title: [The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].
abstract: We present a Spanish family affected with autosomal dominant pigmentary retinosis in which we have identified the mutation responsible for the disease (Pro347Leu) within the rhodopsin (RHO) gene. Complete ophthalmological and electrophysiological studies were performed in 14 members of this family. The molecular study, performed by SSCP analysis of the 5 exon and the promotor region of the rhodopsin gene, direct sequentiation and restriction analysis with the enzyme Mspl, showed a C-->T change in the second base of 347 codon of RHO gene. This mutation predicts a change of proline by leucine at this position. Every patient with the mutation showed a phenotype of diffuse, early onset and severe pigmentary retinosis with a little intrafamiliar variation. The Pro347Leu mutation, that has been very frequently described among all the populations, has been identified as a cause of RP in an Spanish family.
authors.affiliation: Servicio de Genética, Fundación Jiménez Díaz, Madrid.
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: T
authors.initials: T
authors.lastname: del Río
authors.forename: C
authors.initials: C
authors.lastname: Reig
authors.forename: J
authors.initials: J
authors.lastname: Benítez
authors.forename: B
authors.initials: B
authors.lastname: García Sandoval
authors.forename: M
authors.initials: M
authors.lastname: Carballo
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain
chemical_list: D012243:Rhodopsin
vernacular_title: Mutación Pro347Leu del gen de la rodopsina en una familia española con retinosis pigmentaria autosómica dominate.