David J Morales-Heil, Li Cao, Cheryl Sweeney, Anna Malara, Frank Brown, Philip Milam, Milan Anadkat, Jessica Kaffenberger, Benjamin Kaffenberger, Peter Nagele, Brian Kirby, Elisha D O Roberson
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...
April 13, 2023: HGG advances