BHDS is an autosomal dominant disorder caused by germline mutations in the tumor suppressor gene FLCN, encoding the protein folliculin.
Most FLCN variants are protein-truncating, which may result in folliculin dysfunction or (frameshift, nonsense and splice-site variants). Large intragenic deletions or duplications, as well as disease-causing missense variants, have also been reported. These variants are spread in all coding regions of FLCN; however, the polycytosine tract of exon 11 is thought to represent a mutation hotspot.
FLCN