Objective: To explore the genetic characteristics of a family with hereditary hemorrhagic telangiectasia (HHT) caused by endoglin (ENG) gene mutations. Methods: A total of 17 individuals from a 3-generation HHT family attending the First Affiliated Hospital of Dali University were selected as the research subjects. Clinical data and familial disease status of the HHT family proband were collected. Whole exome sequencing technology was used to screen for suspected pathogenic genes in the proband, and Sanger sequencing was used for family validation. Results: The proband and her mother had recurrent epistaxis and skin mucosal telangiectasia, and enhanced CT scans of the chest of the proband and her mother, daughter, and cousin indicated the presence of varying degrees of pulmonary arteriovenous malformations. The results of the full exon sequencing results showed that the proband carried the ENG gene c.579_599del non-shift deletion mutation, and Sanger sequencing showed that the mother, daughter, and cousin carried the same mutation. Conclusion: ENG gene c.579_ 599del mutation may be the genetic basis of HHT in this family.
目的： 探讨ENG基因变异所致遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangiectasia，HHT）一家系的遗传学特征。 方法： 选取在大理大学第一附属医院就诊的一个HHT家系3代共17人为研究对象。收集该HHT家系先证者的临床资料及家系患病情况。应用全外显子组测序技术对先证者进行疑似致病基因筛选，应用Sanger测序进行家系验证。 结果： 先证者及母亲有反复鼻出血、皮肤黏膜毛细血管扩张表现，先证者及其母亲、女儿和表弟胸部增强CT提示存在不同程度的肺动静脉畸形。全外显子测序结果显示先证者携带ENG基因c.579_599del非移码缺失突变，Sanger测序显示其母亲、女儿和表弟携带相同的变异。 结论： ENG基因c.579_599del突变可能是导致该家系HHT的遗传学基础。.