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. 2018 Jun 14;39(6):476-479.
doi: 10.3760/cma.j.issn.0253-2727.2018.06.007.

[Gene identification in a family of hereditary hemorrhagic telangiectasia]

[Article in Chinese]
L L Wang  1 , Z H Zhang, C H Gu, L Lin, T R Wang, C L Hao
Affiliations

[Gene identification in a family of hereditary hemorrhagic telangiectasia]

[Article in Chinese]
L L Wang et al. Zhonghua Xue Ye Xue Za Zhi. .

Abstract
in English, Chinese

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.

目的： 研究一个遗传性出血性毛细血管扩张症（HHT）家系的ENG、ACVRL1、SMAD4基因突变情况，探讨其分子发病机制。 方法： 对1例HHT患者进行临床诊断和家系调查。采集先证者及其长子外周血标本，应用芯片捕获高通量测序法进行ENG、ACVRL1、SMAD4基因分析，对检出的突变以Sanger测序法进行验证。 结果： 71名家系成员中有9名被临床诊断为HHT，均以反复鼻腔出血为主要表现。基因分析结果显示，先证者及其长子ENG基因9号外显子存在框移突变c.1502-1503insGG（p.Gly501GlyfsX18），未检出ACVRL1、SMAD4基因突变。 结论： ENG基因框移突变c.1502-1503insGG（p.Gly501GlyfsX18）是这个HHT家系致病的遗传学基础。.

Keywords: Frameshift mutation; Gene, ENG; Pedigree; Telangiectasia, hereditary hemorrhagic.

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Figures

图1
图1. 遗传性出血性毛细血管扩张症（HHT）家系图
图2
图2. 遗传性出血性毛细血管扩张症患者舌体表面毛细血管扩张
图3
图3. 遗传性出血性毛细血管扩张症患者胃、十二指肠黏膜多发毛细血管扩张
图4
图4. 遗传性毛细血管扩张症家系ENG基因测序图
A：先证者ENG基因第9号外显子框移突变c.1502-1503insGG（p.Gly501GlyfsX18）；B：野生型
See this image and copyright information in PMC

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