STRs database » DIP2B locus
Overview of repeats
CGG repeat expansions in the 5′ UTR of the DIP2B gene have been associated with FRA12A mental retardation (MRFRA12A). Research by Winnepenninckx et al. (2007) determined the repeat length in the control group to be between 6 and 23 repeats. Individuals who cytogenetically expressed the FRA12A fragile site were found to carry repeat expansions. In unaffected individuals, one allele was found to be 417-617 bp (~139-206 repeats), but in affected ones it was over 817 bp, corresponding to at least ~272 repeats (Winnepenninckx et al. (2007)).
More recently, Théberge et al. (2025) described two brothers with a DIP2B expansion, neurodevelopmental disability and a progressive movement disorder including chorea, dystonia and ataxia. However, Ko et al. (2026) found long DIP2B alleles in individuals with diverse phenotypes, including healthy carriers, and reported no evidence for an association between the repeat expansion, promoter hypermethylation or loss-of-function variants and neurological disease.