Analysis on the familial variation of SDH gene in three pedigrees with hereditary head and neck paraganglioma
GENG Jia
Mailudan Ainiwaer
LU Yu
CHEN Fei
Abstract：Objective To analyze the familial variation of SDH gene in three pedigrees with hereditary head and neck paraganglioma.Methods Three patients with head and neck paraganglioma(probands)who were admitted to Department of Otolaryngology,Head and Neck Surgery,West China Hospital of Sichuan University from January 2022 to December 2023 and their family members were selected.The peripheral venous blood of 200 μL was collected from the study subjects,and their genomic DNA were extracted and sequenced,and the candidate variants were sequenced by using Sanger sequencing and were analyzed for pathogenicity.Results The three pedigrees were diagnosed with para-ganglioma caused by heterozygous variations of SDHD NM_003002.4:c.1A＞G,SDHD NM_003002.4:c.274G＞T and SDHB NM_003000.3:c.689G＞A,respectively,all of which were previously reported variations.Conclusion Conducting genetic testing on patients with head and neck paraganglioma can clarify the cause of the disease and provide reference for genetic counseling.
Keywords：Hereditary head and neck paragangliomaSDH geneWhole genome sequencingGenetic variant
Publication Date：2024-04-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 389-393 )