A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
OBJECTIVE
To identify the clinical findings in a Japanese family with X-linked retinitis pigmentosa associated with mutation in codon 253 (Leu253Arg) in the RP2 gene.


METHODS
Case reports included clinical features and results of fluorescein angiography, electroretinogram, kinetic visual field testing, and DNA analysis. Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined.


RESULTS
A novel Leu253Arg mutation of the RP2 gene was found to cosegregate with retinal degeneration in two affected males and two carriers in female heterozygote in a Japanese family. The ophthalmic findings in hemizygote showed severe retinal degeneration. In the obligate carrier, mild chorioretinal degeneration was observed in both eyes but a tapetal-like reflex of the fundus was not apparent.


CONCLUSIONS
The mutation at codon 253 of the RP2 gene is the first mutation reported in a Japanese family. It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients.
Wada
Y
Y
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. yukow@oph.med.tohoku.ac.jp
Nakazawa
M
M
Abe
T
T
Tamai
M
M
D000328:Adult; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins; D005260:Female; D005451:Fluorescein Angiography; D019204:GTP-Binding Proteins; D008040:Genetic Linkage; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D007930:Leucine / Q000235:genetics; D008297:Male; D008565:Membrane Proteins; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D014794:Visual Fields; D014960:X Chromosome
D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins; C072178:RP2 protein, human; D001120:Arginine; D019204:GTP-Binding Proteins; D007930:Leucine