Doctors have been urged to test patients for a genetic condition that is the most common inherited cause of learning disability, with experts saying there is a lack of awareness around Fragile X.
About one in 250 women and one in 600 men are carriers of the abnormal gene that causes the condition, with female carriers at a higher risk of early menopause.
The syndrome is caused by an alteration to a gene on the X chromosome, which disrupts the production of a protein needed for brain development.
Women with the gene have a 50% chance of passing on the condition to their children, while an affected man will pass the condition on to daughters, but not sons, reports The Independent.
Fragile X syndrome affects about one in 4 000 males and one in 6 000 females, causing a range of developmental issues.
Pete Richardson, managing director of the Fragile X Society in the UK, said carriers of the Fragile X pre-mutation often won’t know they are affected.
People are more likely to be carriers if they have a family history of Fragile X syndrome – or of intellectual disability, developmental delay or autism of unknown cause – as well as infertility problems associated with elevated follicle-stimulating hormone levels or premature ovarian failure.
Women with ovarian insufficiency also have a 2-15% chance of being a Fragile X carrier.
Richardson added: “When a woman shows signs of premature menopause, being a Fragile X carrier is often the last thing that doctors will investigate. But we need to change this. Now.”
According to the Fragile X Society, patients who suspect they may carry the gene can ask medical professionals for a Fragile X (FMR1) DNA test.
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