A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome

Journal of Human Genetics
Hoi-Fong ChanRuey-Meei Wu

Abstract

Andersen-Tawil syndrome (ATS) is a rare familial potassium channelopathy characterized by the clinical triad of periodic paralysis, cardiac arrhythmia and dysmorphic facial/skeletal features. The majority of ATS patients are caused by mutations of the KCNJ2 gene, which encodes the inward-rectifying potassium channel protein Kir2.1. However, the effects of the KCNJ2 mutation on the central nervous system are rarely studied. In this report, we describe a heterozygous missense mutation (p.Thr192Ile) in the KCNJ2 gene, which segregates with the disease phenotype in an ATS family. It is noted that in addition to the classical clinical phenotypes of ATS, the index patient exhibited major depression and pyramidal tract signs with diffuse periventricular white matter lesions without contrast enhancement. This mutation and the unusual clinical manifestations observed underscore the phenotypic complexity underlying ATS. Our observations expand the current knowledge of the phenotypic variability of ATS caused by the KCNJ2 mutation. Patients with ATS, especially those carrying the KCNJ2 mutations, should be monitored for their potential neuropsychiatric system involvement.

References

Sep 19, 2002·Glia·Wolfgang Walz
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Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Valeria Sansone, Rabi Tawil

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Citations

Nov 16, 2011·Current Neurology and Neuroscience Reports·James A Burge, Michael G Hanna
Jan 7, 2016·International Journal of Cardiology·M Reyes VillatoroPedro Iturralde
Aug 25, 2015·Progress in Neuro-psychopharmacology & Biological Psychiatry·Chiara Fabbri, Alessandro Serretti
Apr 12, 2016·Frontiers in Cellular Neuroscience·Chiara Villa, Romina Combi
Jan 3, 2014·International Journal of Cardiology·Hoai-Linh NguyenRonald Wilders
Aug 20, 2016·Channels·Shuxi RenHailong An
Aug 9, 2020·Proceedings of the National Academy of Sciences of the United States of America·Osama F HarrazMark T Nelson
Aug 28, 2020·BMJ Case Reports·Margarita E PolyakElena Zaklyazminskaya

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