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?

• 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

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

NICHD

• 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/ 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.