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Julia Brown 3/6/13 3rd Period. Other Common Names:. FXS Martin-Bell Syndrome Escalante’s Syndrome. - Fragile X Syndrome is caused by an abnormality in the FMR1 gene, located on the X chromosome. The abnormality is an expansion of that gene. An

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Julia brown 3 6 13 3rd period

Julia Brown

3/6/13

3rd Period


Other common names
Other Common Names:

FXS

Martin-Bell Syndrome

Escalante’s Syndrome


- Fragile X Syndrome is caused by an abnormality in the FMR1 gene, located on the X

chromosome.

The abnormality is an expansion of that gene. An

expansion is when part of the gene is repeated when it

is not supposed to be.

The size of the expansion determines if

the person is only a carrier (meaning they just have the premutation) or if

they show signs of the disorder.


Size of expansion determines how the person is affected
Size of expansion determines how the person is affected gene, located on the X

This represents an X chromosome with a normal fragile X gene (unexpanded - up to 60 repeats is considered normal)

An X chromosome with a small expansion of the fragile X gene (60-200 repeats) A person with this chromosome is a carrier and has the premutation.

This X chromosome has a large expansion (over 200 repeats) and is considered a full mutation.


Since both males and females have an X gene, located on the X

chromosome, either parent can pass this condition

to their children.

However, the gene is usually passed from mother to son.


Target population
Target Population gene, located on the X

If a female has the expansion on the FMR1 gene,

she is less likely to be affected because her 2nd X

chromosome can potentially balance out the

effects of the mutated gene.

If a male has the expanded FMR1 gene, the Y

chromosome has no way to counter any of the

mutation’s effects.

1 in 4,000 males affected

1 in 8,000 females affected


Since the daughters have a 2nd X chromosome, they are less likely to show effects of Fragile X.

Along with being more likely to get it, males are affected more seriously than females are.


The actual cause of the symptoms of fragile X is when the abnormally expanded gene causes it to turn off.

This results in a failure to produce the FMRI1 protien.



Fragile X syndrome mostly affects the central nervous system, as all of the above are affected by it.

People with fragile x often have cognitive disabilites and developmental delays, which all deal with the nervous system.


Symptoms nervous system functions

  • Intellectual disabilities - ranging from mild learning problems to retardation

  • ADHD

  • Anxiety

  • Unstable mood

  • Autism or autistic behaviors

  • hypersensitivity to bright lights or loud sounds

  • Lanugage problems

  • Epilepsy (affects 25% of people with fragile x)

  • Emotional and behavioral problems


Physical Symptoms nervous system functions

  • Long face

  • large ears

  • flat feet

  • low muscle tone

  • hyperextensible joints


Prognosis nervous system functions

It is best if fragile x is diagnosed early on. This way the affected child can receive the proper special care when it comes to education and development.

People with with fragile x are expected to live normal life spans.


Treatments nervous system functions

There are no specific treatments, but rather proper guidance, training, and education can help those affected function as well as possible.



"FRAXA's mission is to accelerate progress toward effective treatments and ultimately a cure for Fragile X, by directly funding the most promising research."

  • Founded in 1994

  • Helps by funding grants at universities

  • Runs mainly on volunteers

  • Work to find a cure and to raise awareness


Fragile x research and treatment center
Fragile X Research and Treatment Center treatments and ultimately a cure for Fragile X, by directly funding the most promising research."

  • At UC Davis and University of Washington in Seattle

  • Funded by the National Institutes of Child Health and Development (NICHD)

  • Studies individuals with fragile x from birth to adulthood


Resources
Resources treatments and ultimately a cure for Fragile X, by directly funding the most promising research."

Fragile x syndrome. (n.d.). Retrieved from

http://www.fragilex.org/fragile-x-associated-

disorders/fragile-x-syndrome/

Fragile x syndrome. (2013, February 25).

¨

Retrieved from http://ghr.nlm.nih.gov/condition/

fragile-x-syndrome

Fragile x syndrome. (2005, July). Retrieved

from http://www.geneticalliance.org.uk/docs/

translations/english/11-fraxt.pdf


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