Overview of repeats

Polyalanine expansions in the exon 3 of the RUNX2 gene (also known as CBFA1) have been associated with the cleidocranial dysplasia (CCD). In one study conducted by Mundlos et al. (1997) discovered a family where six members carried an expanded allele. The repeat size in these patients was 27, whereas the normal length is 17 alanine repeats (Mundlos et al., 1997).

→ View STRipy's population-wide repeat data for RUNX2 locus