A semirural Colombian town called Ricaurte, about 150 miles southwest of Bogotá, may be home to the largest recorded genetic cluster of people with mutations linked to fragile X syndrome, according to a new study.
About 1 in every 19 men and 1 in every 46 women in Ricaurte have fragile X syndrome. Men there have 323 times the odds of having the condition compared with the general population, and women 192 times.
The cluster may be the result of a ‘founder effect’ from settlers who established the town in the late 1700s, the researchers say.
“It’s a problem that originated from one of the founders who brought the mutation, and it expanded to other families,” says lead investigator Wilmar Saldarriaga, professor of medical genetics.
Because most of the people with fragile X in Ricaurte are native to the town, their mutations may trace back to a common set of ancestors. Ricaurte is thought to have been founded by 11 families, one from Spain and the rest from other parts of Colombia.
In the meantime, several Ricaurte residents with a premutation show signs of ovarian insufficiency, including early menopause, or of fragile X-associated tremor/ataxia syndrome, such as tremors.
Studying this population may provide insight into why only some people with the premutation develop these features.
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