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

• DOI: 10.1038/s41398-018-0136-4
• Publication Date: 2018-04-18T16:20:11Z
• Authors: Clare L. van Eyk; Mark A. Corbett; Alison Gardner; Bregje W. van Bon; Jessica L. Broadbent; Kelly Harper; Alastair H. MacLe...; Jozef Gecz
• Keywords: Signalling

Cerebral palsy (CP) is the most common motor disability of childhood. It characterised by permanent, non-progressive but not unchanging problems with movement, posture and function, a highly heterogeneous clinical spectrum frequent neurodevelopmental comorbidities. The aetiology CP poorly understood, despite recent reports genetic contribution in some cases. Here we demonstrate transcriptional dysregulation trophic signalling pathways patient-derived cell lines from an unselected cohort 182 CP-affected individuals using both differential expression analysis weighted gene co-expression network (WGCNA). We also show that genes differentially expressed CP, as well modules significantly correlated status, are enriched for associated ASD. Combining transcriptome whole exome sequencing (WES) data this likely resolves additional 5% cases separated to 14% have previously reported resolved WES. Collectively, these results support convergent molecular abnormality