A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa
British Journal of Dermatology, 08/08/2012
Nomura Y et al. – A novel splice site mutation, c.582+1delG, in Nicastrin was identified in the familial hidradenitis suppurativa (HS) patients. The authors also revealed for the first time that a γ–secretase gene mutation is not linked to the development of non–familial HS. These results would further pave the way to a better understanding of the contribution of γ–secretase and other genes to the pathogenesis of HS and to the development of a new therapeutic strategy for HS.