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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Andersen Syndrome / genetics*
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Andersen Syndrome / metabolism
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Andersen Syndrome / physiopathology
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Carbonic Anhydrase Inhibitors / pharmacology
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Child
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DNA Mutational Analysis
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Electrocardiography
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genotype
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Humans
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Male
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Muscle Weakness / genetics
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Muscle Weakness / metabolism
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Muscle Weakness / physiopathology
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Mutation / genetics*
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Paralyses, Familial Periodic / genetics*
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Paralyses, Familial Periodic / metabolism
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Paralyses, Familial Periodic / physiopathology
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Phenotype
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Potassium / pharmacology
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Potassium / therapeutic use
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Potassium Channels, Inwardly Rectifying / genetics*
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Potassium Deficiency / genetics
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Potassium Deficiency / metabolism
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Potassium Deficiency / physiopathology
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Republic of Korea
Substances
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Carbonic Anhydrase Inhibitors
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Genetic Markers
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KCNJ2 protein, human
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Potassium Channels, Inwardly Rectifying
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Potassium