Objective:

To report a case of a 16-year-old girl with early-onset malignant LQT2 associated with the KCNH2 p.D501N mutation and to elucidate the molecular pathogenic mechanism of this mutation through whole-exome sequencing and bioinformatics analysis.

Approach:

Key Findings:

• The proband presented with a prolonged QT interval, TdP, VT, and VF.
• The KCNH2 p.D501N mutation is predicted to be deleterious and alters the secondary structure of the Kv11.1 protein, increasing alpha helices and decreasing random coil.
• The mutation leads to significant changes in the physicochemical properties of the Kv11.1 protein, potentially impairing cardiac IKr current.

Interpretation:

The KCNH2 p.D501N mutation significantly alters the structure and properties of the Kv11.1 protein.

Limitations:

• The study is based on a single case report, limiting generalizability.
• Long-term clinical follow-up data may not be representative of broader populations.

Conclusion:

The findings suggest that the KCNH2 p.D501N mutation is associated with early-onset malignant LQT2.

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