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Fragile X Syndrome. What Causes Fragile X?. In 1991, scientists discovered the gene (called FMR1) that causes fragile X. FMR1 cannot manufacture the protein that it normally makes Fragile X is inherited.

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Presentation Transcript

What causes fragile x

What Causes Fragile X?

In 1991, scientists discovered the gene (called FMR1) that

causes fragile X.

FMR1 cannot manufacture the protein that it normally makes

Fragile X is inherited.

A male who inherits a full mutation exhibits characteristics of Fragile X syndrome because his only X chromosome contains the mutated gene. A female may not be as severely affected as a male because each cell of her body needs to use only one of its two X chromosomes and randomly inactivates the other.


  • Fragile X syndrome is the single most common inherited cause of mental impairment

  • Fragile X affects 1 in 2000 males

  • Fragile X affects 1 in 4000 females

  • Approximately 40% of cases with X-linked mental retardation

Signs and symptoms
Signs and Symptoms

  • mental impairment, ranging from learning disabilities to mental retardation

  • attention deficit and hyperactivity

  • anxiety and unstable mood

  • autistic-like behaviors

  • long face, large ears, flat feet, and

  • hyperextensible joints, especially fingers

  • Seizures (epilepsy) affect about 25% of people with fragile X


  • A DNA based test to diagnose Fragile X was developed in 1992

  • The blood test can be ordered by any physician; the blood sample is then sent to one of the labs that offers the test

  • The test typically costs $200-$300

  • Southern Blot

  • Polymerase Chain Reaction (PCR)

  • Chromosome test

  • Protein test

Fragile x syndrome

There is NO cure for

Fragile X

  • However, there are a variety of ways to help minimize the symptoms of the condition

  • Those who receive appropriate education, behavioral or physical therapy, and medication have the best chance of using their individual capabilities and skills


  • FMR protein's normal role is to help shape the connections between neurons (brain cells) that underlie learning and memory

  • Some questions that they are asking:

  • Why does the FMR1 gene have an increased number of CGG repeats in the promoter region?

  • What causes the increased methylation of the promoter region, which blocks the gene from producing FMRP?

  • What is the role of FMRP in the brain?

  • How does FMRP help other proteins, and what are the functions of those proteins?

Test question
Test Question

  • What is the gene that causes Fragile X?

  • FMR1 gene