| 摘要: |
| ［摘要］ 目的 对三个遗传性家族性头颈副神经节瘤家系进行SDH基因家族变异分析。方法 选择2022年1月至2023年12月四川大学华西医院耳鼻咽喉头颈外科收治的3例头颈副神经节瘤患者（先证者）及其家系成员，采集研究对象外周静脉血200 μL，提取基因组DNA后进行测序，并对候选变异进行Sanger测序和致病性分析。结果 三个家系分别诊断为SDHD NM_003002.4:c.1A>G、SDHD NM_003002.4:c.274G>T和SDHB NM_003000.3:c.689G>A杂合变异导致的副神经节瘤，均为已报道过的变异。结论 对头颈副神经节瘤患者开展基因检测可以明确其致病原因，为遗传咨询提供参考。 |
| 关键词: 遗传性家族性头颈副神经节瘤 SDH基因家族 全基因组测序 基因变异 |
| DOI：10.3969/j.issn.1674-3806.2024.04.07 |
| 分类号: |
| 基金项目:国家重点研发计划项目（编号：2021YFC1005301） |
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| Analysis on the familial variation of SDH gene in three pedigrees with hereditary head and neck paraganglioma |
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GENG Jia1,2, Mailudan Ainiwaer1, LU Yu1,2, CHEN Fei1
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1.Department of Otolaryngology, Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu 610041, China; 2.Research Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu 610000, China
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| Abstract: |
| ［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 paraganglioma 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. |
| Key words: Hereditary head and neck paraganglioma SDH gene Whole genome sequencing Genetic variant |
