KCNN3

Families

Zimmermann-Laband syndrome (ZLS) is a rare genetic disorder that can be caused by an inborn genetic change in one of the following genes: KCNH1, KCNN3, ATP6V1B2. Patients with a mutation in KCNN3 gene have some of the following symptoms: enlarged gums, underdeveloped nails, excessive body hair, typical facial features and may or may not have a degree of developmental delay that could lead to intellectual disability. Seizures may appear. ZLS based on KCNN3 gene mutation is extremely rare, only eight ZLS patients have been reported so far. Inheritance mode in KCNN3 is autosomal dominant, meaning a ZLS patient has 50% chance of passing his mutation to his offsprings.