Genetic analysis of 10 children with cerebral palsy.
10.3760/cma.j.issn.1003-9406.2019.03.009
- Author:
Qingwen ZHU
1
;
Yufei NI
;
Jing WANG
;
Honggang YIN
;
Qin ZHANG
;
Wenjun BIAN
;
Lingli ZHANG
;
Mengsi LIN
;
Jiangyue LIU
;
Jun ZHOU
;
Chunxiu SHA
;
Xiang ZHOU
Author Information
1. Nantong Maternal and Child Health Care Hospital, Nantong, Jiangsu 210036, China. 87183653@qq.com.
- Publication Type:Journal Article
- MeSH:
Cerebral Palsy;
genetics;
Child;
Genetic Testing;
Humans;
Phenotype;
Whole Exome Sequencing;
Whole Genome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(3):229-233
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of cerebral palsy (CP).
METHODS:A pair of twins with cerebral palsy and different phenotypes were subjected to whole genome sequencing, and other 8 children with CP were subjected to whole exome sequencing. Genetic variations were screened by a self-designed filtration process in order to explore the CP-related biological pathways and genes.
RESULTS:Three biological pathways related to CP were identified, which included axon guiding, transmission across chemical synapses and protein-protein interactions at synapses, and 25 susceptibility genes for CP were identified.
CONCLUSION:The molecular mechanism of CP has been explored, which may provide clues for development of new treatment for CP.
