The newborn reported by Chevrier et al. with OFD was compound heterozygous for variants c.1891A > T (p.Lys631*) and splice mutation, c.1546-3 C > A (p.Asn439Glyfs4*) in KIAA0753. Both this newborn with OFD and our patients have premature stop codons occurring before the last splice junction, and therefore they are likely to lack KIAA0753 protein due to nonsense mediated decay20. This evidence concerns the gene KIAA0753 and orofaciodigital syndrome.