Fragile X Syndrome Essay

780 words - 4 pages

I. Family Member Perspective:
It all began at birth when we noticed our newborn baby boy had a slightly larger and more rounded head in comparison to the other babies. As he was developing he always had trouble communicating with us. His speech development was lacking behind causing constant behavioral problems. He would constantly yell and throw objects whenever he needed something. By the age of four our son had extreme difficulty communicating with his pre-school class, forcing us to remove him from pre-school and begin schooling our child on our own. While trying to educate our child on different shapes and sounds he could not remain in one spot for longer than five minutes. This led us ...view middle of the document...

Genetic Cause 5:
● Insertion and deletion mutations in the FMR1 gene cause fragile X syndrome 9. This gene provides directions for creating a protein called fragile X mental retardation 1 protein, or FMRP.
● The atypically expanded CGG segment turns off the FMR1 gene, which prevents the gene from producing FMRP, leading to interruption in nervous system functions.
● Fragile X syndrome is inherited in an X-linked dominant pattern.
● FXS is considered to be a sex-linked disease.
Pedigree:

Biochemical Results 7:
• FMR1 gene provides directions for making a protein called Fragile X mental retardation 1 protein. This protein aides the control of production of other proteins and plays a role in the development of synapses, which are focused connections between nerve cells 6. FSX results from a mutation in a DNA segment known as the CGG triplet. Normally this triplet is repeated 5 - 40 times. People with Fragile X, repeat more than 200 times. Abnormally produced CGG turns off the FMR1 gene, which prevents the gene from producing FMRP. A shortage of this protein interrupts nervous system functions and results in the signs and symptoms of Fragile X. Currently no treatment exists to correct or remove the extra CGG repetitions that cause Fragile X syndrome.
• Ways to help minimize the symptoms of the condition 8:
o Psychological counseling for the affected child and family.
o Occupational therapy and...

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