Frequency
Ankyrin-B syndrome is a rare disorder. Its prevalence is unknown.
Causes
Ankyrin-B syndrome is caused by mutations in the ANK2 gene, which provides instructions for making a protein called ankyrin-B. This protein is active in many cell types, including heart (cardiac) muscle cells. The ankyrin-B protein inserts certain structures called ion channels into their proper locations in the cell membrane. Ion channels are complexes of proteins that transport charged atoms (ions) across cell membranes. In the heart, the flow of ions (such as sodium, potassium, and calcium) through ion channels generates the electrical signals that control the heartbeat and maintain a normal heart rhythm.
Mutations in the ANK2 gene lead to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. The loss of functional ion channels in the heart disrupts the normal flow of ions, which alters the heart's normal rhythm and causes the heart problems associated with ankyrin-B syndrome.
Not everyone with an ANK2 gene mutation has heart problems related to ankyrin-B syndrome. Researchers speculate that other genes or environmental factors may play a role in development of the condition.
Inheritance
Ankyrin-B syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ANK2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Some people who have an altered ANK2 gene never develop heart problems, a situation known as reduced penetrance.
Other Names for This Condition
- Cardiac arrhythmia, ankyrin-B-related
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
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- Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. doi: 10.1073/pnas.0402546101. Epub 2004 Jun 3. Citation on PubMed or Free article on PubMed Central
- Robaei D, Ford T, Ooi SY. Ankyrin-B syndrome: a case of sinus node dysfunction, atrial fibrillation and prolonged QT in a young adult. Heart Lung Circ. 2015 Feb;24(2):e31-4. doi: 10.1016/j.hlc.2014.09.013. Epub 2014 Sep 30. Citation on PubMed
- Tester DJ, Ackerman MJ. Genetics of long QT syndrome. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33. doi: 10.14797/mdcj-10-1-29. Citation on PubMed or Free article on PubMed Central
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