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.

Other Names

 * Cardio-auditory-syncope syndrome
 * Cardioauditory syndrome of Jervell and Lange-Nielsen
 * Jervell-Lange Nielsen Syndrome
 * JLNS
 * Surdo-cardiac syndrome

Causes
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.

About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene; KCNE1 mutations are responsible for the remaining cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome

Chances of Developing
Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people.

Genetics
Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome.

Heredity
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have signs and symptoms affecting the heart, but their hearing is usually normal.

Other Resources

 * Educational resources
 * Patient support.
 * MedlinePlus - Health information (4 links)
 * Additional NIH Resources - National Institutes of Health (2 links)
 * Educational resources - Information pages (11 links)
 * Patient support - For patients and families (9 links)
 * Gene Reviews[[Image:offsiteico.gif|This link leads to a site outside Genetics Home Reference.]] - Clinical summary
 * Gene Tests - DNA tests ordered by healthcare professionals (2 links)
 * ACTion Sheets - Newborn screening follow up (1 link)
 * ClinicalTrials.gov[[Image:offsiteico.gif|This link leads to a site outside Genetics Home Reference.]] - Linking patients to medical research
 * PubMed[[Image:offsiteico.gif|This link leads to a site outside Genetics Home Reference.]] - Recent literature
 * OMIM[[Image:offsiteico.gif|This link leads to a site outside Genetics Home Reference.]] - Genetic disorder catalog