What type of inheritance pattern does Jervell and Lange-Nielsen Syndrome follow?

Jervell and Lange-Nielsen Syndrome follows an autosomal recessive inheritance pattern. This means that for an individual to express the condition, they must inherit two copies of the mutated gene, one from each parent. The disorder is associated with mutations in genes responsible for cardiac ion channels, particularly those affecting potassium currents that can lead to congenital long QT syndrome, which is characterized by an increased risk for arrhythmias.

The autosomal recessive nature of the syndrome also explains why it may not be seen in every generation, as carriers (individuals with one copy of the mutated gene) do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers have a child, there is a 25% chance the child will inherit two copies of the mutated gene and manifest the syndrome. This inheritance pattern is essential for understanding genetic counseling strategies for affected families, as it influences both risk assessment and testing options for relatives.