Fragile X syndrome causes: Difference between revisions

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==Causes==
==Causes==
[[Fragile X Syndrome|Fragile x Syndrome]] is a [[Genetics|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 [[Five prime untranslated region|5' untranslated region]] of FMR1.<ref name="pmid22017584">{{cite journal| author=Santoro MR, Bray SM, Warren ST| title=Molecular mechanisms of fragile X syndrome: a twenty-year perspective. | journal=Annu Rev Pathol | year= 2012 | volume= 7 | issue=  | pages= 219-45 | pmid=22017584 | doi=10.1146/annurev-pathol-011811-132457 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22017584  }} </ref> In around 2% of cases, Fragile X syndrome can occur as a result of [[point mutation]] in [[FMR1 gene]].<ref name="pmid22188182">{{cite journal| author=Peprah E| title=Fragile X syndrome: the FMR1 CGG repeat distribution among world populations. | journal=Ann Hum Genet | year= 2012 | volume= 76 | issue= 2 | pages= 178-91 | pmid=22188182 | doi=10.1111/j.1469-1809.2011.00694.x | pmc=3288311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22188182  }} </ref>
[[Fragile X Syndrome|Fragile x Syndrome]] is a [[Genetics|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 [[Five prime untranslated region|5' untranslated region]] of FMR1. In around 2% of cases, Fragile X syndrome can occur as a result of [[point mutation]] in [[FMR1 gene]].


==References==
==References==

Latest revision as of 12:50, 16 September 2021


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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. In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.

References

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