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

Michael L. Nickerson, Michelle B. Warren, Jorge R. Toro, Vera Matrosova, Gladys Glenn, Maria L. Turner, Paul Duray, Maria Merino, Peter Choyke, Christian P. Pavlovich, Nirmala Sharma, McClellan Walther, David Munroe, Rob Hill, Eamonn Maher, Cheryl Greenberg, Michael I. Lerman, W. Marston Linehan, Berton Zbar, Laura S. Schmidt

Research output: Contribution to journalArticlepeer-review

Abstract

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 C8 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.

Original languageEnglish (US)
Pages (from-to)157-164
Number of pages8
JournalCancer cell
Volume2
Issue number2
DOIs
StatePublished - Aug 2002

ASJC Scopus subject areas

  • Oncology
  • Cell Biology
  • Cancer Research

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