SNP Shot: Genomic Insights

Jervell and Lange-Nielsen syndrome (JLNS) is characterized by severe congenital hearing loss and an abnormal heart rhythm (arrhythmia). JLNS is a type of long QT syndrome, a cardiac disorder where the heart muscle takes an extended period to electrically recover between heartbeats. The irregular heartbeats associated with JLNS can lead to fainting spells (syncope) and an elevated risk of sudden cardiac death, often starting in early childhood.

Inheritance:

JLNS follows an autosomal recessive inheritance pattern. This means that for a person to develop the condition, they must inherit two copies of the mutated gene, one from each parent. Typically, the parents of a child with JLNS are unaffected carriers, meaning they each carry one copy of the mutated gene. While some carriers of a KCNQ1 or KCNE1 gene mutation may exhibit a prolonged QT interval and related cardiac issues, their hearing remains normal.