Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia.
- Author:
Xuqin DU
1
;
Yiran WANG
;
Qiao YE
Author Information
- Publication Type:Case Reports
- MeSH: Activin Receptors, Type II; genetics; Child; Endoglin; genetics; Female; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hypertension, Pulmonary; etiology; genetics; Male; Middle Aged; Mutation; Telangiectasia, Hereditary Hemorrhagic; complications
- From: Chinese Journal of Medical Genetics 2018;35(2):197-201
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT).
METHODSHigh throughput sequencing was performed to detect potential mutation in the coding regions of endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4) genes.
RESULTSA pathogenic heterozygous c.814C>T (p.Gln272Ter) mutation of the ACVRL1 gene was identified in the proband. Her mother and two sons have carried the same mutation.
CONCLUSIONThe c.814C>T (p.Gln272Ter) mutation of the ACVRL1 gene probably underlies the disease in this family. Genetic testing should be recommended to HHT patient, in particular those with pulmonary hypertension.
