1.Genetic analysis of 10 children with cerebral palsy.
Qingwen ZHU ; Yufei NI ; Jing WANG ; Honggang YIN ; Qin ZHANG ; Wenjun BIAN ; Lingli ZHANG ; Mengsi LIN ; Jiangyue LIU ; Jun ZHOU ; Chunxiu SHA ; Xiang ZHOU
Chinese Journal of Medical Genetics 2019;36(3):229-233
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.
Cerebral Palsy
;
genetics
;
Child
;
Genetic Testing
;
Humans
;
Phenotype
;
Whole Exome Sequencing
;
Whole Genome Sequencing