Fragile X Syndrome

Sorry, no news articles match your request. Your search criteria may be too narrow.

Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known single-gene cause of autism and the most common inherited cause of intellectual disability. It results in a spectrum of intellectual disability ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and larger testes (macroorchidism), behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.

Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome). A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counselling.

There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and aggression. Supportive management is important in optimising functioning in individuals with fragile X syndrome, and may involve speech therapy, occupational therapy, and individualised educational and behavioural programs.

J. Purdon Martin and Julia Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Herbert Lubs first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

Cohabiting couples differ on contraceptive use by class

Most cohabiting couples intend to delay childbirth until they're married, steadily employed and financially stable. Despite these preferences, surprise pregnancies are common, particularly among working-class men and women ...

Gut bacteria promote obesity in mice

A species of gut bacteria called Clostridium ramosum, coupled with a high-fat diet, may cause animals to gain weight. The work is published this week in mBio, the online open-access journal of the American Society for Microbiol ...

Researchers explain 38-year-old mystery of the heart

In a new study published in Proceedings of the National Academy of Sciences, researchers at the University of Alberta's Faculty of Medicine & Dentistry have explained how the function of a key protein in the ...

Modeling shockwaves through the brain

Since the start of the military conflicts in Iraq and Afghanistan, more than 300,000 soldiers have returned to the United States with traumatic brain injury caused by exposure to bomb blasts—and in particular, ...