Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa.
By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop signal and resulting in a rhodopsin molecule that is, respectively, 1 and 10 amino acids longer. The clinical phenotype of the patients is described and is compared with that associated with other mutations in the same region of the gene.
Horn
M
M
Institut für Humangenetik, Medizinischen Universität, Lübeck, Federal Republic of Germany.
Humphries
P
P
Kunisch
M
M
Marchese
C
C
Apfelstedt-Sylla
E
E
Fugi
L
L
Zrenner
E
E
Kenna
P
P
Gal
A
A
Farrar
J
J
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA; D005091:Exons; D005260:Female; D017353:Gene Deletion; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D004247:DNA; D012243:Rhodopsin