Andersen‐Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity

References

• Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmen-tal anomalies. A new syndrome? Acta Paediat Scand 1971;60: 559–64.
   Google Scholar
• Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bend-ahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Ander-sen's syndrome. Cell 2001;105: 511–9.
   Google Scholar
• Hubner CA, Jentsch TJ. Ion channel diseases. Hum Mol Genet 2002;11:2435–45.
   Google Scholar
• Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al. Functional and clinical characteriza-tion of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002;110: 381–8.
   Google Scholar
• Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, et al. PIP(2) binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 2003;60: 1811–6.
   Google Scholar
• Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic fea-tures. Ann Neurol 1994;35:326–30.
   Google Scholar
• Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997;42:305–12.
   Google Scholar
• Canun S, Perez N, Beirana LG. Andersen syndrome autosomal dominant in three generations. Am J Med Genet 1999;85:147–56.
   Google Scholar
• Poza JJ, Lopez de Munain A, Garcia-Bragado F, Marti-Masso JF. Andersen syndrome. Description of a case. Neurologia 2000;15:366–9.
   Google Scholar
• Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, et al. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 2002;105:2592–4.
   Google Scholar
• Junker J, Haverkamp W, Schulze-Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurol-ogy 2002;59:466.
   Google Scholar
• Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL, Jr, Benson DW. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002;71: 663–8.
   Google Scholar
• Lucet V, Lupoglazoff JM, Fontaine B. Andersen syndrome, ventricular arrhythmias and channelopathy (a case report). Arch Pediatr 2002;9:1256–9.
   Google Scholar
• Hosaka Y, Hanawa H, Washizuka T, Chinushi M, Yamashita F, Yoshida T, et al. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol 2003;35:409–15.
   Google Scholar
• Djurhuus MS, Klitgaard NA, Jensen BM, Andersen PE, Schroder HD. Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline. Acta Paediatr 1998;87:475–7.
   Google Scholar
• Tawil R, McDermott MP, Brown R, Jr, Shapiro BC, Ptacek LJ, McManis PG, et al. Randomized trials of dichlorphena-mide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol 2000;47:46–53.
   Google Scholar
• Takano M, Kuratomi S. Regulation of cardiac inwardly rectifying potassium channels by membrane lipid metabolism. Prog Biophys Mol Biol 2003;81:67–79.
   Google Scholar
• Hilgemann DW, Feng S, Nasuhoglu C. The complex and intriguing lives of PIP2 with ion channels and transporters. Sci STKE 2001;111:RE19.
   Google Scholar
• Huang CL, Feng S, Hilgemann DW. Direct activation of inward rectifier potassium channels by PIP2 and its stabiliza-tion by Gbetagamma. Nature 1998;391: 803–6.
   Google Scholar
• Zhang H, He C, Yan X, Mirshahi T, Logothetis DE. Activation of inwardly rectifying K+ channels by distinct PtdIns(4,5)P2 interactions. Nat Cell Biol 1999;1: 183–8.
   Google Scholar
• Soom M, Schonherr R, Kubo Y, Kirsch C, Klinger R, Heinemann SH. Multiple PIP2 binding sites in Kir2.1 inwardly rectifying potassium channels. FEBS Lett 2001;490:49–53.
   Google Scholar
• Lopes CM, Zhang H, Rohacs T, Jin T, Yang J, Logothetis DE. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 2002;34:933–44.
   Google Scholar
• Xiao J, Zhen XG, Yang J. Localization of PIP(2) activation gate in inward rectifier K(+) channels. Nat Neurosci 2003;6: 811–8.
   Google Scholar
• Alagem N, Yesylevskyy S, Reuveny E. The pore helix is involved in stabilizing the open state of inwardly rectifying K+ channels. Biophys J 2003;85:300–12.
   Google Scholar
• Choe H, Palmer LG, Sackin H. Structural determinants of gating in inward-rectifier K+ channels. Biophys J 1999; 76: 1988–2003.
   Google Scholar
• Doyle DA, Morais Cabral J, Pfuetzner RA, Kuo A, Gulbis JM, Cohen SL, et al. The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science 1998;280:69–77.
   Google Scholar
• Perozo E, Cortes DM, Cuello LG. Structural rearrangements underlying K-F-channel activation gating. Science 1999; 285: 73–8.
   Google Scholar
• Kuo A, Gulbis JM, Antcliff JF, Rahman T, Lowe ED, Zimmer J, et al. Crystal structure of the potassium channel KirBac1.1 in the closed state. Science 2003;300:1922–6.
   Google Scholar
• Raab-Graham KF, Radeke CM, Vandenberg CA. Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport 1994;5:2501–5.
   Google Scholar
• Lopatin AN, Nichols CG. Inward rectifiers in the heart: an update on I(K1). J Mol Cell Cardiol 2001;33:625–38.
   Google Scholar
• Zaritsky JJ, Redell JB, Tempel BL, Schwarz TL. The conse-quences of disrupting cardiac inwardly rectifying K(+) current (I(K1)) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes. J Physiol 2001;533: 697–710.
   Google Scholar
• Sanguinetti MC, Tristani-Firouzi M. Delayed and inward rectifier potassium channels. In: Zipes DP, Jalife J eds. Cardiac electrophysiology: from cell to bed-side (3rd edition). Philadelphia: WB Saunders Co; 2000:79–86.
   Google Scholar
• Miake J, Marban E, Nuss HB. Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression. J Clin Invest 2003;111: 1529–36.
   Google Scholar
• Miake J, Marban E, Nuss HB. Biological pacemaker created by gene transfer. Nature 2002;419:132–3.
   Google Scholar
• Jongsma HJ, Wilders R. Channelopathies: Kir2.1 mutations jeopardize many cell functions. Curr Biol 2001;11:R747–50.
   Google Scholar
• Preisig-Muller R, Schlichthorl G, Goerge T, Heinen S, Bruggemann A, Rajan S, et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Ander-sen's syndrome. Proc Natl Acad Sci USA 2002;99: 7774–9.
   Google Scholar
• Zobel C, Cho HC, Nguyen TT, Pekhletski R, Diaz RJ, Wilson GJ, et al. Molecular dissection of the inward rectifier potassium current (IK1) in rabbit cardiomyocytes: evidence for heteromeric co-assembly of Kir2.1 and Kir2.2. J Physiol 2003;550:365–72.
   Google Scholar
• Schram G, Melnyk P, Pourrier M, Wang Z, Nattel S. Kir2.4 and Kir2.1 K(+) channel subunits co-assemble: a potential new contributor to inward rectifier current heterogeneity. J Physiol 2002;544: 337–49.
   Google Scholar
• Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003;421:634–9.
   Google Scholar
• Leonoudakis D, Mailliard W, Wingerd K, Clegg D, Vanden-berg C. Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein 5AP97. J Cell Sci 2001; 114: 987–98.
   Google Scholar
• Nehring RB, Wischmeyer E, Doring F, Veh RW, Sheng M, Karschin A. Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family. J Neurosci 2000;20:156–62.
   Google Scholar
• Dart C, Leyland ML. Targeting of an A kinase-anchoring protein, AKAP79, to an inwardly rectifying potassium channel, Kir2.1. J Biol Chem 2001;276:20499–505.
   Google Scholar
• Sampson LJ, Leyland ML, Dart C. Direct interaction between the actin-binding protein filamin-A and the inwardly rectify-ing potassium channel, Kir2.1. J Biol Chem 2003. [E-pub ahead of print].
   Google Scholar
• Olsen O, Liu H, Wade JB, Merot J, Welling PA. Basolateral membrane expression of the Kir 2.3 channel is coordinated by PDZ interaction with Lin-7/CASK complex. Am J Physiol Cell Physiol 2002;282:C183–95.
   Google Scholar
• Colledge M, Dean RA, Scott GK, Langeberg LK, Huganir RL, Scott JD. Targeting of PKA to glutamate receptors through a MAGUK-AKAP complex. Neuron 2000;27:107–19.
   Google Scholar
• Lee S, Fan S, Makarova O, Straight S, Margolis B. A novel and conserved protein-protein interaction domain of mammalian Lin-2/CASK binds and recruits SAP97 to the lateral surface of epithelia. Mol Cell Biol 2002;22: 1778–91.
   Google Scholar
• Laverty HG, Wilson JB. Murine CASK is disrupted in a sex-linked cleft palate mouse mutant. Genomics 1998;53:29–41.
   Google Scholar
• Caruana G, Bernstein A. Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene. Mol Cell Biol 2001;21:1475–83.
   Google Scholar
• Zaritsky JJ, Eckman DM, Wellman GC, Nelson MT, Schwarz TL. Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K(+) current in K(+)-mediated vasodilation. Circ Res 2000;87: 160–6.
   Google Scholar
• Ennis IL, Li RA, Murphy AM, Marban E, Nuss HB. Dual gene therapy with SERCA1 and Kir2.1 abbreviates excitation without suppressing contractility. J Clin Invest 2002; 109: 393–400.
   Google Scholar