RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.
OBJECTIVE
Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level.


METHODS
Homozygosity mapping and candidate gene analysis.


RESULTS
The authors have identified four novel mutations, all recessive, in a number of families with a typical RP phenotype.


CONCLUSIONS
The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related RP.
UCL Institute of Ophthalmology, Department of Genetics, London, UK.
May
M
Al-Rashed
Leen
L
Abu Safieh
Hisham
H
Alkuraya
Mohammed A
MA
Aldahmesh
Jawaher
J
Alzahrani
Mohamed
M
Diya
Mais
M
Hashem
Alison J
AJ
Hardcastle
Selwa A F
SA
Al-Hazzaa
Fowzan S
FS
Alkuraya
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
D005136:Eye Proteins; D008869:Microtubule-Associated Proteins; C120042:RP1 protein, human