Article
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2025
Vulto-van Silfhout Anneke T, Jazet Ingrid M, Yzer Suzanne, Pas Jeroen, Demirdas Serwet, van Rossum Elisabeth F C, Thiadens Alberta A H J, van Beek Ronald, Haer-Wigman Lonneke, Barge-Schaapveld Daniela Q C M, Brasch-Andersen Charlotte, Frost Simon, Bauwens Miriam, De Baere Elfride, Balikova Irina, Van den Broeck Filip, Weisz-Hubshman Monika, Joset Pascal, Miny Peter, Filges Isabel, Kohl Susanne, De Angeli Pietro, Kühlewein Laura, Bodenbender Jan-Philipp, Haack Tobias, Poths Karin, Fernandez-Caballero Lidia, Corton Marta, Blanco Kelly Fiona, Ayuso Carmen, Martínez-Esteban Peggy, Vissing John, Díaz-Manera Jordi, Straub Volker, Töpf Ana, Lin Siying, Arno Gavin, Macken William L, Spillane Jennifer, Ramachandran Radha, de Vrieze Erik, van Ham Tjakko, Roosing Susanne, Oud Machteld M
Abstract excerpt
PURPOSE: A homozygous loss-of-function (LoF) variant in POC5 was previously described in an individual with retinitis pigmentosa. We identified POC5 variants in 12 probands with a syndromic phenotype. We aim to define the phenotype spectrum and molecular mechanism associated with biallelic POC5 LoF variants. METHODS: We studied a cohort of 12 families with bi-allelic LoF POC5 variants and performed detailed...
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