Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Nat Med
; 30(5): 1395-1405, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38693247
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paralisia Cerebral
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Heterogeneidade Genética
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Variações do Número de Cópias de DNA
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Sequenciamento do Exoma
Limite:
Child
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Child, preschool
/
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Nat Med
Assunto da revista:
BIOLOGIA MOLECULAR
/
MEDICINA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China