Variation within DSE has been associated with several cancers (Gouignard et al., 2016a; Thelin et al., 2013, 2012), Heschl’s Gyrus thickness (Cai et al., 2014), and is also a notable risk factor for Ehlers-Danlos syndrome, with a subtype specifically linked to dysfunction of DSE (Müller et al., 2013). Recent work by Gouignard et al. (Gouignard et al., 2016b) demonstrates a functional role for dse (the protein encoded by DSE) in cranial neural crest cell migration and in cell adhesion providing a potential biological mechanism linking DSE dysfunction to Ehlers-Danlos syndrome and other neural crest related disorders (i.e., neurocristopathies); the knockdown of dse impaired the correct activation of transcription factors involved in the epithelial-mesenchymal transition and reduced the extent of neural crest cell migration, subsequently leading to a decrease in neural crest-derived craniofacial skeleton, melanocytes and dorsal fin structures.
