[Beckwith-Wiedemann syndrome].
Beckwith-Wiedemann syndrome(BWS) is one of the most common overgrowth syndrome and is believed that imprinted genes contribute to the phenotypes of syndrome. Embryonic tumors are observed in 7.5%-10.0% of BWS, so BWS could be classified in one of the familial cancer syndrome. We describe here the causative mechanisms of BWS, mechanisms of tumorigenesis related to the BWS, and what to be uncovered in the next step.
Nagasaki University School of Medicine, Department of Human Genetics.
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Yoshiura
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Niikawa
D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D005799:Genes, Dominant; D016153:Genes, Suppressor; D018392:Genomic Imprinting; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D019656:Loss of Heterozygosity; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated
D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated