Autosomal dominant retinitis pigmentosa. A mutation in codon 181 (Glu-->Lys) of the rhodopsin gene in a Japanese family.
The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type I category of ad RP).
Saga
M
M
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Mashima
Y
Y
Akeo
K
K
Oguchi
Y
Y
Kudoh
J
J
Shimizu
N
N
D000328:Adult; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D007564:Japan; D008239:Lysine / Q000235:genetics; D008969:Molecular Sequence Data; D010786:Photoreceptor Cells / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
D003062:Codon; D018698:Glutamic Acid; D012243:Rhodopsin; D008239:Lysine