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 the causative NCSTN variant and the familial segregation. The microarray data set of the Immunological Genome Project was used for thorough dissection of the expression and function of wildty

SUBMITTER: Vossen ARJV 

PROVIDER: S-EPMC7586943 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature