Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation was the transition T-->C in codon 186, which has been reported once before in an American patient (Dryja et al., Proc Natl Acad Sci USA 1991;88:9370-9374). This change replaces a serine by a proline in the second intradiscal loop of the protein, generating a molecule that is probably folding- and transport-defective.
Trujillo
M J
MJ
Department of Genetics, Universidad Autonoma, Fundacion Jimenez Diaz, Madrid, Spain.
Garcia-Sandoval
B
B
Lorda-Sanchez
I
I
Gimenez
A
A
Sanz
R
R
Rodriguez de Alba M
Gonzalez-Gonzalez
M C
MC
Ibañez
A
A
Ramos
C
C
Ayuso
C
C
D000328:Adult; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011392:Proline; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D012694:Serine; D013030:Spain; D014794:Visual Fields
D012694:Serine; D012243:Rhodopsin; D011392:Proline