Previously, the homozygous NBAS mutation c.5741G>A (p.Arg1914His) was reported to be associated with a syndrome comprising short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome, which occurs in the genetically isolated Yakut population (OMIM #614800)5. The gene discussed is NBAS; the disease is short stature-optic atrophy-Pelger-Huët anomaly syndrome.