title: Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
abstract: 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.
authors.affiliation: Department of Genetics, Universidad Autonoma, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: B
authors.initials: B
authors.lastname: Garcia-Sandoval
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: A
authors.initials: A
authors.lastname: Gimenez
authors.forename: R
authors.initials: R
authors.lastname: Sanz
authors.lastname: Rodriguez de Alba M
authors.forename: M C
authors.initials: MC
authors.lastname: Gonzalez-Gonzalez
authors.forename: A
authors.initials: A
authors.lastname: Ibañez
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: 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
chemical_list: D012694:Serine; D012243:Rhodopsin; D011392:Proline