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Transl Psychiatry. 2018 Apr 23;8(1):88. doi: 10.1038/s41398-018-0136-4.

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Author information

1
Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
2
Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
3
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
4
Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. jozef.gecz@adelaide.edu.au.
5
Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. jozef.gecz@adelaide.edu.au.
6
South Australian Health and Medical Research Institute, Adelaide, SA, Australia. jozef.gecz@adelaide.edu.au.

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.

PMID:
29681622
PMCID:
PMC5911435
DOI:
10.1038/s41398-018-0136-4
[Indexed for MEDLINE]
Free PMC Article

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