The gene that the mutation occurs in, is the FMR1 Protein. The protein that is being produced by the gene is the Synaptic Function Regulator,
This gene was discovered in 1943, by Martin and Bell. They showed that a particular form of mental retardation (later known as fragile X syndrome) was X-linked. In 1969, Herbert Lubs developed the chromosomal test for Fragile X. The test was not used extensively until the late 1970's. In 1991 the FMR1 gene that causes Fragile X was identified.
In the United States,1 in 151 females, or about 1 million women are affected, and 1 in 468 males are also affected. In the world, the agreed upon prevalence of FXS in males is approximately 1 in 3,600 to 4,000 and in females is approximately 1 in 4,000 to 6,000.
A large number of people in the state of Wisconsin have a change in the FMR1 regulator gene.
The symptoms of Fragile X Syndrome are: intelligence and learning difficulties, narrow faces and large head and forehead, behavioral problems like being afaid and anxious in new situations, and speech and language problems like having a stutter and not being able to speak clearly.
A specific genetic test can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene.
While there is currently no cure for fragile X syndrome (FXS), there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress.
One study of 55 men with FXTAS found that from the time symptoms begin, additional life expectancy ranged from 5 to 25 years.
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.)
This is an exciting time for research in the Fragile X field. Many studies utilizing breakthroughs from the past ten years are now in human trials and the great majority of scientists and clinicians are optimistic that new drugs will prove safe and beneficial. While no one considers the current drugs being studied to be a cure, families with children who have fragile X syndrome can be hopeful that significant improvements in learning, communication and behavior will be possible in the next 2-5 years. Improvements in treatments for FXTAS and FXPOI are also being worked on by many dedicated professionals.
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