title: Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
abstract: Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the distinct clinical features of periodic paralysis, cardiac arrhythmia, and facial and skeletal dysmorphisms and exhibits autosomal dominant inheritance. Mutations in the KCNJ2 gene, which encodes the human inward rectifier potassium channel Kir2.1, have been identified in the majority of cases. Despite well-established clinical and molecular characteristics, treatment is still case oriented, and timely diagnosis could be delayed because of the low incidence and phenotypic heterogeneity of this disease. This article describes the clinical and molecular features of 3 cases of Andersen-Tawil syndrome in 2 families. One of the mutations (G144D) was located in the pore selectivity filter residue (which is mutated recurrently) and was considered novel. Intermittent muscle weakness in childhood warrants careful evaluation of cardiac dysrhythmia and skeletal anomalies.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.forename: Gi Beom
authors.initials: GB
authors.lastname: Kim
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.forename: Chung Il
authors.initials: CI
authors.lastname: Noh
authors.forename: Hee
authors.initials: H
authors.lastname: Hwang
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Ko
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D000293:Adolescent; D050030:Andersen Syndrome / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002257:Carbonic Anhydrase Inhibitors / Q000494:pharmacology; D002648:Child; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010245:Paralyses, Familial Periodic / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D010641:Phenotype; D011188:Potassium / Q000494:pharmacology / Q000627:therapeutic use; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011191:Potassium Deficiency / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D056910:Republic of Korea
chemical_list: D002257:Carbonic Anhydrase Inhibitors; D005819:Genetic Markers; C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying; D011188:Potassium