The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma

Abstract

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.

Keywords:

• Carotid body tumor
• gene mutation
• SDHD gene
• Succinate dehydrogenase
• paraganglioma

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This study was supported by the program of the Federal Agency of Scientific Organization ‘Molecular and Cellular Biology’ and by the Leading Scientific School supporting program SS_2017.2014.4.