Home > Encyclopedia of Genetic Disorders > Jervell and Lange-Nielsen syndrome

Definition

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by congenital deafness and cardiac arrhythmias (irregularities in the electrical activity of the heart that can lead to cardiac arrest and sudden death).

Description

JLNS results from mutations, or changes, in either one of two genes that encode proteins that combine to form potassium ion channels. One of the potassium channels is important for proper heart function. It is also critical in the functioning of the cochlea of the inner ear. People with JLNS lack this channel and, thus, are born with profound deafness in both ears, as well as with cardiac abnormalities.

JLNS was first described in 1957 by A. Jervell and F. Lange-Nielsen. It is also known by the names cardio-auditory syndrome of...