Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT).</p><p><b>METHODS</b>High 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.</p><p><b>RESULTS</b>A 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.</p><p><b>CONCLUSION</b>The 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.</p>