Fragile X syndrome- mutations in the FMR1 gene

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Fragile X Syndrome

  1. Creative Writing:

Braden was 30 months old when he spoke his first words, just 6 months before his diagnosis. When the doctor first explained our situation, I couldn’t help but blame my wife out of frustration, even though I knew it wasn’t her fault and that she couldn’t control her genes. Nevertheless, life is different when you have a son with fragile X syndrome. My wife had to quit her job to take care of him full-time, and we had to find a school where we could enroll him in special education. Honestly, it can be hard to even leave the house because of how upset he will get sometimes, but we have been working on that with him in his therapy sessions, where he is also slowly learning how he will live independently, later in his life. Recently, we were even able to get him into a clinical study, but, unfortunately, the medication tested seemed to have little effect for him. Regardless, it still gives me hope that someday there will be a cure, and I still love him. I’ve gone through times where I have literally ripped my hair out in frustration, and times where I have experienced incomparable joy from seeing his achievements, but, throughout all that both my wife and I have dealt with, it has been worth it to be able to watch my son grow up.

  1. Background Information:

Fragile X was first discovered in 1943 by James Martin and Julia Bell. By investigating a family that had multiple males who suffered from mental retardation, Martin and Bell linked their developmental disorders to a form of X-linked inheritance [1] [3]. No famous people are known to have had fragile X syndrome, since the symptoms of the disease often prevent the social success necessary to become famous in our society, although it is suspected that Albert Einstein and Kim Peek both had fragile X. People with fragile X usually have delayed speech development. Most males with the syndrome are moderately intellectually disabled, while only about 30% of females are. Many have attention disorders, behavioral challenges, anxiety problems, and hyperactivity. Seizures occur in 1/6 males and 1/20 females. Physically, as the affected person begins to go through puberty, many develop narrow faces, larger heads/ears, flat feet, and large foreheads [2] [5]. Diagnosis occurs in early childhood, generally around the 36 months of age, and there is no notable variation seen between ethnic groups. About 1 in 4000 males have fragile X syndrome, while only about 1 in 8000 females have it, which is due to the fact that many female victims of fragile X are able to function at a high enough level that the syndrome may go unnoticed because women have two X chromosomes. Additionally, 1 in 800 men and 1 in 260 women are carriers of the pre-mutation of fragile X [1] [4].

[1] Centers for Disease Control and Prevention. "Fragile X - Data & Statistics." Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/fxs/data.html (accessed January 31, 2014).

[2] "Fragile X syndrome." Genetics Home Reference. http://ghr.nlm.nih.gov/condition/fragile-x-syndrome (accessed January 26, 2014).

[3] Jewell, Jennifer. "Fragile X Syndrome." Medscape.com. http://emedicine.medscape.com/article/943776-overview#a0101 (accessed January 28, 2014).

[4] National Fragile X Foundation. "National Fragile X Foundation Home." National Fragile X Foundation. http://www.fragilex.org (accessed January 26, 2014).

[5] USA.gov. "What are the symptoms of Fragile X syndrome?" National Institutes of Health. http://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/commonsymptoms.aspx (accessed January 26, 2014).

  1. Scientific Information:

Fragile X syndrome is caused by mutations in the FMR1 gene, which is located on the X chromosome. More specifically, it is caused by an expanded repetition of the CGG triplet in the gene. In a normal person, the segment repeats about 5 to 40 times, but in people with the syndrome, the triplet is repeated more than 200 times, causing the FMR1 gene to be silenced. The syndrome is inherited through a sex-linked, dominant pattern, and causes more drastic effects in males. The protein the FMR1 gene produces, fragile X mental retardation 1 protein (FMRP), is crucial to nervous system functions and synapse development. The protein also is used to regulate the production of other proteins. A lack of development of FMRP can result in brain cells to not be able to communicate as well as they should [1].

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Unfortunately, there is no cure for fragile X syndrome. Currently, the only direct treatment for fragile X is being done through clinical research, which is slowly making progress, but children can still be helped immediately, if needed or desired. Doctors can prescribe medications to treat the effects of fragile X, such as attention disorders, like ADHD, and anxiety problems, such as OCD. In more severe cases, anti-psychotics may be prescribed. Special education can also help any child with the syndrome to make progress both mentally and socially, and there are therapy programs available to help the child become independent as they move on in their lives [2].

[1] "Fragile X syndrome." Genetics Home Reference. http://ghr.nlm.nih.gov/condition/fragile-x-syndrome (accessed January 26, 2014).

[2] National Fragile X Foundation. "National Fragile X Foundation Home." National Fragile X Foundation. http://www.fragilex.org (accessed January 26, 2014).

  1. Resources for Patients and their Families:

The best resource for families dealing with fragile X syndrome seems to be the National Fragile X Foundation (www.fragilex.org), which provides information, life planning, research opportunities, aid, and more to families with children diagnosed with Fragile X syndrome [1].

[1] National Fragile X Foundation. "National Fragile X Foundation Home." National Fragile X Foundation. http://www.fragilex.org (accessed January 26, 2014).

  1. Bibliography:

Centers for Disease Control and Prevention. "Fragile X - Data & Statistics." Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/fxs/data.html (accessed January 31, 2014).

"Fragile X syndrome." Genetics Home Reference. http://ghr.nlm.nih.gov/condition/fragile-x-syndrome (accessed January 26, 2014).

FRAXA. "Fragile X Syndrome - FRAXA Research Foundation Home Page." FRAXA Research Foundation. http://www.fraxa.org/ (accessed January 30, 2014).

Jewell, Jennifer. "Fragile X Syndrome." Medscape.com. http://emedicine.medscape.com/article/943776-overview#a0101 (accessed January 28, 2014).

National Fragile X Foundation. "National Fragile X Foundation Home." National Fragile X Foundation. http://www.fragilex.org (accessed January 26, 2014).

National Institutes of Health . "Families and Fragile X Syndrome." nih.gov. https://www.nichd.nih.gov/publications/pubs/fragileX/Documents/fragileX.pdf (accessed January 30, 2014).

Urry, Lisa A.. "Gene Expression: From Gene to Protein." In Campbell Biology In Focus. Boston: Pearson, 2014. 267-291.

USA.gov. "What are the symptoms of Fragile X syndrome?" National Institutes of Health. http://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/commonsymptoms.aspx (accessed January 26, 2014).

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