The Fragile X Premutation

Traditionally, a carrier of a genetic condition is defined as a person who inherits an altered form of a gene but is asymptomatic or not at risk for nor has symptoms of the condition. However, in Fragile X this is different. Individuals with the Fragile X premutation may be at risk to develop Fragile X-associated conditions and disorders including Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI). Additional conditions associated with the Fragile X premutation are being further researched.

Webinars

  • Brenda Finucane speaking on the genetics of Fragile X disorders.

The Genetics of Fragile X Disorders

By |Apr 28, 2021|

Many thanks to Brenda Finucane for this webinar to help each of us understand the genetics of Fragile X. Brenda is a professor and licensed genetic counselor at Geisinger’s Autism and Developmental Medicine Institute in Lewisburg, PA.

Women’s Health & the Fragile X Premutation

Download the 29-page ebook for information on the health concerns women with the Fragile X premutation need to be aware of, including genetics and inheritance, FXPOI, FXTAS, family planning, and more.

Download Women’s Health & the Fragile X Premutation.

Women's Health and the Fragile X Premutation ebook download.

From Our Blog

What Defines a Carrier?

By |Jun 26, 2013|

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. Male premutation carriers, because they have only one X chromosome, are much more commonly affected by FXTAS than are female carriers.

FXAND: What Is It and What Might It Mean to You?

Research is currently underway looking at various issues that may be seen in people with the premutation.

Here we present a paper by Dr. Randi Hagerman, medical director and developmental pediatrician at the UC Davis MIND Institute in California, and well-known in the worldwide Fragile X community for her pioneering work in Fragile X syndrome (FXS) and Fragile X-associated tremor ataxia syndrome (FXTAS). For many years, Dr. Hagerman has believed that carriers of a Fragile X premutation are at risk for a variety of mental health and medical problems due to the premutation itself. This paper is one of her first attempts to describe what she and her colleagues believe to be the scientific basis for those problems.

Read Fragile X-Associated Neuropsychiatric Disorders (FXAND).

Research Results

  • brain blueprint

Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation

By |Dec 17, 2020|

Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.

General Anesthetic Use in Fragile X Spectrum Disorders

This is a topic we get a lot of questions about. This paper reports on two cases of premutation carriers with FXTAS who have experienced progression of their motor or cognitive problems after general anesthesia. Because of their molecular profile, it’s suggested that this group of patients may be at high risk for central nervous system dysfunction after anesthesia.

Read General Anesthetic Use in Fragile X Spectrum Disorders

More

Premutation Carriers
An introduction to premutation carriers, prevalence, and issues for males and females.

Be a part of the solution.

Learn more about the INTERNATIONAL FRAGILE X PREMUTATION REGISTRY and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.

LEARN MORE
International Fragile X Premutation Registry
International Fragile X Premutation Registry

Be a part of the solution.

Learn more about the International Fragile X Premutation Registry and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.

LEARN MORE