Understanding Fragile X Syndrome

Understanding Fragile X Syndrome

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Fragile-X Associated Disorders
Information and facts for families, patients and health care providers.
How common is Fragile X?
Fragile X syndrome is the most common inherited cause of intellectual disabilities and the most common known cause of autism. Fragile X affects 1 in 4000 males and 1 in 6000 females. About 1 in 259 women carry fragile X. About 1 in 800 men carry fragile X. Carriers do not show symptoms of Fragile X syndrome, but they may be at risk for related disorders such as Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Primary Ovarian Insufficiency.

What is Fragile-X syndrome?
Most common inherited form of intellectual disability in males.
What is Fragile X-associated primary ovarian insufficiency (FXPOI)?
FXPOI can cause infertility, early menopause and other ovarian problems in women of reproductive age who are Fragile X “carriers.
What is Fragile X-associated tremor/ataxia syndrome (FXTAS )?
FXTAS is an adult onset (over age 50) neurological condition that can cause balance and memory problems, tremors and other neurological and psychiatric symptoms in Fragile X carriers. It is more common in males than females. Like FXPOI, FXTAS is also caused by a Fragile X premutation.

What are genes?
Our bodies are made up of many millions tiny structures called cells. Each cell in the body contains 46 (23 pairs of) chromosomes, which are the structures that hold our genetic information that we call genes, see figure (1). Genes are the genetic material (DNA) necessary for the production of proteins which lead to growth, development and physical and intellectual characteristics. The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes, X and Y, determine whether a person is male or female. Males have only one X chromosome, which is inherited from the mother. They receive a Y chromosome from the father. Females inherit two X chromosomes, one from each parent.

Figure (1): picture illustrates the packaging of our genetic material. Cell, nucleous, chromosome, gene, DNA. Source: http://moodle.rockyview.ab.ca/mod/book/print.php?id=154528
What causes Fragile-X?
Fragile X is caused by a defect in a single gene. This gene, called FMR1 for Fragile X Mental Retardation–1. It was named fragile-X because under the microscope you are able to see the “fragile” site, see Figure (2). In people with Fragile X, a defect in FMR1 (a “full mutation”) shuts the gene down. Like a defective factory, FMR1 cannot manufacture the protein that it normally makes.
The FMR1 gene is located on the long arm of the X chromosome.

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There’s a region of DNA, which varies in length from one person to another. Usually, this stretch of DNA falls within a range of length that would be considered “normal”. In some people, however, this stretch of DNA is somewhat longer; this gene change is a premutation. Although a person who carries the premutation does not typically have symptoms of Fragile X, the stretch of DNA is prone to further expansion when it is passed from a woman to her children.
When the stretch of DNA expands beyond a certain length, the gene is switched off and does not produce the protein that it is normally makes. This gene change is called a “full mutation”. A male who inherits a full mutation exhibits Fragile X syndrome because his only X chromosome contains the mutated gene. A female may not be as severely affected because each cell of her body needs to use only one of its two X chromosomes and randomly inactivates the other.


How is fragile x inherited?
Each child of a carrier woman has a 50% chance of inheriting the mutated gene. A mother who is a carrier of Fragile X has a 50% chance of passing the mutated gene on to each of her children. Those children can in turn also be carriers or they might be fully affected with Fragile X syndrome.
Carrier men will pass the premutation to all their daughters but none of their sons. These daughters are carriers (do not have Fragile X syndrome). The Fragile X premutation can be passed silently down through generations in a family before a child is born with the syndrome.
Repeat numbers of FMR

Normal: 5–44
Intermediate (gray zone): 45–54
Permutation: 55–200 Fragile X-associated primary ovarian insufficiency for women and Fragile X-associated tremor/ataxia syndrome for men.
Full Mutation: >200

How is Fragile X Syndrome diagnosed?

Genetic testing is available to find out whether a person has the premutation or the full mutation. The test is done on a small blood sample. It is also possible to do a test during pregnancy to find out whether a baby may be affected with fragile X syndrome. This kind of test is called prenatal diagnosis.
Where can a family get additional information on fragile X syndrome?
• U.S. Centers for Disease Control and Prevention (CDC): http://www.cdc.gov/
• The National Fragile X Foundation: http://www.fragilex.org/
• FRAXA Research Foundation: http://www.fraxa.org/
• March of Dimes: http://www.marchofdimes.com/baby/fragile-x-syndrome.aspx



Glossary

Cell. The human body is made up of millions of cells, which contain our genetic information. There are many different types of cells and they have different functions.

Chromosomes. Long thin structures that contain our genes. Every cell has 46 chromosomes, two sex chromosomes and 22 other pairs of chromosomes. Half comes from the mother and half from the father.

Epilepsy. Neurological disorder where affected people may have sudden seizures.

Gene. Located ad packed on chromosomes. They are the information needed for the body to function.

Mutation. A change in a gene. Alterations in genes are not always harmful. Some reduce the function and some completely stop the function.



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