Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

Hum Genet. 1992 Nov;90(3):255-7. doi: 10.1007/BF00220073.

Abstract

By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop signal and resulting in a rhodopsin molecule that is, respectively, 1 and 10 amino acids longer. The clinical phenotype of the patients is described and is compared with that associated with other mutations in the same region of the gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Child, Preschool
  • DNA
  • Exons*
  • Female
  • Gene Deletion*
  • Genes, Dominant*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Open Reading Frames
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*

Substances

  • DNA
  • Rhodopsin

Associated data

  • GENBANK/S55843
  • GENBANK/S78409
  • GENBANK/S78411
  • GENBANK/S78413
  • GENBANK/S78753
  • GENBANK/S83243
  • GENBANK/S89848
  • GENBANK/S89851
  • GENBANK/S89853
  • GENBANK/S89910