Article
The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.
International journal of molecular sciences - 30 Dec 2022
Snezhkina Anastasiya, Fedorova Maria, Kobelyatskaya Anastasiya, Markova Daria, Lantsova Margarita, Ikonnikova Anna, Emelyanova Marina, Kalinin Dmitry, Pudova Elena, Melnikova Nataliya, Dmitriev Alexey, Krasnov George, Pavlov Vladislav, Kudryavtseva Anna
Abstract excerpt
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine neoplasms derived from the parasympathetic paraganglia of the head and neck. At least 30% of HNPGLs are linked to germline mutations, predominantly in SDHx genes. In this study, we analyzed an extended cohort of Russian patients with HNPGLs using whole-exome sequencing and found a highly frequent missense variant p.H102R in the SDHD gene. We determined...
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