Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6.


Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination mapping in BHD families delineated the susceptibility locus to 700 kb on chromosome 17p11.2. Protein-truncating mutations were identified in a novel candidate gene in a panel of BHD families, with a 44% frequency of insertion/deletion mutations within a hypermutable C(8) tract. Tissue expression of the 3.8 kb transcript was widespread, including kidney, lung, and skin. The full-length BHD sequence predicted a novel protein, folliculin, that was highly conserved across species. Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer, will contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 17 / genetics
  • Conserved Sequence
  • DNA Mutational Analysis
  • Estrone / chemistry
  • Estrone / genetics*
  • Exons / genetics
  • Female
  • Frameshift Mutation / genetics
  • Genetic Predisposition to Disease
  • Hair Follicle / pathology*
  • Hamartoma / genetics*
  • Humans
  • Kidney Neoplasms / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Physical Chromosome Mapping
  • Pneumothorax / genetics*
  • Pneumothorax / pathology
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Syndrome


  • RNA, Messenger
  • Estrone

Associated data

  • GENBANK/AF517523