Understanding Fragile X

Fragile X-associated Disorders are a family of inherited conditions caused by alterations (expansions) in the FMR1 gene (Fragile X gene) which is located on the X chromosome. These disorders include a wide range of physical, intellectual and behavioural symptoms that can affect family members in different ways.

It is estimated that about 90,000 people in Australia are impacted by Fragile X in some way – as carriers of Fragile X, or with Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome is the leading cause of inherited intellectual disability, affecting about 1 in 4,000 males and about 1 in 6,000 females.

Both males and females can be carriers of the Fragile X gene alteration, and are called premutation carriers. About 1 in 250 women and 1 in 800 men are Fragile X premutation carriers.

Conditions associated with being Fragile X Premutation Carriers include:

  • Fragile X-associated Tremor Ataxia syndrome (FXTAS): A neurological condition with symptoms including shaking (intention tremor), unsteadiness (ataxia) and memory problems. FXTAS is often misdiagnosed as Parkinson’s disease
  • Fragile X-associated Primary Ovarian Insufficiency (FXPOI): Which can lead to fertility problems and early menopause
  • Fragile X-associated Neuropsychiatric Disorders (FXAND): A term to describe a range of physical and psychological issues some carriers may experience

How is Fragile X passed on in families?

With each pregnancy, female premutation carriers have a 50% chance of passing on the Fragile X gene change either as a premutation or a full mutation to a child of either sex.

Learn More

What are CGG Repeats?

Fragile X-associated conditions are caused by a lengthening (expansion) in the FMR1 gene on the X chromosome.

Learn More

Testing and Screening for Fragile X

As Fragile X is an inherited genetic condition, if a person finds out they have the premutation or full mutation other family members may also be carriers and/or may have a Fragile X associated condition.

Learn More

Is Fragile X testing covered by Medicare?

Fragile X DNA testing is funded by Medicare under 2 conditions.

Learn More

Fragile X Premutation Carriers

A carrier has an altered form of a gene that can lead to having a child or grandchild with a genetic disorder.

Learn More

Genetic Counselling

Genetic counsellors have specialist knowledge in human genetics, counselling and health communication skills.

Learn More

Family Support Counselling

Fragile X Association of Australia offers support to people Australia-wide who are affected by Fragile X, and their families and caregivers.

Learn More


To learn more:

Understanding Fragile X

Videos produced by Fragile X Association of Australia

Fragile X 101, National Fragile X Foundation

(US) Website

Share:
Menu
Menu
Menu
Menu

We're fundraising for our Family Support service!

The spectacular Bridge to Beach paddle race raises funds to help us support, connect and advocate for families around Australia! You can make a difference for the Fragile X community by making a donation to our Bridge to Beach campaign today! Donations of $2.00 and over are tax deductible.

Fragile X Logo