Fragile X syndrome causes: Difference between revisions
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== Overview == | ==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. | [[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 == | ==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.<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.<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> | ||
== References == | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 20:43, 3 September 2021
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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.