Fragile-X+Syndrome

Bill Boss wmx22@wildcats.unh.edu University of New Hampshire - Manchester Class of 2013

__What is Fragile-X Syndrome?__
Fragile X Syndrome (FXS) is a disorder in which the afflicted organism suffers from impaired intellect and mental processes and is a form of mental retardation. This syndrome can lead to learning difficulties, mental retardation, mood swings and autism. Fragile X Syndrome is an X linked disorder, and as such much more drastically affects men than women. It is usually passed down from carrier females to their sons, as afflicted males cannot pass it down to their sons but can pass it to their daughters. The disease is generally diagnosed at early stages of life at around age 3. The diagnosis begins to become clear when the child has impaired motor skills, flaps their hands and arms constantly, has mood swings/irritability, and very slow speech growth along with learning impairment. Physical symptoms of the disorder can be seen in the face and head structure or other parts of the body; Those that have Fragile-X Syndrome typically have broad foreheads with large everted ears, thickened nasal bridges, prominent jaws, extended or thin faces, and males may have macroorchidism.

__ An example of the general features exhibited by a Fragile-X Syndrome expressing individual: __



__What gene is responsible, and where is it located?__
Fragile-X Syndrome is caused by the FMR1 gene, which is located on the X chromosome.



__Research Questions:__
How does Fragile-X become expressed? Fragile-X; Does Severity Differ Based Upon Gender? Fragile-X Genomics Data References
 * 1) Which gene is involved?
 * 2) How is this disorder created?
 * 3) Are there gender differences in regards severity of the condition?
 * 4) Is the responsible gene/gene mutations present across species, if so how closely are the genes related to humans?