Molecular characterization of retinitis pigmentosa in Saudi Arabia

Mol Vis. 2009 Nov 24;15:2464-9.

Abstract

Purpose: To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample.

Methods: Fifty-two patients with RP were recruited and their homozygosity mapping, with or without linkage analysis, was used to suggest the causative genes followed by bidirectional sequencing.

Results: Mutations were identified in 94% of our study cohort, including seven that were novel.

Conclusions: Homozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity. BBS3 mutations can rarely present as nonsyndromic RP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Asian Continental Ancestry Group / genetics*
  • Base Sequence
  • Chromosome Mapping
  • Conserved Sequence
  • DNA Mutational Analysis
  • Female
  • Genetic Linkage
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Saudi Arabia