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fragile X syndrome
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fragile X syndrome

The commonest inherited cause of mental retardation. It is inherited as an X-linked recessive condition and is so named because sufferers have a fragile site on one of their X chromosomes. Women carry two X chromosomes and are therefore more commonly affected than men, but less seriously. The gene was located 1991.

It affects up to 1 in 1,000 boys and 1 in 2,500 girls. Virtually all male sufferers are mentally retarded, and whilst some of the females are unaffected most have significant learning difficulties.

The fragile site is caused by a mutation that causes unstable forms of the gene FMR-1 to expand by repeating three specific nucleotides. Healthy carriers may have about 60 repeats; those severely affected may have thousands.
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The most common inherited form of mental retardation, fragile X syndrome, continues to baffle researchers even though the mutant gene responsible for the condition was identified a decade ago.
Fragile X protein reveals its RNA partners by Travis, J. / Science News
Children With Fragile X Syndrome: A Parent's Guide Weber JD, ed.
Children With Fragile X Syndrome: A Parent's Guide by Sternat, Janet / Physical Therapy
announced today that it has scheduled seminars this fall in Chicago, Boston and New York City to discuss the company's plans to begin preclinical studies and clinical trials of SB15, a newly-formulated compound for the treatment of anxiety associated with fragile X syndrome and autism.
Sherman Biotech Plans Studies and Clinical Trials for Treatment of ... by Business Wire
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