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
- long and narrow face
- large ears
- prominent jaw and forehead
- extraordinary flexible fingers
- flat feet
- enlarged testicles (males after puberty)
- 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
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/ Usa.gov, 2 Feb. 2017, www.cdc.gov. Accessed 5 Feb. 2017.
“Drs. Oostra, Warren, and Nelson.” Fraxa: Finding a Cure for Fragile X, 2017, www.fraxa.org. Accessed 5 Feb. 2017.
“Fragile X Syndrome.” Genetics Home Reference: Your Guide to Understanding Genetic Conditions, U.S. Department of Health & Human Services, 2017, ghr.nlm.nih.gov. 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/ USA.gov/ hhs.gov, 2017, www.nichd.nih.gov. Accessed 5 Feb. 2017.
“Genetics and Inheritance.” Ntxt: National Fragile X Foundation, National Fragile X Foundation, 2017, www.fragilex.org. Accessed 5 Feb. 2017.
“History of Fragile X Syndrome.” Friends for Fragile X, edited by LogoBee, 2010, www.friendsforfragilex.org. 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, www.yourgenome.org. 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, www.ncbi.nlm.nih.gov. Accessed 5 Feb. 2017.
“Testing for Fragile X.” Ntxt: National Fragile X Foundation, National Fragile X Foundation, 2017, www.fragilex.org. Accessed 5 Feb. 2017.
“What Causes Fragile X Syndrome?” Fraxa: Finding a Cure for Fragile X, 2017, www.fraxa.org. Accessed 4 Feb. 2017.