Disease Category: autosomal recessive
Known Clinical Trials:
Part of Research Study:
Targeted Strategies to Preserve Eye Health:
Institution(s) Conducting Research: Radboud UMC & Donders Institute
IN THE NEWS
ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES
PRCD R17C Mutation Associated with Retinitis Pigmentosa in Humans Affects Protein Stability and Localization
Linkage analysis and comparative mapping of canine progressive rod–cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans
RETINITIS PIGMENTOSA: causes of peripheral and night vision loss
Gabrielle Hamner, Joseph Murphy, Emily Sechrest, Sree Motipally, Saravanan Kolandaivelu|ARVO Annual Meeting Abstract| June 2020
Gregory M. Acland, Kunal Ray, Cathryn S. Mellersh, Weikuan Gu, Amelia A. Langston, Jasper Rine, Elaine A. Ostrander, Gustavo D. Aguirre, Proceedings of National Academy of Sciences, Vol 95 (6), 3048-3053, 17 Mar 1998.
Shiley Eye Institute|University of California, San Diego Health
Our studies demonstrate that an R17C mutation in PRCD does not affect membrane association or palmitoylation. However, the mutation does affect PRCD protein stability and trafficking to the photoreceptor OS, which may be why this mutation is associated with RP in human patients.
Progressive rod–cone degeneration (prcd) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically is the canine counterpart of retinitis pigmentosa (RP) in humans. In previous efforts to identify the genetic locus for prcd, the canine homologs for many of the genes causally associated with RP in humans, such as RHO, PDE6B, and . . .
We are focusing on identifying genes causing autosomal dominant form of RP and elucidating underlying pathogenic mechanisms. We show that missense mutations in CAIV , a gene not expressed in retina including photoreceptors or RPE, are responsible for an autosomal dominant form of retinitis pigmentosa (RP17).
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Suzanne E. de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uira S. Melo, Julio C. Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Silvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F. Lucy Raymond, Jordi Corominas, Claire E.L. Smith, Hannie Kremer, Susan Downes, Graeme C. Black, Andrew R. Webster, Chris F. Inglehearn, L. Ingeborgh van den Born, Robert K. Koenekoop, Michel Michaelides, Raj S. Ramesar, Carel B. Hoyng, Stefan Mundlos, Musa M. Mhlanga, Frans P.M. Cremers, Michael E. Cheetham, Susanne Roosing, and Alison J. Hardcastle, American Journal of Human Genetics, Vol 107, 802–814, 5 Nov 2020.
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After thirty years of research, the genetic defect that causes the eye disease retinitis pigmentosa type 17 (RP17) has finally been discovered. Molecular geneticists Susanne Roosing and Suzanne de Bruijn located the gene defect by examining the genetic material (DNA) of a large Dutch family that had been forwarded by physicians from the Department of Ophthalmology.