Article
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
Annals of neurology - 1 Sept 2026
Ramos Luiza L P, Parmar Jevin M, Wijngaard Robin, Grosz Bianca R, Lazar Tamas, Mateiu Ligia, Vucic Steve, Kumar Kishore R, Yeow Dennis, Rudaks Laura I, de Boer Lonneke, de Vreugd Annemarie, Koolen David A, Gardeitchik Thatjana, Cairns Anita, Iyengar Krishnan, Kok Fernando, Figueiredo Fernanda Barbosa, de Siqueira Carvalho Alzira Alves, Mageste Barbosa Luiz S, Arantes Rodrigo Rezende, Rehbein Tyler, Bontrager Jordan E, Wood Elizabeth P, Sowden Janet E, Monahan Gavin, Kumaheri Meutia, Cuijt Ivy, Ellis Melina, Perez-Siles Gonzalo, McNamara Elyshia, van Beek Ronald, Meijers Celine B, Tournev Ivaylo, Zuchner Stephan, Wodak Shoshana J, van Karnebeek Clara D M, Laing Nigel, Semcesen Liana N, Stroud David A, Herrmann David N, Guergueltcheva Velina, Kennerson Marina L, Oud Machteld M, Ravenscroft Gianina, Candayan Ayse, Jordanova Albena
Abstract excerpt
OBJECTIVE: Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy. We describe a novel Pol III-related disorder caused by monoallelic variants in POLR3A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.