25 January 2018

Take 2: The link between Fragile X and POI

Clinical Women

Around 2% of women with premature ovarian insufficiency have a pre-mutation for Fragile X.

The pre-mutations of the FMR1 gene affect about 1 in 150 women, says Professor Rod Baber, a gynaecologist and obstetrician at The University of Sydney.

Around 25% of women with these pre-mutations will go through premature ovarian insufficiency, he says.

All women who have an early menopause should be screened for the FMR1 gene pre-mutations.

“And if they have it, they can seek appropriate genetic counselling about how to avoid having a child born with the same genetic abnormality,” says Professor Baber.

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2 Comments on "Take 2: The link between Fragile X and POI"

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Chris
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28 days 1 hour ago

“All women who have an early menopause should be screened for the FMR1 gene pre-mutations.” “And if they have it, they can seek appropriate genetic counselling about how to avoid having a child born with the same genetic abnormality,” says Professor Baber.

I think I know what he means but there aren’t that many children born after menopause are there?

Rachael
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Rachael
28 days 35 minutes ago
Hi Chris, I think the key message is to screen in women with ovarian insufficiency due to the increased rates of POI and early menopause. This allows women to make informed decisions about the reproductive risk, including having a child with a premutation or full mutation expansion (the latter being a cause of intellectual disability). Screening in women even after menopause is also worthwhile as there are other health risks associated with the premutation, including fragile x associated tremor ataxia syndrome. It will also allow other blood-related family members to choose whether they would like to be tested as well.… Read more »
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