Molecular characterization of retinitis pigmentosa in Saudi Arabia.
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.
Aldahmesh
Mohammed A
MA
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Safieh
Leen Abu
LA
Alkuraya
Hisham
H
Al-Rajhi
Ali
A
Shamseldin
Hanan
H
Hashem
Mais
M
Alzahrani
Fatemah
F
Khan
Arif O
AO
Alqahtani
Faisal
F
Rahbeeni
Zuhair
Z
Alowain
Mohammed
M
Khalak
Hanif
H
Al-Hazzaa
Salwa
S
Meyer
Brian F
BF
Alkuraya
Fowzan S
FS
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