Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
Autosomal dominant retinitis pigmentosa (adRP) may be caused by point mutations in the rhodopsin gene in up to 20% of Spanish families. Most of the rhodopsin mutations causing adRP have been reported in the heterozygous state. We describe a patient with adRP who is homozygous for a missense mutation at codon 188 in the second intradiscal domain of rhodopsin. All her sons are heterozygous for the mutation and show an RP phenotype suggesting complete penetrance for this mutation. The homozygous carrier of the mutation Gly-188-Arg in the rhodopsin gene showed a later subjective onset of symptoms than the heterozygotes, suggesting that the photoreceptor degeneration induced by the mutation is not dramatically influenced by mutant allele dosage.
Servei Laboratori Hospital de Terrassa, Terrassa, Spain.
C M
CM
Reig
J M
JM
Trujillo
M M
MM
Martinez-Gimeno
B M
BM
Garcia-Sandoval
T M
TM
Calvo
C
C
Ayuso
M
M
Carballo
D000328:Adult; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004585:Electrooculography; D004591:Electrophoresis, Polyacrylamide Gel; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012160:Retina / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
D012243:Rhodopsin