Objective: To explore the diagnostic significance of the combination of clinical and genetic detection of hereditary hemorrhagic telangiectasia (HHT) by analyzing the clinical and genetic diagnosis of a family with HHT. Methods: Medical history data of the probands and their family members were collected, and the sequence analyses of coding regions of ENG, ACVRL1, SMAD4 and GDF2 genes were performed by PCR-sequencing method, and a comprehensive diagnosis was made based on the clinical features and gene detection results. After the pathogenic gene variation was identified, 11 members of 3 generations of the family were tested for pathogenic gene mutation. Results: There was an ACVRL1 c.715_716delAG mutation in the proband and 9 other family members, which caused p.S239C. Based on the clinical and genetic findings, the 7 suspected were diagnosed and 2 asymptomatic patients were found to carry the mutation site. Conclusion: The combination of clinical features and gene detection can determine the etiology and classification of HHT, which is convenient for the early diagnosis and prevention of the disease.
目的： 通过分析一个遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangiectasia，HHT）家系的临床和基因诊断，探索临床及基因检测结合的方法对该病的诊断意义。 方法： 收集先证者及其家系成员的病史资料，应用聚合酶链反应测序的方法对ENG、ACVRL1、SMAD4和GDF2基因编码区进行序列分析，结合临床特征及基因检测结果进行综合诊断。鉴定出致病性基因变异后，对家系中3代11名成员进行致病基因突变检测。 结果： 先证者及其他9名家系成员中存在ACVRL1基因c.715_716delAG突变，引起p.S239C，第239位的半胱氨酸替换了丝氨酸，7例疑诊病例得到确诊，检测到2例无症状患者携带突变位点。 结论： 临床特征和基因检测相结合的方法可确定HHT的病因并分类诊断，便于HHT的早期诊断及预防。.