Fragile X Sydrome

Genetic Deisease

Rose Nguyen//4th period

Fragile X Syndrome

Fragile X Syndrome is a genetic condition. Fragile X causes many developmental problems such as learning disabilities and cognitive impairment. Most males are affected with Fragile X than females. It approximately 1 out of 4000 in males, and 1 out of 8000 in females.Most of the males and half of the females have characteristic physical features that become more apparent with age. They will have long and narrow faces, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and for the males - enlarged testicles after puberty. About 1/3 of individuals with Fragile X syndrome have features of autism spectrum disorders that affects their communication and social interaction. Some may also have ADD. In children, they would have anxiety and hyperactive such as fidgeting or impulsive actions. There are also symptoms of seizures to occur. About 15% of males have seizure occurrence and about 5% of females have seizure occurrence. Fragile X Syndrome is a horrifying disorder.

Causes of Fragile X Syndrome

There are many causes of Fragile X Syndrome. Fragile X Syndrome is caused by a mutation in the FMRI gene. FMRI provides instructions for making a protein called FMRP (fragile x retardation 1 protein.) Nearly all cases are caused by the mutation in the DNA. The CGG triplet (DNA segment) repeats and expands within the FMRI gene which turns off the gene. This prevents the gene to produce FMRP and begins to lose and shorten the protein. It will disrupt the nervous system functions and leads to the signs and symptoms of Fragile X.Normally, the DNA segment repeats itself 5 to 40x's but a Fragile X DNA segment repeats more than 200x's. Fragile X syndrome is passed on in an X-linked dominant pattern . It can be detected by one single gene.

Long Term Effects and Treatments

Fragile X syndrome usually begins at the age of 2. It has affected the development of speech and language causing it to delay. There is actually no way to cure Fragile X syndrome. If each child take accurate medication and have an appropriate education, it can potentially help maximize the syndrome.