Fragile X syndrome
Fragile X syndrome (FXS) is a genetic syndrome that causes a range of intellectual disabilities as well as unusual physical and behavioural characteristics. Males and females can have FXS but it is more common, and often more serious, in males.[1] It is one of the most common causes of autism and intellectual disability among boys.[2][3] Individuals with this condition lack an important gene product.[1]
| Fragile X syndrome | |
|---|---|
| Classification and external resources | |
 Location of FMR1 gene | |
| ICD-10 | Q99.2 |
| ICD-9 | 759.83 |
| OMIM | 300624 |
| DiseasesDB | 4973 |
| MedlinePlus | 001668 |
| eMedicine | ped/800 |
| MeSH | D005600 |
Technical account
Fragile X syndrome occurs as a result of a mutation of the FMR1 gene on the X chromosome. This causes an increase an increase in the number of CGG repeats in the 5' untranslated region of FMR1.[4]
In unaffected individuals, the FMR1 gene contains 5–44 repeats of the CGG codon, most commonly 29 or 30 repeats.[4][5] Between 45 and 54 repeats is considered a "grey zone". Between 55 and 200 repeats in length is described as a premutation allele. Individuals with fragile X syndrome have a full mutation of the FMR1 allele, with over 200 repeats of the CGG codon.[2][5][6]
In these individuals with a repeat expansion greater than 200, there is methylation of the CGG repeat expansion and FMR1 promoter. This silences the FMR1 gene, and its end-product is not made.
Fragile X Syndrome Media
Prominent characteristics of the syndrome include an elongated face and large or protruding ears.
References
- ↑ 1.0 1.1 CDC (2022-06-03). "What is Fragile X Syndrome (FXS)? | CDC". Centers for Disease Control and Prevention. Retrieved 2023-01-11.
- ↑ 2.0 2.1 McLennan Y. et al 2011 (2011). "Fragile X Syndrome". Current Genomics. 12 (3): 216–224. doi:10.2174/138920211795677886. PMC 3137006. PMID 22043169.
- ↑ Budimirovic D.B. & Kaufmann W.E. 2011 (2011). "What can we learn about autism from studying fragile X syndrome?". Dev Neurosci. 33 (5): 379–94. doi:10.1159/000330213. PMC 3254037. PMID 21893949. Retrieved 26 January 2012.
- ↑ 4.0 4.1 Santoro M.R. et al 2012. Molecular mechanisms of Fragile X Syndrome: a twenty-year perspective. Annu. Rev. Pathol. Mech. Dis. 7: 219–45. [1] Archived 2016-05-23 at the Wayback Machine
- ↑ 5.0 5.1 Maddalena A. et al 2001. (2001). "Technical Standards and Guidelines for Fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics". Genetics in Medicine. 3 (3): 200–205. doi:10.1097/00125817-200105000-00010. PMC 3110344. PMID 11388762.
- ↑ Nolin S.L. et al 2003 (2003). "Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles". American Journal of Human Genetics. 72 (2): 454–64. doi:10.1086/367713. PMC 379237. PMID 12529854.