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Fragile X Syndrome

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Fragile X Syndrome is the most common genetic disorder that causes intellectual disabilities. It caused by a gene mutation on the X chromosome (a sex chromosome)

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Normal X Chromosome Fragile X Chromosome

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Since the Fragile X Mental Retardation 1 (FMR1) gene is found on the X chromosome, it is an x-linked disorder passed down on the x chromosome

People who have 55 to 199 repeats of the DNA base CGG on the FMR1 gene are called premutation carriers. More than 200 repeats, the gene turns off. When the gene turns off, no protein is made. Without the protein, a person develops Fragile X Syndrome.

-Men who have the premutation pass the affected chromosome to their daughters and they will be carriers, but will not pass the affected chromosome to their sons since the sons only inherit a Y chromosome from the father

-Women who have the premutation will either pass a premutation or a mutation that results in fragile X. She has 50% of passing the affected chromosome down to each of her children. Women who have a full mutation will pass the full mutation to any of her children

The fragile X premutation can be passed down silently through generations before a child is born with the syndrome

https://www.youtube.com/watch?v=2QB6nV-IRtQ

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-Mild to severe intellectual disabilities (females often have milder intellectual disabilities)
-Some people might be hyperactive, have attention disorders, and/or be aggressive
-Have poor eye contact, social anxiety, and anxious in new situations
-Display autistic behaviors
-Problems with speech and language (mostly boys)
-Long, narrow face, prominent ears and forehead, flat feet, sunken chest
-gastrointestinal problems
-Seizures
-Flexible joints
-Repetitive movements

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Population with predispositions to the disease

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Population with predispositions to the disease

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-It affects 1 in 4,000 men

Because females have two X chromosomes and males only have one X chromosome, males are more likely to get Fragile x syndrome and women are more likely to be carriers rather than have the syndrome.

-It affects 1 in 6,000 women
-Occurs in all racial and ethnic groups

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Fragile X Syndrome cannot be prevented, but people with Fragile X in their families can undergo genetic testing to see if they have the gene mutation

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While there is no cure, there are treatments that can help minimize the symptoms. Early intervention gives a child a greater chance of developing a full range of skills. Some treatments are:

Individualized Educational Plan (IEP)

Speech-language therapists

Occupational therapists

Physical therapists

Behavioral therapists

No medication that can cure Fragile X, but medications have been used to treat some of the symptoms of Fragile x

There are no side effects except for some medicines for the symptoms that might be addictive

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https://medlineplus.gov/fragilexsyndrome.html

https://www.fraxa.org/fragile-x-syndrome/cause/

https://www.genome.gov/19518828/

https://sites.google.com/site/ellegeneticdisorders/fragile-x-syndrome

http://www.keywordsking.com/ZnJhZ2lsZSB4IHN5bmRyb21l/

http://torresbioclan.pbworks.com/w/page/22377111/Fragile%20X%20Syndrome

https://www.medicinenet.com/fragile_x_syndrome/article.htm#medication_options