Fragile X syndrome

By: William McDonald

Brief summary

Fragile X Syndrome is a rare genetic condition with less than 200,000 cases per year in the united states. Fragile X Syndrome affects 1 in 4,000 males per year and 1 in 8,000 females per year. there are not many famous people with this genetic condition as they have mild to severe mental retardation andnormally have social anxiety, but Mary Jane Clark's (a mystery writer) son has Fragile X Syndrome

Symptoms

Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead, and flat feet. The protein FMRP is also affected by Fragile X Syndrome

Mutations/ Inheritance

Fragile x is sex linked. It is dominant.

Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.

Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times.

Diagnoses/Treatment/Ethical implications

The Fragile X Syndrome can be Diagnosed with a simple polymerase chain reaction. Fragile X Syndrome cannot be cured but with therapy the learning disability can be overcome. Medication can treat the anxiety and the mood disorders that often also come along with this disorder. both of these treatments do not hurt the patient but neither are they helpful I am sure that if a more dangerous treatment was available parents would take that risk.