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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Human mutation - 1 Dec 2021

Peeters Manon H C A, Khan Mubeen, Rooijakkers Anoek A M B, Mulders Timo, Haer-Wigman Lonneke, Boon Camiel J F, Klaver Caroline C W, van den Born L Ingeborgh, Hoyng Carel B, Cremers Frans P M, den Hollander Anneke I, Dhaenens Claire-Marie, Collin Rob W J

Abstract excerpt

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...

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Identifiers

PMID: 34411390
DOI: 10.1002/humu.24275
PMCID: PMC9290825

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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