Ankyrin-B syndrome

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Yang, C. Ankyrin-B syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4749 (accessed on 26 September 2026).

Yang C. Ankyrin-B syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4749. Accessed September 26, 2026.

Yang, Catherine. "Ankyrin-B syndrome" Encyclopedia, https://encyclopedia.pub/entry/4749 (accessed September 26, 2026).

Yang, C. (2020, December 24). Ankyrin-B syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4749

Yang, Catherine. "Ankyrin-B syndrome." Encyclopedia. Web. 24 December, 2020.

Ankyrin-B syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome

Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.

genetic conditions

References

Cunha SR, Hund TJ, Hashemi S, Voigt N, Li N, Wright P, Koval O, Li J,Gudmundsson H, Gumina RJ, Karck M, Schott JJ, Probst V, Le Marec H, Anderson ME, Dobrev D, Wehrens XH, Mohler PJ. Defects in ankyrin-based membrane proteintargeting pathways underlie atrial fibrillation. Circulation. 2011 Sep13;124(11):1212-22. doi: 10.1161/CIRCULATIONAHA.111.023986.
Le Scouarnec S, Bhasin N, Vieyres C, Hund TJ, Cunha SR, Koval O, Marionneau C,Chen B, Wu Y, Demolombe S, Song LS, Le Marec H, Probst V, Schott JJ, Anderson ME,Mohler PJ. Dysfunction in ankyrin-B-dependent ion channel and transportertargeting causes human sinus node disease. Proc Natl Acad Sci U S A. 2008 Oct7;105(40):15617-22. doi: 10.1073/pnas.0805500105.
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, DriskellIM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining thecellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variantsassociated with clinical phenotypes display a spectrum of activities incardiomyocytes. Circulation. 2007 Jan 30;115(4):432-41.
Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, SongLS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H,Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and suddencardiac death. Nature. 2003 Feb 6;421(6923):634-9.
Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, PrioriSG, Keating MT, Bennett V. A cardiac arrhythmia syndrome caused by loss ofankyrin-B function. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42.
Robaei D, Ford T, Ooi SY. Ankyrin-B syndrome: a case of sinus nodedysfunction, atrial fibrillation and prolonged QT in a young adult. Heart LungCirc. 2015 Feb;24(2):e31-4. doi: 10.1016/j.hlc.2014.09.013.
Tester DJ, Ackerman MJ. Genetics of long QT syndrome. Methodist DebakeyCardiovasc J. 2014 Jan-Mar;10(1):29-33. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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