Understanding Fragile X Syndrome
Fragile X-associated Conditions 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 conditions 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 (FMR1) 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 (FMR1) gene change either as a premutation or a full mutation to a child of either sex.
What are CGG Repeats?
Fragile X-associated conditions are caused by a lengthening (expansion) in the FMR1 gene on the X chromosome.
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.
Is Fragile X testing covered by Medicare?
Fragile X DNA testing is funded by Medicare under 2 conditions.
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.
Genetic Counselling
Genetic counsellors have specialist knowledge in human genetics, counselling and health communication skills.
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.
To learn more:
Videos produced by Fragile X Association of Australia
Fragile X 101, National Fragile X Foundation
(US) Website
