Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations
✍ Scribed by MJ Trujillo; J Bueno; A Osorio; R Sanz; B Garcia-Sandoval; C Ramos; C Ayuso
- Book ID
- 101259475
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 64 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
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.
RDS-peripherin gene encodes a membrane protein of 346 aminoacides expressed in both rod and cone outer segments which participates in the maintenance of the disc rim structure. .
This protein is involved in many inherited retinal diseases resulting in a variety of clinical features. Mutations in RDS-peripherin gene explain 3% of ADRP ( Autosomal Dominant Retinitis Pigmentosa ) a typical disorder of rod cells. Moreover, atypical forms of ADRP (RP Punctata Albescens) and digenic RP with a mutation in RDS-peripherin gene causing the retinal disease alone or when combined with another mutation in ROM-1 gene have been reported . There is also a heterogeneous group of macular dystrophies including vitelliform, butterfly-shaped pigmentary, central areolar choroidal, pattern and foveomacular dystrophies of wich the mutations in RDS-peripherin gene has been responsible .