Dym, associated with the Dyggve-Melchior-Clausen Syndrome, is a gene that when defective can cause skeletal dysplasia [1]. Pathogenic variants in the DYM gene have been reported to cause both Dyggve-Melchior-Clausen (DMC) and Smith-McCort (SMC) dysplasias [1].

In a study of large consanguineous families with osteochondrodysplasia phenotypes, homozygosity mapping and Sanger sequencing of the DYM gene were performed [1]. A novel homozygous nonsense variant [DYM (NM_017653.6):c.1205T>A, p.(Leu402Ter)] was identified in affected individuals, which results in loss of protein stability and weakened interactions with other proteins, thus being pathogenic [1].

In conclusion, the Dym gene is crucial in relation to skeletal development as defects in it can lead to significant skeletal dysplasias such as DMC and SMC. The identification of specific pathogenic variants in the Dym gene through genetic studies helps in understanding the underlying mechanisms of these diseases, which is valuable for prenatal screening, genetic counseling, and carrier testing [1].