Overview of repeats

There has been only one report which demonstrates the pathogenic role of polyalanine repeat expansion in the exon 3 of the ZIC2 gene (Brown et al., 2005). An expansion of 10 alanines was detected in one patient of ZIC2, resulting in an allele of 25 alanine residues and causing brain malformation, known as holoprosencephaly 5 (HPE), while the normal length was found to be 10 repeats (Brown et al., 2005).

→ View STRipy's population-wide repeat data for ZIC2 locus