Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.
A novel rhodopsin missense mutation (M216R) was found in a Danish patient with autosomal dominant retinitis pigmentosa. Clinical examination of the proband disclosed a phenotype of intermediate severity. In view of the predicted amino acid substitution in the 5th transmembrane domain of rhodopsin, the clinical picture of the proband is in keeping with the data from the literature on patients carrying similar mutations.
Haim
M
M
University Eye Clinic, Herlev Hospital, Copenhagen, Denmark.
Grundmann
K
K
Gal
A
A
Rosenberg
T
T
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000032:analysis*; D003718:Denmark; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014792:Visual Acuity
D009692:Nucleic Acid Heteroduplexes; D004247:DNA; D012243:Rhodopsin