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Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2

  1. Author:
    Schmidt, L. S.
    Warren, M. B.
    Nickerson, M. L.
    Weirich, G.
    Matrosova, V.
    Toro, J. R.
    Turner, M. L.
    Duray, P.
    Merino, M.
    Hewitt, S.
    Pavlovich, C. P.
    Glenn, G.
    Greenberg, C. R.
    Linehan, W. M.
    Zbar, B.

  2. Author Address

    Natl Canc Inst, Intramural Res Support Program, IRSP, SAIC, Bldg 560, Room 12-69, Frederick, MD 21702 USA. Natl Canc Inst, Intramural Res Support Program, IRSP, SAIC, Frederick, MD 21702 USA. Natl Canc Inst, Immunobiol Lab, Frederick, MD 21702 USA. Natl Canc Inst, Natl Inst Hlth, Dermatol Branch, Bethesda, MD USA. Natl Canc Inst, Natl Inst Hlth, Genet Epidemiol Branch, Bethesda, MD USA. Natl Canc Inst, Natl Inst Hlth, Pathol Lab, Bethesda, MD USA. Natl Canc Inst, Natl Inst Hlth, Urolog Oncol Branch, Bethesda, MD USA. Tech Univ Munich, Inst Pathol, Munich, Germany. Univ Manitoba, Dept Pediat & Child Hlth, Winnipeg, MB R3T 2N2, Canada. Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB R3T 2N2, Canada. Schmidt LS Natl Canc Inst, Intramural Res Support Program, IRSP, SAIC, Bldg 560, Room 12-69, Frederick, MD 21702 USA.
    1. Year: 2001
  2. Journal: American Journal of Human Genetics
    1. 69
    2. 4
    3. Pages: 876-882
  4. Type of Article: Article
  1. Abstract:

    Birt-Hogg-Dube' syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. To identify the BHD locus, we recruited families with cutaneous lesions and associated phenotypic features of the BHD syndrome. We performed a genomewide scan in one large kindred with BHD and, by linkage analysis, localized the gene locus to the pericentromeric region of chromosome 17p, with a LOD score of 4.98 at D17S740 (recombination fraction 0). Two-point linkage analysis of eight additional families with BHD produced a maximum LOD score of 16.06 at D17S2196. Haplotype analysis identified critical recombinants and defined the minimal region of nonrecombination as being within a <4-cM distance between D17S1857 and D17S805. One additional family, which had histologically proved fibrofolliculomas, did not show evidence of linkage to chromosome 17p, suggesting genetic heterogeneity for BHD. The BHD locus lies within chromosomal band 17p11.2, a genomic region that, because of the presence of low-copy-number repeat elements, is unstable and that is associated with a number of diseases. Identification of the gene for BHD may reveal a new genetic locus responsible for renal neoplasia and for lung and hair-follicle developmental defects.

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