Ontology highlight
ABSTRACT:
SUBMITTER: Peeters MHCA
PROVIDER: S-EPMC9290825 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Peeters Manon H C A MHCA Khan Mubeen M Rooijakkers Anoek A M B AAMB Mulders Timo T Haer-Wigman Lonneke L Boon Camiel J F CJF Klaver Caroline C W CCW van den Born L Ingeborgh LI Hoyng Carel B CB Cremers Frans P M FPM den Hollander Anneke I AI Dhaenens Claire-Marie CM Collin Rob W J RWJ
Human mutation 20210920 12
Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel PRPH2 variants in eight additional index patients. The pathogenicity of all variants was det ...[more]