A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.
Journal: 2019/August - British Journal of Dermatology
ISSN: 1365-2133
Abstract:
NCSTN encodes nicastrin, one of the three subunits of γ-secretase, a transmembrane endoprotease complex that catalyzes the cleavage of many transmembrane proteins including Notch receptors.1 In 2010, mutations in genes encoding γ-secretase subunits (NCSTN, PSENEN and PSEN1) were reported in cases of hidradenitis suppurativa (HS).2 It has been demonstrated that tumor necrosis factor-α and interleukin (IL) -10 levels are elevated in patients with HS with NCSTN mutations,1 although other reports found no elevation3 or found decreases.
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