Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family
10.11817/j.issn.1672-7347.2017.09.004
- VernacularTitle:一个遗传性出血性毛细血管扩张症家系的临床和基因诊断
- Author:
Yan YI
1
;
Xiaofeng LIU
;
Boda WU
;
Jun LIU
;
Shenglei GE
;
Xiaoliu SHI
Author Information
1. 中南大学湘雅二医院血液内科
- Keywords:
hereditary hemorrhagic telangiectasia;
clinical diagnosis;
genetic diagnosis;
endoglin;
pathogenic variant
- From:
Journal of Central South University(Medical Sciences)
2017;42(9):1017-1022
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family,and to explore the application of gene mutation testing in HHT diagnosis.Methods:Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria.Sequence analysis of endoglin (ENG) and activin A receptor like type 1 (ACVRL1) gene in the proband was performed with PCR and Sanger sequencing technology.After the possible pathogenic mutation was identified in the proband,the specific mutation was detected in the suspected individuals and part of other family members.Then the genetic diagnoses were concluded.Results:There were 5 family members in 4 generations manifested with epistaxis.According to the clinical diagnosis criteria,the proband with epistaxis,mucocutaneous telangiectases,visceral arteriovenous malformation and family history was diagnosed as HHT;while 2 survival family members with epistaxis and family history were suspected individuals.A substitution mutation in the 5'-untranslated region(5'-UTR) of ENG c.1-127 C＞T was detected in the proband and the 2 suspected individuals,which did not exist in other family members.Based on the clinical and genetic findings,the 2 clinically suspected individuals were diagnosed as HHT.Conclusion:There is great variability of the clinical manifestations among HHT patients.ENG c.1127 C＞T mutation is the possible pathogenic variant of the HHT family.A combination of clinical and genetic diagnosis could improve the diagnosis and treatment of HHT.
