Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.
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.
Trujillo
M J
MJ
Department of Ophthalmology, Fundación Jiménez Dáz, Avenida de los Reyes Católicos No 2, 28040 Madrid, Spain fjd@genetica.jet.es
Bueno
J
J
Osorio
A
A
Sanz
R
R
Garcia-Sandoval
B
B
Ramos
C
C
Ayuso
C
C
D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D013030:Spain