PRDM12 Repeat Expansion Testing

Description

Biallelic pathogenic GCC repeat expansions within exon 5 of the PRDM12 gene have been associated with autosomal recessive midface toddler excoriation syndrome (MiTES) and hereditary sensory and autonomic neuropathy type 8 (HSAN8). The pathogenic repeat expansions lead to proteins with an expanded polyalanine tract that causes protein aggregation and mislocalization. The resultant partial loss of PRDM12 function may impact downstream events involved in the development of sensory neurons.

For MiTES, pathogenicity of GCC repeats is dependent upon length according to the following ranges ^1-2:

For HSAN8, pathogenicity of GCC repeats is dependent upon length according to the following ranges: