Nature medicine · 2024
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Wang Yangong, Xu Yiran, Zhou Chongchen, Cheng Ye, Qiao Niu, Shang Qing, Xia Lei, Song Juan, Gao Chao, Qiao Yimeng, Zhang Xiaoli, Li Ming, Ma Caiyun, Fan Yangyi, Peng Xirui, Wu Silin, Lv Nan, Li Bingbing, Sun Yanyan, Zhang Bohao, Li Tongchuan, Li Hongwei, Zhang Jin, Su Yu, Li Qiaoli, Yuan Junying, Liu Lei, Moreno-De-Luca Andres, MacLennan Alastair H, Gecz Jozef, Zhu Dengna, Wang Xiaoyang, Zhu Changlian, Xing Qinghe
Аннотация
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59 P/LP copy number variants. The genetic diagnostic rate of children with CP labeled at birth with perinatal asphyxia was higher than the rate in children without asphyxia (P = 0.0033). Also, 33 children with CP manifestations (8.5%, 33 of 387) had findings that were clinically actionable. These results highlight the need for early genetic testing in children with CP, especially those with risk factors like perinatal asphyxia, to enable evidence-based medical decision-making.