PMID- 10634633
OWN - NLM
STAT- MEDLINE
DCOM- 20000114
LR  - 20201208
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 41
IP  - 1
DP  - 2000 Jan
TI  - A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked
      retinitis pigmentosa.
PG  - 290-3
AB  - PURPOSE: 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.
FAU - Wada, Y
AU  - Wada Y
AD  - Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
      yukow@oph.med.tohoku.ac.jp
FAU - Nakazawa, M
AU  - Nakazawa M
FAU - Abe, T
AU  - Abe T
FAU - Tamai, M
AU  - Tamai M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Eye Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Proteins)
RN  - 0 (RP2 protein, human)
RN  - 94ZLA3W45F (Arginine)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
RN  - GMW67QNF9C (Leucine)
SB  - IM
MH  - Adult
MH  - Arginine/genetics
MH  - DNA Mutational Analysis
MH  - Electroretinography
MH  - *Eye Proteins
MH  - Female
MH  - Fluorescein Angiography
MH  - GTP-Binding Proteins
MH  - *Genetic Linkage
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins
MH  - Japan
MH  - Leucine/genetics
MH  - Male
MH  - Membrane Proteins
MH  - *Point Mutation
MH  - Proteins/*genetics
MH  - Retinitis Pigmentosa/ethnology/*genetics/pathology
MH  - Visual Fields
MH  - *X Chromosome
EDAT- 2000/01/14 00:00
MHDA- 2000/01/14 00:01
CRDT- 2000/01/14 00:00
PHST- 2000/01/14 00:00 [pubmed]
PHST- 2000/01/14 00:01 [medline]
PHST- 2000/01/14 00:00 [entrez]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2000 Jan;41(1):290-3.