TY - JOUR
T1 - 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
AU - Nickerson, Michael L.
AU - Warren, Michelle B.
AU - Toro, Jorge R.
AU - Matrosova, Vera
AU - Glenn, Gladys
AU - Turner, Maria L.
AU - Duray, Paul
AU - Merino, Maria
AU - Choyke, Peter
AU - Pavlovich, Christian P.
AU - Sharma, Nirmala
AU - Walther, McClellan
AU - Munroe, David
AU - Hill, Rob
AU - Maher, Eamonn
AU - Greenberg, Cheryl
AU - Lerman, Michael I.
AU - Linehan, W. Marston
AU - Zbar, Berton
AU - Schmidt, Laura S.
N1 - Funding Information:
This publication has been funded in whole or in part with Federal funds from the National Cancer Institute, National Institutes of Health, under Contract No.N01-C0-12400. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U. S. Government.
PY - 2002/8
Y1 - 2002/8
N2 - 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.
AB - 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.
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U2 - 10.1016/S1535-6108(02)00104-6
DO - 10.1016/S1535-6108(02)00104-6
M3 - Article
C2 - 12204536
AN - SCOPUS:0000939691
SN - 1535-6108
VL - 2
SP - 157
EP - 164
JO - Cancer cell
JF - Cancer cell
IS - 2
ER -