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. | |||
== 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. In around 2% of cases, Fragile X syndrome can occur as a result of [[point mutation]] in [[FMR1 gene]]. | |||
== References == | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 12:50, 16 September 2021
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Fragile X syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fragile X syndrome causes On the Web |
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American Roentgen Ray Society Images of Fragile X syndrome causes |
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Risk calculators and risk factors for Fragile X syndrome causes |
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. In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.