Abstract
Cerebral palsy (CP) is a non-progressive neurological disease, of which susceptibility is linked to genetic and environmental risk factors. More and more studies have shown that CP might be caused by multiple genetic factors, similar to other neurodevelopmental disorders. Due to the high genetic heterogeneity of CP, we focused on investigating related molecular pathways. Ten children with CP were collected for whole-exome sequencing by next-generation sequencing (NGS) technology. Customized processes were used to identify potential pathogenic pathways and variants. Three pathways (axon guidance, transmission across chemical synapses, protein–protein interactions at synapses) with twenty-three genes were identified to be highly correlated with CP. This study showed that the three pathways associated with CP might be the molecular mechanism of pathogenesis. These findings could provide useful clues for developing pathway-based pharmacotherapies. Further studies are required to confirm potential roles for these pathways in the pathogenesis of CP.
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Acknowledgements
This project was funded by the Jiangsu Province Association of Maternal and Child Health (JSPAMACH) [Grant No. f201560].
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QZ designed the scheme, performed the experiments, analyzed the data and wrote the manuscript. YN, JW, HY, QZ, LZ, WB, BL, LK, LX and NL participated in the experiments and data analysis.
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Qingwen Zhu, Yufei Ni, Jing Wang, Honggang Yin, Qin Zhang, Lingli Zhang, Wenjun Bian, Bo Liang, Lingyin Kong, Liming Xuan and Naru Lu declare that they have no conflict of interest.
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The ethical committee of Nantong Municipal Maternal and Child Health Hospital approved this study.
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Zhu, Q., Ni, Y., Wang, J. et al. Identification of pathways and genes associated with cerebral palsy. Genes Genom 40, 1339–1349 (2018). https://doi.org/10.1007/s13258-018-0729-6
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DOI: https://doi.org/10.1007/s13258-018-0729-6