Fragile X syndrome
Evidence-based neurology checklist on fragile x syndrome: Genetics This is caused by silencing of the fragile X mental retardation (FMR1) gene The mutation is dynamic and causes CGG repeat expansion The mutation causes the dysregulation of other genes There is genetic anticipation: this is usually…
Genetics
- This is caused by silencing of the fragile X mental retardation (FMR1) gene
- The mutation is dynamic and causes CGG repeat expansion
- The mutation causes the dysregulation of other genes
- There is genetic anticipation: this is usually with maternal transmission
CGG repeat expansions
Early features
Epilepsy
Autistic features
Cognitive dysfunction
Physical features
Other features
Imaging features
References
- D'Hulst C, Kooy RF. Fragile X syndrome: from molecular genetics to therapy. J Med Genet 2009; 46:577-584.
- Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest 2012; 122:4314-422.
- Marco EJ, Skuse DH. Autism-lessons from the X chromosome. SCAN 2006; 1:183–193.
- Hagerman PJ, Stafstrom CE. Origins of epilepsy in Fragile X syndrome. Epilepsy Curr 2009; 9:108-112.
- Berry-Kravis E, Raspa M, Loggin-Hester L, Bishop E, Holiday D, Bailey DB. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil 2010; 115:461-472.
Related checklists
- Epilepsy and chromosomal disorders: classification
- Angelman syndrome
- Alfi syndrome
- Miller Dieker syndrome
- Patau syndrome
- Williams Beuren syndrome (WBS)
- Wolf-Hirschhorn syndrome
- 1p36 monosomy
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 6q terminal deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
- 18q deletion syndrome
- Ring 14 chromosome
- Ring 20 chromosome
- Trisomy 12p
