title: Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.
abstract: Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP.
authors.affiliation: Department of Ophthalmology, Fundación Jiménez Dáz, Avenida de los Reyes Católicos No 2, 28040 Madrid, Spain fjd@genetica.jet.es
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: J
authors.initials: J
authors.lastname: Bueno
authors.forename: A
authors.initials: A
authors.lastname: Osorio
authors.forename: R
authors.initials: R
authors.lastname: Sanz
authors.forename: B
authors.initials: B
authors.lastname: Garcia-Sandoval
authors.forename: C
authors.initials: C
authors.lastname: Ramos
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D013030:Spain