Due to clinical similarity to other PRDM12-CIP cases, the targeted Sanger sequencing was performed on the DNA sample from patient 1 that revealed a homozygous splice acceptor site variant within intron 1 of PRDM12 NM_021619:c.224-2 A>T (chr9: 133541993) (Figure 1B). This evidence concerns the gene PRDM12 and hereditary sensory and autonomic neuropathy.