G106R rhodopsin mutation is also present in Spanish ADRP patients.
A large family affected with autosomal dominant retinitis pigmentosa (ADRP) with a sectorial phenotype showed a previously described (G to A) mutation in the rhodopsin gene resulting in the substitution of a glycine residue by an arginine in codon 106 of rhodopsin. This mutation shows some unusual characteristics, such as initial pathology of the inferior retina, superior visual field with normal disc and retinal vessels, and ERG findings that show a modest reduction in both cone and rod amplitudes with normal implicit times. The Gly 106 Arg mutation has been previously reported in American and British patients. Its presence in a Spanish ADRP family confirms that it and its homogeneous associated phenotype are geographically widespread.
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain.
C
C
Ayuso
C
C
Reig
B
B
Garcia-Sandoval
M J
MJ
Trujillo
G
G
Antiñolo
S
S
Borrego
M
M
Carballo
D000293:Adolescent; D000328:Adult; D000368:Aged; D001120:Arginine; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain; D014794:Visual Fields
D004247:DNA; D012243:Rhodopsin; D001120:Arginine; D005998:Glycine