FRA12A mental retardation

Definition:

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.

References:

[1]. Birgitta Winnepenninckx, et al. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet. 2007 Feb;80(2):221-31. [Content Brief]

[2]. Daman Kumari, et al. Chromatin remodeling in the noncoding repeat expansion diseases. J Biol Chem. 2009 Mar 20;284(12):7413-7. [Content Brief]

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