Putative association of a mutant ROM1 allele with retinitis pigmentosa

Hum Genet. 1997 Jun;99(6):827-30. doi: 10.1007/s004390050456.

Abstract

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them only accounts for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been putatively associated with several forms of RP. Here we describe a double-mutant allele of this gene, P60T and T108M, present in two affected sibs and also in two healthy members of a Spanish RP family. The same double-mutant allele was previously considered to be responsible for autosomal dominant RP in one family. We now report data that question the potential pathogenicity of these two ROM1 mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles*
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Retinitis Pigmentosa / genetics*
  • Rod Cell Outer Segment / chemistry*
  • Tetraspanins

Substances

  • Eye Proteins
  • Membrane Proteins
  • ROM1 protein, human
  • Tetraspanins