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| 1 例 KCNH2 基因突变致长 QT 综合征病例分析 |
| 林舒嘉1,陈顺1,林秋萍1,赵小佩1,徐萌1,贾佳2,肖婷婷1,侯翠兰1,谢利剑1,3 |
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| (1. 上海交通大学医学院附属儿童医 院,上海 200062;2. 上海生物信息技术研究中心,上海 201203;3. 复旦大学附属金山医院,上海 201508) |
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| 摘要: |
| 目的:探讨长 QT 综合征的致病基因及其基因突变与临床表型的相关性。 方法:回顾分析 1 例可疑长 QT 综合征患儿的 临床资料,并利用全外显子测序(WES)筛查可能导致长 QT 综合征的突变。 利用致病性评分、遗传模式及 Sanger 测序验证突 变。 结果:基因检测结果提示患儿存在 KCNH2 基因 c. 3100_3109delGACACGGAGC 杂合突变,各类预测软件提示该突变是有害 突变。 Alphafold 分析提示该突变会导致蛋白质截短。 结论:KCNH2 基因 c. 3100_3109delGACACGGAGC 杂合突变是本例患儿的 致病突变,并且该突变可能影响了 KCNH2 蛋白的稳定性。 |
| 关键词: 长 QT 综合征 KCNH2 突变 全外显子测序 心源性猝死 生物信息学 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2023.12.009 |
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| 基金项目::国家自然科学基金项目,编号 82170518 |
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| A Case of Long QT Syndrome Induced by KCNH2 Mutation |
| Lin Shujia1 , Chen Shun1 , Lin Qiuping1 , Zhao Xiaopei1 , Xu Meng1 , Jia Jia2 , Xiao Tingting1 , Hou Cuilan1 , Xie Lijian |
| (1. Children’ s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200062, China; 2. Shanghai Center for Bioinformation Technology, Shanghai 201203, China; 3. Jinshan Hospital, Fudan University, Shanghai 201508, China) |
| Abstract: |
| Objective: To explore the pathogenic genes of long QT syndrome and the correlation between gene mutation and clinical phenotype. Methods: Clinical data of a child with suspected long QT syndrome were retrospectively analyzed, and whole exome sequencing ( WES) was performed to screen the mutations that could lead to long QT syndrome. Pathogenicity scoring, genetic inheritance patterns and Sanger sequencing were used to validate the identified mutation. Results: Genetic testing revealed the heterozygous mutation in KCNH2 gene c. 3100 _ 3109delGACACGGAGC. Various prediction software indicated that the mutation was deleterious. Alphafold analysis suggested that the mutation could lead to protein truncation. Conclusion: The heterozygous mutation c. 3100 _3109delGACACGGAGC in KCNH2 gene is the pathogenic mutation in the child, which may affect the stability of the KCNH2 protein. |
| Key words: long QT syndrome KCNH2 mutation whole exon sequencing sudden cardiac death bioinformatics |
