Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
OBJECTIVE
To determine the frequency and kinds of mutations in the RP1 gene, and to characterize the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) with a novel 2336 to 2337delCT mutation in the RP1 gene.


METHODS
Case reports and results of DNA analysis.


METHODS
Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by complete ophthalmologic examinations.


RESULTS
A novel 2336 to 2337delCT mutation in the RP1 gene was identified in two patients from a Japanese family with ADRP. In addition, three families with ADRP carried a previously reported nonpathogenic Arg1933X mutation. The ophthalmic findings with a 2336 to 2337delCT mutation were similar to those of typical retinitis pigmentosa with rapid progression after age 40 years.


CONCLUSIONS
The most common Arg677X mutation in the white population was not found in the Japanese population; instead a novel mutation was found.
Kawamura
Miyuki
M
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Wada
Yuko
Y
Noda
Yoshihiro
Y
Itabashi
Toshitaka
T
Ogawa
Soh-Ichiro
S
Sato
Hajime
H
Tanaka
Kenji
K
Ishibashi
Tasturo
T
Tamai
Makoto
M
D000368:Aged; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D005799:Genes, Dominant; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008869:Microtubule-Associated Proteins; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics* / Q000473:pathology
D005136:Eye Proteins; D008869:Microtubule-Associated Proteins; C120042:RP1 protein, human