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Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.
People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include
Fragile X has no cure. You can treat some symptoms with educational, behavioral or physical therapy, and with medicines. Getting treatment early for Fragile X can help.
National Institute of Child Health and Human Development
'''Fragile X Syndrome''' is the most common inherited cause of mental impairment, and the most common known cause of autism. Fragile X syndrome is a genetic disorder caused by a mutation of the FMR1 gene on the X chromosome, a mutation found in 1 out of every 2000 males and 1 out of every 4000 females. Typically the FMR1 gene contains between 6 and 53 repeats of the CGG codon. In people with the disorder, the FMR1 allele has over 230 repeats. Expansion to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FRM1 protein. The characteristic constriction of the X chromosome at the chromosomal locus Xq27.3 is caused by this methylation. Because men have only one copy of the X chromosome, males with sufficient trinucleotide expansion are symptomatic, while females have two X chromosomes and thus double the chance of a working allele (unless parents are related). Aside from mental retardation, the most obvious indicators include physical differences and behaviors commonly associated with autism. Of the former, the most readily visible are an elongated face and large or protruding ears, but others are also frequently present. Of the latter, behavioral stereotypy and atypical social development are the most frequently observed. While there is no current cure for the syndrome, there is hope that further understanding of the FMR1 gene would allow to counteract the underlying genetic cause. Currently, the syndrome can be treated through behavioral therapy, special education, and when necessary, treatment of physical abnormalities. Persons with Fragile X in their family histories are advised to seek genetic counseling to assess the likelihood of having children who are affected, and how severe any impairments may be in affected descendants. [ Read More ]
Fragile X Association of Southern California - Fragile X Syndrome is the leading inherited cause of developmental disabilities and mental impairment worldwide. It affects 1 in 2,000 males and 1 in 4,000 females. It is estimated that 1 in 259 females are carries of the premutation.
FRAXA Research Foundation Home Page - Non-profit organization run by parents. Fighting to find a cure for Fragile X Syndrome and helping Fragile X Family's.
Fragile X Syndrome - Diagnostic and Carrier Testing - A Policy Statement from the American College of Medical Genetics.
Fragile X Syndrome - Single page on recognition of the condition in young children.
Fragile X Fact's Page - Describing Fragile X Syndrome.
Carolina Fragile X Project - A series of studies examining the impact of fragile X syndrome (FXS) on individuals, families and the agencies that serve them.
Queensland Fragile X Association - About QFXA, news, events, links and contacts. Also information of fragile X syndrome.
Online Support Group - Support group for Family's who are dealing with Fragile X Syndrome.
Fact Sheets for Health Professionals: Fragile X Syndrome - From the Victorian Government, Australia.
Maryland Fragile X Resource Group - A community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome. Includes news, upcoming events, and resources.
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