News of the WeekHuman Genetics

Gene Defect Linked to Rett Syndrome

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Science  01 Oct 1999:
Vol. 286, Issue 5437, pp. 27
DOI: 10.1126/science.286.5437.27

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Researchers may have tracked down the gene at fault in Rett syndrome, which afflicts at least one in 10,000 girls and is second only to Down syndrome as a cause of female retardation. In the October issue of Nature Genetics, geneticists report that mutations in a gene called MeCP2 cause nearly a third of the Rett syndrome cases they studied. The researchers do not yet know why mutations in the gene, which encodes a protein that helps "silence," or shut down, other genes that have been tagged with a methyl group during development, cause the defects of Rett syndrome. But the group is the first to link a human disease to a defect in gene silencing.