Difference between revisions of "Fragile X syndrome"
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| − | '''Fragile X syndrome''' is the second most frequent genetic cause of mental retardation, after [[ | + | '''Fragile X syndrome''' is the second most frequent genetic cause of mental retardation, after [[Down's syndrome]]. The disorder is one of a group of diseases that results from an unusual kind of mutation: an expansion of a repeating sequence of three letters of the DNA code, called a [[triplet repeat]] or [[trinucleotide repeat]]. |
In Fragile X, the repeating triplet is CGG, cytosine-guanine-guanine, in a gene called FMR1 on the X chromosome. There are ordinarily fewer than 55 copies of the repeat. When the number of repeats exceeds 200, the expansion is called a "full mutation" and expression of the FMR1 gene is shut off, causing the fragile X syndrome. | In Fragile X, the repeating triplet is CGG, cytosine-guanine-guanine, in a gene called FMR1 on the X chromosome. There are ordinarily fewer than 55 copies of the repeat. When the number of repeats exceeds 200, the expansion is called a "full mutation" and expression of the FMR1 gene is shut off, causing the fragile X syndrome. | ||
Revision as of 22:15, February 20, 2008
Fragile X syndrome is the second most frequent genetic cause of mental retardation, after Down's syndrome. The disorder is one of a group of diseases that results from an unusual kind of mutation: an expansion of a repeating sequence of three letters of the DNA code, called a triplet repeat or trinucleotide repeat.
In Fragile X, the repeating triplet is CGG, cytosine-guanine-guanine, in a gene called FMR1 on the X chromosome. There are ordinarily fewer than 55 copies of the repeat. When the number of repeats exceeds 200, the expansion is called a "full mutation" and expression of the FMR1 gene is shut off, causing the fragile X syndrome.
Individuals who carry between 55 and 200 copies of the repeat, called a "premutation", may transmit a gene with a full mutation (>200 repeats) to their children, but are generally not affected by the full-blown fragile X syndrome themselves.
Carriers of premutations may have difficulties with mild cognitive or behavioral problems, premature ovarian failure in female carriers,and an adult-onset neurological disorder causing tremor and difficulties with balance and gait.
Sources
http://www.genome.gov/glossary.cfm?key=Fragile%20X%20syndrome