Gene identification in a family of hereditary hemorrhagic telangiectasia / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 476-479, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-1011789
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Telangiectasia, Hereditary Hemorrhagic
/
Genetic Testing
/
Exons
/
Endoglin
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2018
Type:
Article
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