The Autism News | English


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.

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