GTR Home > Conditions/Phenotypes > Jervell and Lange-Nielsen syndrome 2

Disease characteristics

Excerpted from the GeneReview: Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually greater than 500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die prior to age 15 years.

Associated genes

  • Also known as: ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK, KCNE1
    Summary: potassium channel, voltage gated subfamily E regulatory beta subunit 1

Clinical features

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  • Sensorineural hearing impairment
  • Syncope
  • Prolonged QT interval

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