Fragile X Info Series
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Females and
Fragile X

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overview

Fragile X is a group of conditions associated with changes in the Fragile X gene — called FMRl — located on the X chromosome. The FMRl gene can undergo changes, when inherited, which affects a pattern of DNA called CGG repeats. Typically, the FMRl gene has up to 54 CGG repeats. The range of 45–54 repeats is called the intermediate or “gray zone.” A premutation carrier has 55–200 CGG repeats, and someone with a full mutation has more than 200 CGG repeats.

When a premutation or full mutation is present, it can result in a Fragile X-associated disorder (FXD). These include:

FXS

FRAGILE X SYNDROME

FXS is a condition affecting intellectual, behavioral, and social development. It occurs in both males and females who have a full mutation of the FMRl gene.

FXTAS

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

FXTAS is an adult onset (over 50 years of age) neurological condition, seen in males and females, but more common and more severe in some male premutation carriers. It can cause tremors, memory, and balance issues.

FXPOI

FRAGILE X-ASSOCIATED PRIMARY OVARIAN INSUFFICIENCY

FXPOI is a condition affecting ovarian function that can lead to infertility and early menopause in some female premutation carriers.

FEMALES AND FRAGILE X

Genetic counseling is recommended for any woman with a Fragile X premutation or full mutation. This can allow for discussion of pregnancy issues, reproductive options including prenatal testing, use of egg donor or IVF, and other options.

Testing to determine whether a full mutation or premutation exists is recommended for any adult woman who may be at risk to be a premutation carrier. This includes women with a personal or family history of intellectual disability, FXS, FXTAS, or infertility.

OTHER PREMUTATION CONDITIONS

Other issues may be present in premutation carriers, and this is an ongoing area of study for researchers.

Females With a Full Mutation

Females with a full mutation exhibit a wide range of characteristics, though they usually have milder symptoms than males with a full mutation, and may not even know their status. This is because females have two X chromosomes (males have only one), and the unaffected X chromosome can often compensate to varying degrees for the one with the Fragile X mutation.

Women with a full mutation are not at risk for FXPOI and have no associated infertility.

PHYSICAL CHARACTERISTICS

Girls are much less likely than boys to exhibit physical characteristics of Fragile X. Many have no noticeable physical differences. Of those who do, the most common features are:

  • Slightly prominent ears
  • Highly flexible finger joints, wrists, or elbows
  • Flat feet

COGNITIVE CHARACTERISTICS

Females with a full mutation range from having very mild to moderate learning difficulties. The most common challenges are in:

  • Visual-spatial abilities like reading maps and graphs
  • Executive functioning (the ability to formulate, execute, and carry out a plan)
  • Mathematics

BEHAVIORAL CHARACTERISTICS

Females with a full mutation can exhibit behavioral or social challenges that include:

  • Attention/concentration difficulties (or ADHD)
  • Shyness or social anxiety
  • Difficulty in picking up on “social cues”

EMOTIONAL ISSUES

Females with a full mutation are at increased risk to experience anxiety.

Mood swings and depression may be present — often most acutely during adolescence. Medication, counseling, and other interventions may help address these issues.

Consultations with family physicians and experts with experience in FXDs can be important in obtaining the assistance a person needs.

A small percentage of females who have the full mutation will have no apparent signs of the condition — physical, cognitive, behavioral, or emotional. These females are often identified only after another family member has been diagnosed.

Two females holding up their hands in a peace sign, one with her arm around the other

Females with Premutation

Females with a premutation are at risk to have a child, male or female, with Fragile X syndrome. The magnitude of this risk is related to the number of CGG repeats identified in her FMRl gene. The larger the number, the higher the risk for expansion from a premutation to a full mutation if it is passed on.

Some women with a premutation have reported increased general anxiety, shyness, and social anxiety. In addition, there is evidence that women with the premutation are at increased risk for depression.

FXPOI

Approximately 20%-25% of women with a premutation experience FXPOI, which is characterized by infertility, decreased ovarian function, early menopause, or irregular cycles. (Note: Women with a full mutation are not at risk for FXPOI and have no associated infertility.)

FXTAS

FXTAS is another medical effect of the premutation. It is more common in male carriers, but has been reported in about 5%-8% of female carriers over the age of 50.

Dr. Marcia Braden and three other women all wearing lanyards

The Unique Challenges for Females with Fragile X Syndrome

By Marcia Braden

The more we learn, the more effective our interventions and support structures become in assisting them to live personally fulfilling lives.

UNIQUE CHALLENGES FOR FEMALES
CGAT wheel

What Defines a Carrier?

By Brenda Finucane

Why is there so much variability among male and female Fragile X carriers? There are a number of factors involved. Because the Fragile X gene is X-linked, gender plays a big role in determining who might show symptoms.

WHAT DEFINES A CARRIER?
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INFO SERIES
Females and Fragile X

Characteristics of females with full mutation and premutation Fragile X.

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How We Can Help

The National Fragile X Foundation offers help for today and hope for tomorrow with personalized support, community, education, awareness, advocacy, and research.

If you have specific questions about what to expect, treatments, clinics … well, just about anything, please email us at treatment@fragilex.org or call (800) 688-8765.

More from the Fragile X Info Series
VIEW ALL
Fragile X Info Series: Fragile X Syndrome: An Overview for Families and Providers
Fragile X Info Series: Fragile X Syndrome: For Kids of All Ages
Fragile X Info Series: Newly Diagnosed
Fragile X Info Series: Your In-Person Visit to a Fragile X Clinic
Fragile X Info Series: Testing
Fragile X Info Series: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X Info Series: Fragile X-Associated Primary Ovarian Insufficiency
Fragile X Info Series: Siblings
Fragile X Info Series: Adult Housing
Fragile X Info Series: Adult Living — Volunteering, Day Programs & Employment

THANK YOU
Genetics chart image by OpenClipart-Vectors from Pixabay