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What is fragile X syndrome?

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.

Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

How common is fragile X syndrome?

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Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.

What genes are related to fragile X syndrome?

Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called fragile X mental retardation 1 protein, or FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.

Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times. The abnormally expanded CGG segment turns off (silences) the FMR1 gene, which prevents the gene from producing FMRP. Loss or a shortage (deficiency) of this protein disrupts nervous system functions and leads to the signs and symptoms of fragile X syndrome.

Males and females with 55 to 200 repeats of the CGG segment are said to have an FMR1 gene premutation. Most people with a premutation are intellectually normal. In some cases, however, individuals with a premutation have lower than normal amounts of FMRP. As a result, they may have mild versions of the physical features seen in fragile X syndrome (such as prominent ears) and may experience emotional problems such as anxiety or depression. Some children with a premutation may have learning disabilities or autistic-like behavior. The premutation is also associated with an increased risk of disorders called fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS).

Read more about the FMR1 gene.

How do people inherit fragile X syndrome?

Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.

In women, the FMR1 gene premutation on the X chromosome can expand to more than 200 CGG repeats in cells that develop into eggs. This means that women with the premutation have an increased risk of having a child with fragile X syndrome. By contrast, the premutation in men does not expand to more than 200 repeats as it is passed to the next generation. Men pass the premutation only to their daughters. Their sons receive a Y chromosome, which does not include the FMR1 gene.

Where can I find information about diagnosis or management of fragile X syndrome?

These resources address the diagnosis or management of fragile X syndrome and may include treatment providers.

· GeneFacts: Fragile X Syndrome: Diagnosis

· GeneFacts: Fragile X Syndrome: Management

· Gene Review: FMR1-Related Disorders

· Genetic Testing Registry: Fragile X syndrome

· MedlinePlus Encyclopedia: Fragile X syndrome

You might also find information on the diagnosis or management of fragile X syndrome inEducational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about fragile X syndrome?

You may find the following resources about fragile X syndrome helpful. These materials are written for the general public.

· MedlinePlus - Health information (2 links)

· Genetic and Rare Diseases Information Center

- Information about genetic conditions and rare diseases

· Additional NIH Resources - National Institutes of Health (2 links)

· Educational resources - Information pages (13 links)

· Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

· Gene Reviews

- Clinical summary

· Genetic Testing Registry - Repository of genetic test information (1 link)

· ClinicalTrials.gov

- Linking patients to medical research

· PubMed

- Recent literature

· OMIM

- Genetic disorder catalog

What other names do people use for fragile X syndrome?

FRAXA syndrome
fra(X) syndrome
FXS
marker X syndrome
Martin-Bell syndrome
X-linked mental retardation and macroorchidism

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about fragile X syndrome?

Ask the Genetic and Rare Diseases Information Center

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

· What does it mean if a disorder seems to run in my family?

· What are the different ways in which a genetic condition can be inherited?

· If a genetic disorder runs in my family, what are the chances that my children will have the condition?

· Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

· Genetics and Health

· Resources for Patients and Families

· Resources for Health Professionals