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期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-024-02912-z

摘要内容如下：

脑瘫是儿童最常见的运动障碍。为了确定主要遗传变异在慢性胰腺炎病因中的作用，我们对具有慢性胰腺炎临床表现的大规模队列进行了外显子组测序。研究队列包括505名女孩和1，073名男孩。利用目前基因诊断的黄金标准，这1578名儿童中有387名（24.5%）接受了基因诊断。我们在219个与神经发育障碍相关的基因中鉴定了412个致病性和可能致病性（P/LP）变异，以及59P/LP拷贝数变异。出生时有围产期窒息史的脑瘫患儿的基因诊断率高于出生时无窒息史的患儿（P=0.0033）。此外，33名有脑瘫表现的儿童（8.5%，387名中的33名）有临床可操作的发现。这些结果强调了对脑瘫患儿进行早期基因检测的必要性，尤其是那些有围产期窒息等危险因素的患儿，以使循证医学决策成为可能。

英文原文如下：

Abstracts

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.

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