Department of rehabilitation, Anhui Provincial Children's Hospital, No.39, Wangjiang Road, Baohe District, Hefei, 230051, China.
BMC Pediatr. 2024 Nov 25;24(1):766. doi: 10.1186/s12887-024-05245-5.
Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective method for uncovering genetic causes in patients with unexplained DD/ID.
We retrospectively analyzed WES data from 280 patients diagnosed with unexplained DD/ID. Demographic information and genetic variants identified through WES were assessed, along with an evaluation of clinical factors that might influence the detection of genetic causes.
Pathogenic variants were detected in 73 cases (36.07%), including 25 cases involving pathogenic chromosomal copy number variations. Clinical factors such as age, sex, gestational age, birth weight, anoxia, jaundice, associated symptoms, family history, muscle strength, muscle tone, epilepsy, brain MRI findings, EEG results, and the severity of DD/ID did not significantly impact the WES outcomes. However, a significant correlation was observed between delivery mode and positive WES results, with a higher diagnostic yield among patients delivered via caesarean section.
WES is a valuable approach for identifying genetic causes in patients with unexplained DD/ID, providing benefits for patient management, family genetic counseling, and long-term prognosis assessment.
Not applicable.
发育迟缓（DD）和智力障碍（ID）是神经发育障碍（NDD）的主要表现，其具有显著的临床和遗传变异性，这使得遗传诊断变得复杂。全外显子组测序（WES）已成为揭示不明原因的 DD/ID 患者遗传病因的有效方法。
我们回顾性分析了 280 例诊断为不明原因的 DD/ID 患者的 WES 数据。评估了 WES 确定的人口统计学信息和遗传变异，以及评估可能影响遗传病因检测的临床因素。
在 73 例（36.07%）中检测到致病性变异，包括 25 例涉及致病性染色体拷贝数变异。年龄、性别、胎龄、出生体重、缺氧、黄疸、伴随症状、家族史、肌力、肌张力、癫痫、脑 MRI 发现、脑电图结果和 DD/ID 的严重程度等临床因素对 WES 结果没有显著影响。然而，分娩方式与 WES 阳性结果之间存在显著相关性，剖宫产分娩的患者诊断阳性率更高。
WES 是一种识别不明原因的 DD/ID 患者遗传病因的有效方法，有助于患者管理、家庭遗传咨询和长期预后评估。
不适用。
