Jervell and Lange-Nielsen syndrome


Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia).
This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats.

Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.

Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of inner ear structures and cardiac muscle.

All the other genes mentioned are associated with long QT syndromes. The human ether-à-go-go related gene (hERG) is the gene affected by drugs that lengthen QT interval inadvertently; erythromycin, terfenadine, and ketoconazole.

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