Gene identification in a family of hereditary hemorrhagic telangiectasia.
10.3760/cma.j.issn.0253-2727.2018.06.007
- Author:
Li hong WANG
1
;
Zhi Hua ZHANG
;
Cui Hong GU
;
Li LIN
;
Tao Ran WANG
;
Chang Lai HAO
Author Information
1. Department of Hematology, Affiliated Hospital of Chengde Medical College, Chengde 067000, China.
- Publication Type:Journal Article
- Keywords:
Frameshift mutation;
Gene, ENG;
Pedigree;
Telangiectasia, hereditary hemorrhagic
- MeSH:
Endoglin;
Exons;
Genetic Testing;
Humans;
Mutation;
Telangiectasia, Hereditary Hemorrhagic
- 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.
