Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families

Journal of Human Genetics

Volumn 52, Issue 3, 2007, Pages 280-283

  Choi, Byung Ok ^a   Kim, Joonki ^c   Suh, Bum Chun ^b   Yu, Jin Seok ^c   Sunwoo, Il Nam ^b   Kim, Song Ja ^c   Kim, Gwang Hoon ^c   Chung, Ki Wha ^c  

^a Ewha Womans University School of Medicine   (South Korea)

^b Yonsei University   (South Korea)

^c Kongju National University   (South Korea)

Author keywords

Andersen Tawil syndrome (ATS); KCNJ2; Kir2.1; Korea; Mutation

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE;

ADOLESCENT; ADULT; ANAMNESIS; ANDERSEN SYNDROME; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ELECTROCARDIOGRAPHY; FACE DYSMORPHIA; FAMILY HISTORY; FAMILY STUDY; GENETIC SCREENING; HUMAN; KOREA; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE CONDUCTION; PROTEIN DOMAIN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANDERSEN SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FACE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 33847248901     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0100-7     Document Type: Article

References (14)

1. Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M (2002) Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 105:2592-2594
2. Andersen ED, Krasilnikoff PA, Overvad H (1971) Intermittent muscular weakness, extra systoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 60:559-564
3. Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptacek LJ (2003) Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem 278:51779-51785
4. Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, et al (2005) Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 65:1083-1089
5. 2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 60:1811-1816
6. 2 and its stabilization by Gbetagamma. Nature 391:803-806
7. Jongsma HJ, Wilders R (2001) Channelopathies: Kir2.1 mutations jeopardize many cell functions. Curr Biol 11:R747-R750
8. Lopes CM, Zhang H, Rohacs T, Jin T, Yang J, Logothetis DE (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 34:933-944
9. Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, et al (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105:511-519
10. Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, et al (1997) Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 42:305-312
11. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC (1994) Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 35:326-330
12. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110:381-388
13. Yang J, Jan YN, Jan LY (1995) Determination of the subunit stoichiometry of an inwardly rectifying potassium channel. Neuron 15:1441-1447
14. 2 interactions. Nat Cell Biol 1:183-188