Nickerson Michael L, Warren Michelle B, Toro Jorge R, Matrosova Vera, Glenn Gladys, Turner Maria L, Duray Paul, Merino Maria, Choyke Peter, Pavlovich Christian P, Sharma Nirmala, Walther McClellan, Munroe David, Hill Rob, Maher Eamonn, Greenberg Cheryl, Lerman Michael I, Linehan W Marston, Zbar Berton, Schmidt Laura S
Laboratory of Immunobiology, Center for Cancer Research, SAIC-Frederick, Inc., National Center for Cancer Research, Frederick, MD 21702, USA.
Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6.
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 C(8) 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.
Birt-Hogg-Dubé（BHD）综合征是一种罕见的遗传性基因皮肤病，其特征为毛囊错构瘤、肾肿瘤和自发性气胸。对BHD家族进行的重组定位将易感基因座定位于17号染色体p11.2上700 kb的区域。在一组BHD家族的一个新候选基因中鉴定出蛋白质截短突变，在一个高度可变的C（8）序列中插入/缺失突变的频率为44%。3.8 kb转录本的组织表达广泛，包括肾脏、肺和皮肤。全长BHD序列预测了一种新的蛋白质——卵泡抑素，该蛋白在物种间高度保守。在BHD（一种与肾嗜酸细胞瘤或嫌色性肾癌相关的新型肾癌基因）中发现致病突变，将有助于理解卵泡抑素在皮肤、肺和肾脏发育共同通路中的作用。
