title: Molecular characterization of retinitis pigmentosa in Saudi Arabia.
abstract: OBJECTIVE
  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.
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Mohammed A
authors: MA
authors: Aldahmesh
authors: Leen Abu
authors: LA
authors: Safieh
authors: Hisham
authors: H
authors: Alkuraya
authors: Ali
authors: A
authors: Al-Rajhi
authors: Hanan
authors: H
authors: Shamseldin
authors: Mais
authors: M
authors: Hashem
authors: Fatemah
authors: F
authors: Alzahrani
authors: Arif O
authors: AO
authors: Khan
authors: Faisal
authors: F
authors: Alqahtani
authors: Zuhair
authors: Z
authors: Rahbeeni
authors: Mohammed
authors: M
authors: Alowain
authors: Hanif
authors: H
authors: Khalak
authors: Salwa
authors: S
authors: Al-Hazzaa
authors: Brian F
authors: BF
authors: Meyer
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012529:Saudi Arabia