KEGG   DISEASE: FRA12A mental retardation
Entry
H01306                      Disease                                
Name
FRA12A mental retardation
Description
FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H01306  FRA12A mental retardation
Gene
DIP2B [HSA:57609] [KO:K24908]
Other DBs
ICD-11: 6A00
MeSH: C566980
OMIM: 136630
Reference
  Authors
Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF
  Title
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
  Journal
Am J Hum Genet 80:221-31 (2007)
DOI:10.1086/510800
Reference
  Authors
Kumari D, Usdin K
  Title
Chromatin remodeling in the noncoding repeat expansion diseases.
  Journal
J Biol Chem 284:7413-7 (2009)
DOI:10.1074/jbc.R800026200
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