Fragile X syndrome
hideFragile X syndrome, or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features which range from severe to mild in manifestation.
The syndrome is associated with the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome, and results in a failure to express the FMR1 protein which is required for normal neural development. There are four generally accepted forms of Fragile X syndrome which relate to the length of the repeated CGG sequence; Normal (29-31 CGG repeats), Premutation (55-200 CGG repeats), Full Mutation (more than 200 CGG repeats), and Intermediate or Gray Zone Alleles (40 - 60 repeats).
Martin and Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Chris and Weesam first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".
Renpenning's syndrome is not synonymous with the syndrome. In Renpenning's syndrome, there is no fragile site on the X chromosome. Renpenning's cases have short stature, moderate microcephaly, and neurological (brain) disorders.
Escalante's syndrome is synonymous with the fragile X syndrome. This term has been used in Brazil and other South American countries.
For more information about Fragile X syndrome, read the full article at
Wikipedia.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
News tagged with fragile x syndrome
Back to (brain) basics
Medicine & Health / Neuroscience
Nov 03, 2009 |
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(PhysOrg.com) -- In his own words, MIT neuroscientist Mark Bear admits he did not "wake up one day and say 'Hey, I'm going to cure autism.'" But, after decades of painstaking basic research on how the brain ...
Promising new drug being evaluated as possible treatment option for fragile X syndrome
Jan 07, 2009 |
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A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose ...
Chemists Rationally Design Inhibitors Against an RNA Molecule that Causes Myotonic Muscular Dystrophy
Aug 07, 2009 |
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(PhysOrg.com) -- Chemists at the University at Buffalo have used rational drug design to synthesize small, cell-permeable molecules that are effective in vitro against two common types of myotonic muscular ...
Biologists discover link between CGG repeats in DNA and neurological disorders
Biology /
Jan 11, 2009 |
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Researchers have long known that some repetitive DNA sequences can make human chromosomes "fragile," i.e. appearing constricted or even broken during cell divisions. Scientists at Tufts University have found that one such ...
Small molecules might block mutant protein production in Huntington's disease
May 03, 2009 |
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Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.
Clinical tests begin on medication to correct Fragile X defect
Medicine & Health / Neuroscience
Nov 02, 2009 |
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NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common ...
Trembling hands and molecular handshakes
Oct 23, 2009 |
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The heritable Fragile X tremor/ataxia syndrome is a common neurodegenerative disease. It is assumed to result from a relative lack of the protein Pur-alpha. A new study by a German team under the leadership of Dr. Dierk Niessing ...
Research breakthrough targets genetic diseases
Jan 20, 2009 |
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(PhysOrg.com) -- A cure for debilitating genetic diseases such as Huntington’s disease, Friedreich’s ataxia and Fragile X syndrome is a step closer to reality, thanks to a recent scientific breakthrough.
Discovery could lead to new autism treatment
Feb 04, 2009 |
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A Brown University research team has discovered something in the brain that could serve as a target for future autism and mental retardation treatments.
Investigating a sometimes-faulty protein's role in brain links
May 05, 2009 |
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(PhysOrg.com) -- Researchers at MIT's Picower Institute for Learning and Memory have shed light on how a protein implicated in cognitive disorders maintains and regulates brain cell structures that are key to learning and ...
Measuring intellectual disability
Jun 24, 2009 |
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Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. ...
Could some forms of mental retardation be treated with drugs?
Medicine & Health / Neuroscience
Oct 20, 2009 |
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Growth factors. They are the proteins that trigger a countless number of actions in cells. Drugs that increase or decrease certain growth factors have lead to treatments for cancer and cardiovascular diseases. Georgetown ...
