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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-Dube syndrome

  1. Author:
    Nickerson, M. L.
    Warren, M. B.
    Toro, J. R.
    Matrosova, V.
    Glenn, G.
    Turner, M. L.
    Duray, P.
    Merino, M.
    Choyke, P.
    Pavlovich, C. P.
    Sharma, N.
    Walther, M.
    Munroe, D.
    Hill, R.
    Maher, E.
    Greenberg, C.
    Lerman, M. I.
    Linehan, W. M.
    Zbar, B.
    Schmidt, L. S.

  2. Author Address

    NCI, Intramural Res Support Program, SAIC Frederick Inc, Frederick, MD 21702 USA NCI, Intramural Res Support Program, SAIC Frederick Inc, Frederick, MD 21702 USA NCI, Mol Technol Lab, SAIC Frederick Inc, Frederick, MD 21702 USA NCI, Immunobiol Lab, Ctr Canc Res, SAIC Frederick Inc, Frederick, MD 21702 USA NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, Ctr Canc Res,NIH, Bethesda, MD 20894 USA NCI, Dermatol Branch, Canc Res Ctr, NIH, Bethesda, MD 20894 USA NCI, Pathol Lab, Canc Res Ctr, NIH, Bethesda, MD 20894 USA NCI, Urol Oncol Branch, Canc Res Ctr, NIH, Bethesda, MD 20894 USA NIH, Ctr Clin, Bethesda, MD 20894 USA Univ Birmingham, Sch Med, Dept Pediat & Child Hlth, Sect Med & Mol Genet, Birmingham, W Midlands, England Univ Manitoba, Dept Pediat & Child Hlth, Winnipeg, MB R3T 2N2, Canada Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB R3T 2N2, Canada Schmidt LS NCI, Intramural Res Support Program, SAIC Frederick Inc, Frederick, MD 21702 USA
    1. Year: 2002
  2. Journal: Cancer Cell
    1. 2
    2. 2
    3. Pages: 157-164
  4. Type of Article: Article
  1. Abstract:

    Birt-Hogg-Dube (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.

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