Fragile X syndrome pathophysiology: Difference between revisions
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== Overview == | ==Overview== | ||
Fragile X syndrome (FXS) is caused by changes in a gene " specifically FMR1 gene" when it was first discovered. The FMR1 gene codes for protein responsible for brain development. | [[Fragile X syndrome]] (FXS) is caused by changes in a gene " specifically [[FMR1]] gene" when it was first discovered. The FMR1 gene codes for [[protein]] responsible for [[brain]] development. | ||
== Pathophysiology == | ==Pathophysiology== | ||
Fragile x syndrome has an x-linked dominant inheritance. It is caused by an expansion of CGG trinucleotide repeat within FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to methylation of part of gene on X chromosome that codes for Fragile X Mental retardation protein (FMRP), which is required for proper development of connections between neurons. | Fragile x syndrome has an [[x-linked]] [[Dominant allele|dominant]] [[inheritance]]. It is caused by an expansion of [[Trinucleotide repeat disorder|CGG trinucleotide]] repeat within FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to [[methylation]] of part of [[gene]] on X [[chromosome]] that codes for Fragile X Mental retardation protein ([[FMRP]]), which is required for proper development of connections between [[neurons]]. | ||
== References == | ==References== | ||
fragile X syndrome - Genetics Home Reference [Internet]. 2016 [cited 2021 Jul 15]. Available from: https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome | fragile X syndrome - Genetics Home Reference [Internet]. 2016 [cited 2021 Jul 15]. Available from: https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome |
Revision as of 20:40, 3 September 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Fragile X syndrome (FXS) is caused by changes in a gene " specifically FMR1 gene" when it was first discovered. The FMR1 gene codes for protein responsible for brain development.
Pathophysiology
Fragile x syndrome has an x-linked dominant inheritance. It is caused by an expansion of CGG trinucleotide repeat within FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to methylation of part of gene on X chromosome that codes for Fragile X Mental retardation protein (FMRP), which is required for proper development of connections between neurons.
References
fragile X syndrome - Genetics Home Reference [Internet]. 2016 [cited 2021 Jul 15]. Available from: https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome