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

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• 作者：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 Walthe
• 刊名：Cancer Cell
• 出版年：2002
• 出版时间：August 2002
• 年：2002
• 卷：2
• 期：2
• 页码：157-164
• 全文大小：436 K

文摘

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.