1 例 KCNH2 基因突变致长 QT 综合征病例分析

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。

A Case of Long QT Syndrome Induced by KCNH2 Mutation

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.