The PEHO syndrome-causing missense mutations, which result in the ZNHIT3 variants C14F and S31L, lie within the highly conserved Zf-HIT domain of ZNHIT3 (26, 29, 30), which shares 33% sequence identity and 45% sequence similarity between human and yeast (Fig. 1B). The gene discussed is ZNHIT3; the disease is PEHO-like syndrome.