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Type: Journal article
Title: Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism
Author: Van Eyk, C.
Corbett, M.
Gardner, A.
Van Bon, B.
Broadbent, J.
Harper, K.
MacLennan, A.
Gecz, J.
Citation: Translational Psychiatry, 2018; 8(1):88 -1-88 -10
Publisher: Nature Publishing Group
Issue Date: 2018
ISSN: 2158-3188
Statement of
Clare L. van Eyk, Mark A. Corbett, Alison Gardner, Bregje W. van Bon, Jessica L. Broadbent, Kelly Harper, Alastair H. MacLennan and Jozef Gecz
Abstract: Cerebral palsy (CP) is the most common motor disability of childhood. It is characterised by permanent, non-progressive but not unchanging problems with movement, posture and motor function, with a highly heterogeneous clinical spectrum and frequent neurodevelopmental comorbidities. The aetiology of CP is poorly understood, despite recent reports of a genetic contribution in some cases. Here we demonstrate transcriptional dysregulation of trophic signalling pathways in patient-derived cell lines from an unselected cohort of 182 CP-affected individuals using both differential expression analysis and weighted gene co-expression network analysis (WGCNA). We also show that genes differentially expressed in CP, as well as network modules significantly correlated with CP status, are enriched for genes associated with ASD. Combining transcriptome and whole exome sequencing (WES) data for this CP cohort likely resolves an additional 5% of cases separated to the 14% we have previously reported as resolved by WES. Collectively, these results support a convergent molecular abnormality in CP and ASD.
Keywords: Cell Line; Humans; Cerebral Palsy; Genetic Predisposition to Disease; Receptor, trkB; Membrane Glycoproteins; Cohort Studies; Gene Expression Profiling; Signal Transduction; Gene Expression Regulation, Developmental; Female; Male; Receptor, Fibroblast Growth Factor, Type 1; Gene Regulatory Networks; Transcriptome; Autism Spectrum Disorder; Whole Exome Sequencing
Rights: © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any mediumor format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changesweremade. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
RMID: 0030086195
DOI: 10.1038/s41398-018-0136-4
Grant ID:
Appears in Collections:Genetics publications

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