The c.259C>T (p.Gln87*) mutation of EFTUD2 was detected in a patient with mandibulofacial dysostosis (MFD) (45), while another patient with MFDM carried the c.1732C>T (p.R578X) mutation (32), both of which caused premature termination of EFTUD2 protein synthesis. The gene discussed is EFTUD2; the disease is mandibulofacial dysostosis.