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A fragile existence

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Science  12 Oct 2018:
Vol. 362, Issue 6411, pp. 172-175
DOI: 10.1126/science.362.6411.172

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Summary

The small town of Ricaurte, Colombia, is home to the world's largest known cluster of people with fragile X syndrome, a genetic condition that causes intellectual disability, physical abnormalities, and often autism. Now, the town, where at least 5% of residents carry either the full-blown fragile X mutation or the less severe "premutations," is becoming a focal point for studies of the condition. What the researchers learn could have global implications. Caused by mutations in a gene on the X chromosome, fragile X syndrome affects as many as one in 2000 men and one in 4000 women worldwide. And as a single-gene cause of autism—a recalcitrantly complex condition—fragile X has been the focus of efforts to develop drugs for autism. The studies in Ricaurte might also help explain why premutation carriers, who usually escape cognitive problems, sometimes develop physical symptoms, including tremors and fertility problems.

  • * This story was produced in collaboration with Spectrum (spectrumnews.org), where Hannah Furfaro is a staff reporter.