Genetic variants may contribute to cerebral palsy, study finds

A large study analysing the DNA of children with cerebral palsy has found a high prevalence of genomic variation that likely contributed to the risk of developing the condition.

 

The investigators performed whole-genome sequencing in 327 children with cerebral palsy and their biological parents, as well as two paediatric control cohorts.

 

They found that 11.3% of the children with cerebral palsy had a genomic variation that likely contributed to their risk for developing the condition. Another 17.7% had variants of uncertain significance.

 

The study analysed samples from the biological parents of the children with cerebral palsy. The 'trio data', which included samples from the child and both biological parents, allowed researchers to determine whether the genetic variation was inherited or a newly developed de novo change.

 

The findings showed a high prevalence of de novo variations, which are more likely to cause complications. The investigators also included two control cohorts of children without cerebral palsy. This offered the researchers more information on the clinical importance of these genes, according to study author Darcy Fehlings, senior clinician scientist at Holland Bloorview Kids Rehabilitation Hospital and professor of pediatrics at the University of Toronto, Ontario.

 

The study is published in the journal Nature Genetics.