Ma J L, Zhou Z, Li Y, Zhang C, Duan F H, Wang G M
Department of School of Clinical Medicine, Dali University, Dali 671000, China.
Department of Radiology, First Affiliated Hospital of Dali University, Dali 671000, China.
Zhonghua Jie He He Hu Xi Za Zhi. 2023 Sep 12;46(9):916-920. doi: 10.3760/cma.j.cn112147-20230530-00272.
To explore the genetic characteristics of a family with hereditary hemorrhagic telangiectasia (HHT) caused by () gene mutations. 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. 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 gene c.579_599del non-shift deletion mutation, and Sanger sequencing showed that the mother, daughter, and cousin carried the same mutation. gene c.579_ 599del mutation may be the genetic basis of HHT in this family.
探索由（）基因突变引起的遗传性出血性毛细血管扩张症（HHT）家系的遗传特征。选取大理大学第一附属医院就诊的一个三代HHT家系中的17名个体作为研究对象。收集HHT家系先证者的临床资料和家族疾病状况。采用全外显子测序技术在先证者中筛查可疑致病基因，并用Sanger测序进行家系验证。先证者及其母亲有反复鼻出血和皮肤黏膜毛细血管扩张，先证者及其母亲、女儿和表妹的胸部增强CT扫描显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基因c.579_599del无移码缺失突变，Sanger测序显示母亲、女儿和表妹携带相同突变。基因c.579_599del突变可能是该家系HHT的遗传基础。
