Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome

Pediatric Neurology
June-Bum Kim, Ki-Wha Chung

Abstract

Andersen-Tawil syndrome is a rare autosomal-dominant disease characterized by episodic muscle weakness, cardiac arrhythmias, and dysmorphic features. Mutations in the KCNJ2 gene (which encodes an inward-rectifying potassium channel protein, Kir2.1) have been reported to be responsible for this disorder. Reported here is a novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome. This mutation predicts the substitution of alanine for glycine at position 146 (Gly146Ala, c.437G > C) of Kir2.1 and is located at the extracellular pore loop region that serves as a principal ion-selective filter. The patient did not respond to acetazolamide, but experienced an improvement of the paralytic symptoms on treatment with a combination of spironolactone, amiloride, and potassium supplements.

References

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Nov 1, 2006·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Martin Tristani-Firouzi

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Citations

Nov 16, 2011·Current Neurology and Neuroscience Reports·James A Burge, Michael G Hanna
Mar 30, 2011·Rheumatic Diseases Clinics of North America·Andrew Gomez-Vargas, Steven K Baker
Aug 29, 2012·Muscle & Nerve·Young-Wha SongJune-Bum Kim
Jan 3, 2014·International Journal of Cardiology·Hoai-Linh NguyenRonald Wilders
Sep 19, 2020·Cardiology in Review·Andrés Ricardo Pérez-RieraPedro Brugada

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