摘要 目的 对1例LEOPARD综合征患儿进行相关基因的检测，以明确其致病基因。 方法 收集疑似LEOPARD综合征患儿及其父母临床资料和外周血，设计捕获芯片，通过高通量二代测序、生物信息分析及突变验证进行基因突变检测。 结果 发现RAF1基因新生突变c.1082G＞C，其父母RAF1基因正常。患儿智力落后，认知异常，皮肤粗糙，特殊分布的雀斑样痣，面部特殊，听力正常，视力下降，心电图显著异常，心脏超声显示肥厚型心肌病。 结论 RAF1基因新生突变c.1082G＞C为导致该患儿临床表型的原因。 Abstract：Objective To investigate the pathogenic gene of LEOPARD syndrome (LS) by conducting a series of gene detection tests. Methods Clinical data and peripheral blood samples were collected from a child suspected of LS and the parents, capture chips were designed, and then high-throughput next-generation sequencing, bioinformatics analysis, and mutation validation were performed for the detection of gene mutation. Results A de novo mutation, c.1082G>C, was found in the RAF1 gene of this child, while the parents had normal RAF1 gene. The child had the symptoms of mental retardation, abnormal cognition, rough skin, lentigines with special distribution, unusual facies, normal hearing, impaired vision, abnormal electrocardiographic findings, and hypertrophic cardiomyopathy on echocardiography. Conclusion The de novo mutation of the RAF1 gene (c.1082G>C) is the cause of the clinical phenotype of this child
