Gene identification in a family of hereditary hemorrhagic telangiectasia
10.3760/cma.j.issn.0253-2727.2018.06.007
- VernacularTitle: 一个遗传性出血性毛细血管扩张症家系的基因分析
- Author:
Lihong WANG
1
;
Zhihua ZHANG
;
Cuihong GU
;
Li LIN
;
Taoran WANG
;
Changlai HAO
Author Information
1. Department of Hematology, Affiliated Hospital of Chengde Medical College, Chengde 067000, China
- Publication Type:Journal Article
- Keywords:
Telangiectasia, hereditary hemorrhagic;
Gene, ENG;
Frameshift mutation;
Pedigree
- From:
Chinese Journal of Hematology
2018;39(6):476-479
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis.
Methods:A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger.
Results:9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation: c.1502-1503insGG (p.Gly501GlyfsX18) , and mutations in ACVRL1 and SMAD4 genes were not detected.
Conclusion:The frameshift mutation c.1502-1503insGG (p.Gly501GlyfsX18) of the ENG gene is the genetic basis for the pathogenesis of this HHT family.
