BCOR基因致眼面心牙综合征的系统评价

Oculo-facio-cardio-dental syndrome caused by the BCOR gene:a systematic review

目的系统评价眼面心牙(OFCD)综合征患者的临床表现和基因突变检测结果,为诊断和防治提供参考。方法计算机检索PubMed、EMbase、The Cochrane Library、Web of Science、CBM、WanFang Data和CNKI数据库搜集OFCD综合征的相关研究,检索时限均从建库至2022年3月1日。由2位评价员独立筛选文献、提取资料并评价纳入研究的偏倚风险后进行系统评价。结果共纳入19个研究,包括83例OFCD综合征患者,平均年龄15.95±16.03岁,其中男性5例,女性78例。临床表现主要包括眼部疾病、面部异常、心脏疾病、牙齿异常、肢体异常和其他系统功能异常等。共71例OFCD综合征患者检测出BCOR基因突变,检出率为86%[95%CI(78%,93%)],其中男性5例,检出率为6%[95%CI(1%,11%)],女性66例,检出率为80%[95%CI(71%,88%)]。治疗手段常基于临床和影像学表现,采用多学科交叉的对症疗法。结论针对OFCD综合征的鉴别诊断不仅要基于典型的临床表现,还应通过BCOR基因检测进行综合判断。建议未来研究更多地聚焦于基因治疗。

Objective To systematically review the clinical presentations and gene types of oculo-facio-cardio-dental(OFCD)syndrome and to provide a theoretical basis for future diagnosis,prevention,and treatment of the disease.Methods The PubMed,EMbase,The Cochrane Library,Web of Science,CBM,WanFang Data,and CNKI databases were electronically searched to collect studies on OFCD syndrome published from inception to March 1st,2022.Two reviewers independently screened the literature,extracted data,and assessed the risk of bias of the included studies.A systematic review was then performed.Results A total of 19 studies involving 83 patients with OFCD syndrome were included.The patients had an average age of 15.95±16.03 years,including 5 males and 78 females.The clinical presentations mainly included ocular disorders,facial abnormalities,cardiac disorders,dental abnormalities,physical anomalies,and dysfunctions of other body systems.BCOR gene mutations were detected in 71 patients with OFCD syndrome(overall detection rate:86%,95%CI 78%to 93%),of whom five were males(detection rate:6%,95%CI 1%to11%)and 66 were females(detection rate:80%,95%CI 71%to 88%).Patients were mostly treated using multidisciplinary symptomatic treatment approaches based on clinical presentations and imaging findings.Conclusion In addition to the typical clinical presentations,BCOR gene testing results should also be taken into consideration for the differential diagnosis of OFCD syndrome.Although symptomatic therapies in clinical practice are relatively mature,they do not address the underlying cause of the disease,i.e.,BCOR gene mutations.In future research,greater attention should be diverted to gene therapy.