Genetic factors and cerebral palsy
DOI:
https://doi.org/10.13112/pc.1051Keywords:
GENETICS; CEREBRAL PALSY; EXOME; GENOME; SEQUENCE ANALYSISAbstract
Purpose: The historical descriptions of cerebral palsy (CP) contained case reports showing brain injury due to perinatal factors, with evident association between the environment, brain development, and CP. Recent studies indicate that 11 % to 40 % of persons with a clinical diagnosis of CP have monogenic conditions.
Procedures: This review considers recent genetic advances in the diagnostic care of CP and the implications of genomic management for CP.
Main findings: The genes identified in CP directly affect brain development or target other vulnerable tissues. These indirect mechanisms may increase the risk of perinatal stress or severe brain damage, leading to the clinical phenotype of CP. The findings support the idea of multiple possible etiologies leading to CP. As more research focuses on the genetic causes of CP, the list of identified genes provides a starting point for developing CP-specific gene panels. Availability of exome sequencing and budgets for genetic testing are still limited, and genetic markers can help identify individuals with CP who may benefit from genetic testing. There are factors that indicate an increased likelihood of a genomic diagnosis in CP, highlighting the need for a comprehensive genotype-phenotype reference data set to aid variant interpretation in cohorts with CP.
Conclusion: The diagnosis of CP remains clinical, but genetic testing presents an opportunity for the delivery of personalized medicine in populations with CP, adding useful data for targeted management of patients and counseling their families in the contest of genetic guidance.
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