Jimmy Jones, 4, living with Fragile X.
Jimmy Jones, 4, living with Fragile X. Contributed

Doctors unite to unravel autism gene

THIRTY-eight-year-old Sydney woman, Simone Zaia, may never be able to have children due to a gene mutation which affects one-in-150 Australian women - many of whom are unaware they have the condition.

Ms Zaia is a premutation carrier of the Fragile X gene that, through successive generations, can lead to Fragile X Syndrome – the world’s leading inherited cause of intellectual disability and autism and a condition which may rise alarmingly without better awareness and intervention.

Leading researchers are uniting this month – Fragile X Awareness Month – in a world-first endeavour to better understand the whole spectrum of Fragile X – a gene mutation of the X chromosome which can cause an array of mild-to-severe physical and intellectual disabilities and behaviours.

According to Associate Professor Julian Trollor, Chair, Intellectual Disability Mental Health and Head, Department of Developmental Disability Neuropsychiatry, University of New South Wales, while premutation carriers of the Fragile X gene were previously thought to have no symptoms, recent research reveals they can be significantly affected by the condition.

“While we have known for some time that carriers pass the gene onto their children and future generations, resulting in Fragile X Syndrome, little is known about the effects of the premutation Fragile X gene. Some female carriers may experience ovarian insufficiency, which can cause irregular menstrual cycles, infertility and early menopause,” A/Prof Trollor said.

“Older, male and female carriers may develop Fragile X Tremor Ataxia Syndrome (FXTAS), which is a condition affecting balance, tremor and memory, and is often misdiagnosed as Parkinson’s or dementia. The devastating reality of premutation of the Fragile X gene is that little is known about the mutation and why only some carriers are affected and not others.”

Researchers from Monash University and University of New South Wales are hoping to improve their understanding of the characteristics of late-onset Fragile X Syndrome and FXTAS in men by performing detailed health, balance and memory tests on middle-aged and elderly men over the age of 40 who have been diagnosed as premutation carriers of the Fragile X gene.

“We are teaming with renowned researchers from Monash University in Melbourne to perform world-leading research examining the spectrum of the fragile X premutation,” said A/Prof Trollor.

“We hope that by increasing our understanding of the genetic mutation it will improve community awareness about the physical, mental and emotional effects in premutation carriers of the Fragile X gene.”

Premutation carrier and coordinator of Sydney-based Fragile X support service, Ms Zaia said this research offers hope to her and the thousands of Australians carrying the affected gene.

Ms Zaia discovered she was a premutation carrier of the Fragile X gene three years ago after her cousin’s son was diagnosed with an intellectual disability. While she is currently trying to conceive, it is proving to be a difficult process that requires testing of the embryos to ensure the foetus does not inherit the gene.

“I have tried in vitro fertilisation (IVF) seven times, but sadly, each attempt has proven unsuccessful. It’s devastating to think I may not be able to have children because I am a premutation carrier.”

Ms Zaia said Fragile X Awareness Month represents an opportunity to educate people about the relatively unknown condition.

“After diagnosis, I was disappointed with the lack of public awareness of the condition and preventative measures offered by the health sector,” Ms Zaia said. 

“If I had known I was a carrier earlier, I could have explored further options for conception.

“Understanding the Fragile X premutation will provide greater insights into the treatment and management of people affected by the whole spectrum of the condition.                      

While there is no cure for the Fragile X premutation, there is a range of treatment and management strategies which can help people to not only deal with the diagnosis, but to live a normal life.
One-in-150 women are premutation carriers of the Fragile X gene. However, global estimates suggest that 50 per cent of people living with the gene premutation have not been correctly diagnosed. Twenty-five per cent of female carriers experience early menopause -some as early as their early-twenties – and are at a higher risk of early-onset osteoporosis.

Children born to female carriers have a one-in-two chance of inheriting the gene. While carriers of the gene may not exhibit any symptoms until middle-age, the chances of inheriting a mental or developmental disorder increases with each generation.

“Because Fragile X is passed on genetically, women who have a family history of early menopause or intellectual disability should request a genetic test for the syndrome from their GP,” Ms Zaia said.

“We should be arming female Fragile X premutation carriers who want to have children with the knowledge to make an informed choice when it comes to conceiving.”

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