Andersen's Syndrome: a Single or Multiple Gene Channelopathy?
نویسندگان
چکیده
We studied and performed genetic linkage studies and mutational analysis on 1 1 patients from 5 unrelated kindreds with Andersen's syndrome (AS). Our data suggest AS is a distinct periodic paralysis occurring in the setting of either hyperor hypokalemia, with severe cardiac involvement (LQT) and distinct skeletal abnormalities whose gene defect is still unknown.
منابع مشابه
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.
Andersen's syndrome is a rare disorder that has been defined with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness has been reported in two-thirds of the patients. KCNJ2 remains the only gene linked to Andersen's syndrome; this gene encodes for the alpha-subunit of the strong inward-rectifier K+ channel Kir2.1. Several studies have shown that Andersen'...
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Periodic paralysis, cardiac arrhythmia and bone features are the hallmark of Andersen's syndrome (AS), a rare disorder caused by mutations in the KCNJ2 gene that encodes for the inward rectifier K(+)-channel Kir2.1. Rest following strenuous physical activity, carbohydrate ingestion, emotional stress and exposure to cold are the precipitating triggers. Most of the mutations act in a dominant-neg...
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Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome 17q23 near the inward rectifying potassium channel gene KCNJ2. A missense mutation in KCNJ2 (encoding D71V) was identified in the linked family. Eight additional mutations were identified in unrelated patients. Expression of two of these muta...
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