| 引用本文: | 耿佳,麦鲁丹·艾尼瓦尔,卢宇,陈飞.遗传性家族性头颈副神经节瘤三个家系的临床和SDHx基因变异分析[J].中国临床新医学,0,():-. |
| Geng Jia,Mailudan Ainiwaer,Lu Yu.遗传性家族性头颈副神经节瘤三个家系的临床和SDHx基因变异分析[J].中国临床新医学,0,():-. |
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| 摘要: |
| 目的:对3个遗传性家族性头颈副神经节瘤家系进行基因分析,总结中国遗传性头颈副神经节瘤的临床和遗传特征。 方法:将2022年至2023年就诊于华西医院耳鼻咽喉头颈外科的3例患者作为研究对象,采集家系内患者和其他成员的外周血,对其DNA进行全基因组测序,并对候选变异进行Sanger测序家系验证和致病性分析。结果:3个家系分别诊断为SDHD基因NM_003002.4:c.1A>G,c.274G>T和SDHB 基因NM_003000.3:c.689G>A杂合变异。均为已报道过的变异。 结论:对头颈副神经节瘤开展基因检测可以明确其致病原因,为患者预后和家庭成员筛查提供指导,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,SDHx基因,全基因组测序,基因变异 |
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| 基金项目:国家重点研发计划项目(编号:2021YFC1005301) |
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| Clinical and SDHx gene variant analysis of three Chinese pedigrees affected with hereditary head and neck paragangliomaGeng Jia1,3, Mailudan Ainiwaer1,2, Lu Yu1,3, Chen Fei1,2 |
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Geng Jia, Mailudan Ainiwaer, Lu Yu
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West China Hospital of Sichuan University
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| Abstract: |
| Object: To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with head and neck paraganglioma. Methods: Three patient diagnoses at Department of Otolaryngology, Head and Neck surgery of West China Hospital from 2022 to 2023 were selected as the study subjects. Genomic DNA was extracted from peripheral blood samples of the probands and family members. Whole genome sequencing (WGS) was carried out to detected pathological variants of probands. Sanger sequencing was used for validating the candidate variant among the pedigrees. Results: The three pedigrees were diagnosed with heterozygous variants of? NM_003002.4:c.1A>G, c.274G>T in SDHD gene, and NM_003000.3:c.689G>A in SDHB gene, respectively. Conclusion: Genetic testing can clarify the molecular basis for head and neck paraganglioma and provide suggestions for clinical prognosis, screening strategy and genetic counseling. |
| Key words: Hereditary head and neck paraganglioma, SDHx gene, Whole genome sequencing, Genetic variant |
