Title of article :
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
Author/Authors :
Nickerson، نويسنده , , Michael L. and Warren، نويسنده , , Michelle B. and Toro، نويسنده , , Jorge R. and Matrosova، نويسنده , , Vera and Glenn، نويسنده , , Gladys and Turner، نويسنده , , Maria L. and Duray، نويسنده , , Paul and Merino، نويسنده , , Maria and Choyke، نويسنده , , Peter and Pavlovich، نويسنده , , Christian P. and Sharma، نويسنده , , Nirmala and Walther، نويسنده , , McClellan and Munroe، نويسنده , , David and Hill، نويسنده , , Rob and Maher، نويسنده , , Eamonn and Greenberg، نويسنده , , Cheryl and Lerman، نويسنده , , Michael I. and Linehan، نويسنده , , W.Marston and Zbar، نويسنده , , Berton and Schmidt، نويسنده , , Laura S.، نويسنده ,
Abstract :
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.
