Take 2: The link between Fragile X and POI

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Clinical Women

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Staff Writers

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

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.

[media_embed]https://player.vimeo.com/video/223243164[/media_embed]

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Chris
Chris
6 years 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?

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Rachael
Rachael
Reply to  Chris
6 years 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. Aside from the personal health implications, a woman with the premutation will have a 50/50 chance of passing the expansion on to her children (either as a pre- or full mutation) and any male carriers of the premutation will pass this on to all of their daughters and none of their sons. For some families the expansion is insidiously passed through families so having opportunities for early identification is critical so that people are able to make informed decisions about their personal and reproductive health.

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