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

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

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Abstract

Birt-Hogg-Dubé 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

Original languageEnglish (US)
Pages (from-to)876-882
Number of pages7
JournalAmerican Journal of Human Genetics
Volume69
Issue number4
DOIs
StatePublished - 2001
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics

Cite this

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., Glenn, G., Greenberg, C. R., Linehan, W. M., & Zbar, B. (2001). Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. American Journal of Human Genetics, 69(4), 876-882. https://doi.org/10.1086/323744