Fragile X Syndrome Sunjin Lee

What is fragile x syndrome?

  • it is a gene that has a mutation in the FMR1 gene
  • the FMR1 gene produces the protein, synaptic functional regulator FMR1
  • the protein is needed for the brain to develop normally

when was the fragile x syndrome first recorded?

Drs. Ben Oostra, Stephen Warren, and David Nelson (left to right)
  • was first discovered by Martin and Bell in 1943
  • also discovered that it was X-linked
  • in 1991, the gene that was the cause of the FXS (fragile X syndrome) was isolated by Drs. Ben Oostra, David Nelson, and Stephen Warren after the start of the Human Genome Project

statistics of fxs

  • FXS is one of the most common rare mental disease
  • is it still rare to have FXS
  • approximately 50,000 people have FXS in the U.S.
  • no studies have done to see the percentage of people global wise for FXS
  • no specific population have shown that they are more affected than others by FXS

symptoms of fxs

A boy with FXS

Physical Symptoms

  • long and narrow face
  • large ears
  • prominent jaw and forehead
  • extraordinary flexible fingers
  • flat feet
  • enlarged testicles (males after puberty)

Intellctual Symptoms

  • impaired development of speech and language by the age of 2
  • general developmental delays
  • social and behavior problems
  • males tend to have a more serious levels of intellectual development compared to females

diagnosis of fxs

  • larger head circumsference in babies
  • possible identification of physical symptoms in babies
  • signs of intellectual symptoms of FXS as growing
  • a PCR (polymerase chain reaction) test is available to find the triple repeat (CGG) in the FMR1 gene to find the source of disease

Treatment of fxs

  • no cure for FXS
  • therapies are available
  • special education and vocational training for impared development of speech and language
  • medication for behavioral issues, but none have shown too helpful

Prognosis of fxs

  • 1/4000 males have FXS
  • 1/6000 females have FXS
  • not much prognosis variation between different race and ethnic groups

genetic pattern of inheritance of fxs

  • it is an X-linked dominant pattern
  • the mutation is located in the X chromosome
  • women have two X chromosomes, so a mutation in one of the chromosome is enough to cause FXS

current research being conducted on fxs

  • There are individual groups out there researchign FXS
  • NICHD has made some big moves in the research of FXS


  • doing research on other disorders associated with FXS
  • ongoing research to see if mGluR5 could reverse the FXS symptoms if inhibited in the patient after birth
  • found that PI3 kinase inhibitors could correct defects in the neurons of FXS patients
  • researches for better diagnostics, screenign tools regarding FXS, and how FXS affects the brain development
  • made NIH Fragile X Research Coordinating Group; has nine institutes, with each of them focusing on a different aspect of FXS

works cited

A dark picture of X chromosomes with one showing the fragile x syndrome, marked in yellow. Centers for Disease Control and Prevention, U.S. Department of Health & Human Services/ HHSOpen/, 2 Feb. 2017, Accessed 5 Feb. 2017.

“Drs. Oostra, Warren, and Nelson.” Fraxa: Finding a Cure for Fragile X, 2017, Accessed 5 Feb. 2017.

“Fragile X Syndrome.” Genetics Home Reference: Your Guide to Understanding Genetic Conditions, U.S. Department of Health & Human Services, 2017, Accessed 5 Feb. 2017.

“Fragile X Syndrome: REsearch Activities and Scientific Advances.” NIH: Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH/, 2017, Accessed 5 Feb. 2017.

“Genetics and Inheritance.” Ntxt: National Fragile X Foundation, National Fragile X Foundation, 2017, Accessed 5 Feb. 2017.

“History of Fragile X Syndrome.” Friends for Fragile X, edited by LogoBee, 2010, Accessed 5 Feb. 2017.

“An illustration showing the appearance of normal and Fragile-X chromosomes. Image credit: Genome Research Limited.” Yourgenome, Wellcome Trust Institute, 5 Jan. 2016, Accessed 5 Feb. 2017.

Synaptic Functional Regulator FMR1 Isoform ISO1 [Homo sapiens}. National Center for Biotechnology Information/ U.S. National Library of Medicine, 2016. NCBI, Accessed 5 Feb. 2017.

“Testing for Fragile X.” Ntxt: National Fragile X Foundation, National Fragile X Foundation, 2017, Accessed 5 Feb. 2017.

“What Causes Fragile X Syndrome?” Fraxa: Finding a Cure for Fragile X, 2017, Accessed 4 Feb. 2017.

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