NEK2 and microcephalic osteodysplastic primordial dwarfism type II: Of interest, most pathogenic mutations previously reported in patients with MOPD type II are truncation mutations [34, 35], whereas our patient had two missense mutations, c.3716G>A (R1239H) and c.7459C>G (L2487V), in PCNT. The R1239H variant was located on the structural maintenance of chromosomes (SMC) protein domain, while L2487V is expected to interact with NEK2, which plays a key role in the regulation of mitotic processes.