KEGG   DISEASE: H00465Help
Entry
H00465                      Disease                                

Name
Fragile X Syndrome, including:
Fragile X Syndrome (FXS);
Fragile X tremor/ataxia syndrome (FXTAS)
Description
Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region. Expansion of this region can give rise to FXS or fragile-X-associated tremor/ataxia syndrome (FXTAS).
Category
Chromosomal abnormality
BRITE hierarchy
Pathway
RNA transport
Gene
FMR1 [HSA:2332] [KO:K15516]
Comment
(FXR) Full mutation expansions (>200 CGG repeats)
(FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C
  Title
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
  Journal
Cell 134:1042-54 (2008)
Reference
  Authors
Pfeiffer BE, Huber KM
  Title
The state of synapses in fragile X syndrome.
  Journal
Neuroscientist 15:549-67 (2009)
Reference
  Authors
Bhogal B, Jongens TA
  Title
Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.
  Journal
Dis Model Mech 3:693-700 (2010)
Reference
  Authors
Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ
  Title
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
  Journal
Neurology 70:1397-402 (2008)

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