[遗传性出血性毛细血管扩张症继发肺动脉高压家系的遗传学分析]
[Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].
作者信息
Du Xuqin, Wang Yiran, Ye Qiao
机构信息
Department of Occupational Medicine and Toxicology, Beijing Institute of Respiratory Medicine, Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing 100020, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):197-201. doi: 10.3760/cma.j.issn.1003-9406.2018.02.011.
OBJECTIVE
To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT).
METHODS
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.
RESULTS
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.
CONCLUSION
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.
目的
对一个以肺动脉高压（PH）为遗传性出血性毛细血管扩张症（HHT）初始症状的家庭进行基因检测。
方法
采用高通量测序检测内皮素受体B（ENG）、激活素受体样激酶1（ACVRL1）和母亲对果蝇无翅基因同源物4（SMAD4）基因编码区的潜在突变。
结果
在先证者中鉴定出ACVRL1基因的致病性杂合c.814C>T（p.Gln272Ter）突变。她的母亲和两个儿子携带相同的突变。
结论
ACVRL1基因的c.814C>T（p.Gln272Ter）突变可能是该家庭疾病的基础。建议对HHT患者，尤其是患有肺动脉高压的患者进行基因检测。
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