A novel nicastrin mutation in a three‐generation Dutch family with hidradenitis suppurativa: a search for functional significance

Abstract Background Mutations in the γ‐secretase enzyme subunits have been described in multiple kindreds with familial hidradenitis suppurativa ( HS ). Objective In this study, we report a novel nicastrin ( NCSTN ) mutation causing HS in a Dutch family. We sought to explore the immunobiological function of NCSTN mutations using data of the Immunological Genome Project. Methods Blood samples of three affected and two unaffected family members were collected. Whole‐genome sequencing was performed using genomic DNA isolated from peripheral blood leucocytes. Sanger sequencing was done to confirm... Mehr ...