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Lookup NU author(s): Dr Rob ForsythORCiD, Dr Eleri Williams, Dr Michael Wright, Dr Karin EngelhardtORCiD, Dr Dipayan Mitra, Professor Sophie HambletonORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Objective To raise awareness of a novel neuroinflammatory syndrome associated with TONSL DNA repair defects Methods Case review with neuroradiology, neuropathology, functional data and review of the literature. Results Tonsoku-like, DNA repair protein (TONSL) mutations have recently been described as the cause of SPONASTRIME dysplasia, a syndrome of skeletal dysplasia, disproportionate short stature and immunodeficiency. We describe a novel, striking chronic, relapsing-remitting CNS neuroinflammatory process as a previously unreported feature of the SPONSASTRIME phenotype in a patient with novel compound heterozygote TONSL mutations. Discussion This is the first report of a chronic, relapsing-remitting neuroinflammatory process associated with immuno-osseous dysplasia due to TONSL gene variants.
Author(s): Forsyth R, Williams E, Cooke SL, Wright M, Engelhardt KR, Mitra D, Merve A, Joshi A, Stewart GS, Hambleton S
Publication type: Article
Publication status: Published
Journal: Wellcome Open Research
Year: 2025
Volume: 10
Pages: 311
Online publication date: 09/06/2025
Acceptance date: 09/06/2025
Date deposited: 19/06/2025
ISSN (electronic): 2398-502X
Publisher: Wellcome Trust
URL: https://doi.org/10.12688/wellcomeopenres.23663.1
DOI: 10.12688/wellcomeopenres.23663.1
Data Access Statement: Underlying data Newcastle University: Extended data for Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME dysplasia. https://doi.org/10.25405/data.ncl.286333587. This project contains the following underlying data: - Excel file containing raw data for the quantification of spontaneously stalled forks (Figure 4b), replication track length before and after exposure to camptothecin (CPT) (Figure 4c) and CPT-induced RAD51 foci (Figure 4d) in WT fibroblasts (WT1) and fibroblasts from the affected proband (patient). - Pdf file containing uncropped images of the Western blots used in Figure 4a and 4d
Notes: This paper is awaiting peer review
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