Rare missense variants in the SH3 domain of <i>PSTPIP1</i> are associated with hidradenitis suppurativa.

ABSTRACT: Hidradenitis suppurativa (HS) is a chronic, debilitating skin disease for which few treatment options are available. While most HS is sporadic, some rare kindred show a high-penetrance, autosomal-dominant inheritance. We wanted to identify rare variants that could contribute to HS risk in sporadic cases using candidate gene sequencing. We ultimately identified 21 genes for our capture panel. We included genes of the γ-secretase complex (n = 6) because rare variants in these genes sometimes cause familial HS. We added Notch receptor and ligand genes (n = 13) because γ-secretase is critical for processing Notch receptor signaling. Clinically, some people with PAPA (pyogenic arthritis, pyoderma gangrenosum, and acne) syndrome, a rare inflammatory disease, have concurrent HS. Rare variants in

SUBMITTER: Morales-Heil DJ 

PROVIDER: S-EPMC10066561 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature