codon / genetics
  • Exons
  • Eye Proteins / genetics
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Models, Structural
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Oligonucleotides, Antisense
  • Pedigree
  • Protein Conformation
  • Restriction Mapping
  • Retinal Pigments / genetics
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Rod Opsins


  • Codon
  • Eye Proteins
  • Oligodeoxyribonucleotides
  • Oligonucleotides, Antisense
  • Retinal Pigments
  • Rod Opsins
  • Rhodopsin