Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
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.
Lim
Byung Chan
BC
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Kim
Gi Beom
GB
Bae
Eun Jung
EJ
Noh
Chung Il
CI
Hwang
Hee
H
Kim
Ki Joong
KJ
Hwang
Yong Seung
YS
Ko
Tae Sung
TS
Chae
Jong-Hee
JH
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
D002257:Carbonic Anhydrase Inhibitors; D005819:Genetic Markers; C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying; D011188:Potassium