Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort

Objective To explore the genetic spectrum of cerebral palsy (CP) in a Chinese paediatric cohort. Study design This was a retrospective observational study of patients with CP from the Children’s Hospital of Fudan University between June 2015 and December 2019. Their clinical data and exome sequencing data were collected and analysed. Results A total of 217 patients with CP were enrolled, and genetic variants were identified in 78 subjects (35.9%): 65 patients with single-nucleotide variants (SNVs), 12 patients with copy number variants (CNVs) and one patient with both an SNV and a CNV. The genetic diagnosis rates were significantly higher in patients without clinical risk factors than in patients with clinical risk factors (χ 2 =21.705, P = .000) and were significantly higher in patients with a family history than in those without a family history (χ 2 =4.493, P=0.034). Variants in genes related to neurologic disorders were the most commonly detected variants, affecting 41 patients (62.1%, 41/66). Among the patients with SNVs detected, the top 12 genes were found to cover 62.1% (41/66) of cases, and 39.4% (26/66) of patients with SNVs had medically actionable genetic findings. Conclusions The overall genetic diagnostic rate in this study was 35.9%, and patients without any clinical risk factors or with a family history were more likely to have genetic risk factors. The top 12 genes detected in this study as well as genes related to neurologic disorders or other medically actionable disorders should be noted in the analysis of genetic testing results in patients with CP.