Fragile X syndrome causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Fragile X syndrome is caused by a change to a FMR1 gene on the X-chromosome. This gene responsible for brain development and to function normally. If this gene is altered in any way, it cannot produce its FMR1 protein, which can result in Fragile X syndrome.
Causes
Fragile x Syndrome is a genetic disease which is caused by mutation in the Fragile x Mental Retardation 1(FMR1) gene in X chromosome. Generally, these mutation (>200 repeats of CGG) occurs at in the 5' untranslated region of FMR1.[1] In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.[2]
References
- ↑ Santoro MR, Bray SM, Warren ST (2012). "Molecular mechanisms of fragile X syndrome: a twenty-year perspective". Annu Rev Pathol. 7: 219–45. doi:10.1146/annurev-pathol-011811-132457. PMID 22017584.
- ↑ Peprah E (2012). "Fragile X syndrome: the FMR1 CGG repeat distribution among world populations". Ann Hum Genet. 76 (2): 178–91. doi:10.1111/j.1469-1809.2011.00694.x. PMC 3288311. PMID 22188182.