俄罗斯头颈部副神经节瘤患者中SDHD基因突变谱
The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.
作者信息
Shulskaya Marina V, Shadrina Maria I, Bakilina Natalia A, Zolotova Svetlana V, Slominsky Petr A
机构信息
a Department of Molecular Bases of Human Genetics , Institute of Molecular Genetics, Russian Academy of Sciences , Moscow , Russia.
b Department of Radiology and Neurosurgery , N. N. Burdenko Scientific Research Neurosurgery Institute, Russian Academy of Sciences , Moscow , Russia.
出版信息
Int J Neurosci. 2018 Dec;128(12):1174-1179. doi: 10.1080/00207454.2018.1503181. Epub 2018 Oct 30.
AIM OF THE STUDY
It was found that the mutations in the SDHD gene, encoding one of subunits of the succinate dehydrogenase complex, lead to the development of head and neck paraganglioma (HNPGL). We analyzed this gene in 91 patients with HNPGL from Russia.
MATERIALS AND METHODS
DNA was isolated from the whole blood. A screening for mutations was performed by Sanger sequencing.
RESULTS
We revealed three missense mutations that have been described previously: p.Pro81Leu, p.His102Arg, p.Tyr114Cys. Moreover, we identified a novel potentially pathogenic variant (p.Trp105*).
CONCLUSIONS
We found that mutations in the SDHD gene were less common in Russian patients compared with the majority of European populations. It was shown that the p.His102Arg mutation is a major mutation in Russia. We confirmed the previous suggestion that a bilateral localization of the tumor and the carotid type represent a marker of the genetically determined form of HNPGL.
研究目的
已发现编码琥珀酸脱氢酶复合体亚基之一的SDHD基因突变会导致头颈部副神经节瘤（HNPGL）的发生。我们对来自俄罗斯的91例HNPGL患者的该基因进行了分析。
材料与方法
从全血中分离DNA。通过桑格测序法进行突变筛查。
结果
我们发现了3个先前已描述的错义突变：p.Pro81Leu、p.His102Arg、p.Tyr114Cys。此外，我们鉴定出一种新的潜在致病性变异（p.Trp105*）。
结论
我们发现，与大多数欧洲人群相比，SDHD基因突变在俄罗斯患者中不太常见。结果表明，p.His102Arg突变是俄罗斯人群中的主要突变。我们证实了先前的推测，即肿瘤的双侧定位和颈动脉型是遗传性HNPGL的标志物。
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