Among the various genes that have been reported to cause SEMD, a loss-of-function mutation (a homozygous c.408+1G>A donor splice site mutation) in the DDRGK1 domain-containing (DDRGK1) gene is garnering interest in this research field 5, 6. The gene discussed is DDRGK1; the disease is spondyloepimetaphyseal dysplasia.