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

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 Walther; David Munroe; Rob Hill; Eamonn Maher; Cheryl Greenberg; Michael I. Lerman; W. Marston Linehan; Berton Zbar; Laura S. Schmidt

doi:10.1016/s1535-6108(02)00104-6

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

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 Walther, David Munroe, Rob Hill, Eamonn Maher, Cheryl Greenberg, Michael I. Lerman, W. Marston Linehan, Berton Zbar, Laura S. Schmidt

Aston Medical School

Research output: Contribution to journal › Article › peer-review

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 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.

Original language	English
Pages (from-to)	157-64
Number of pages	8
Journal	Cancer cell
Volume	2
Issue number	2
DOIs	https://doi.org/10.1016/s1535-6108(02)00104-6
Publication status	Published - Aug 2002

Keywords

Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 17/genetics
Conserved Sequence
DNA Mutational Analysis
Estrone/chemistry
Exons/genetics
Female
Frameshift Mutation/genetics
Genetic Predisposition to Disease
Hair Follicle/pathology
Hamartoma/genetics
Humans
Kidney Neoplasms/genetics
Male
Molecular Sequence Data
Mutation/genetics
Pedigree
Physical Chromosome Mapping
Pneumothorax/genetics
RNA, Messenger/genetics
Syndrome

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10.1016/s1535-6108(02)00104-6

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Nickerson, M. L., Warren, M. B., Toro, J. R., Matrosova, V., Glenn, G., Turner, M. L., Duray, P., Merino, M., Choyke, P., Pavlovich, C. P., Sharma, N., Walther, M., Munroe, D., Hill, R., Maher, E., Greenberg, C., Lerman, M. I., Linehan, W. M., Zbar, B., & Schmidt, L. S. (2002). 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. Cancer cell, 2(2), 157-64. https://doi.org/10.1016/s1535-6108(02)00104-6

@article{6891a635befd46c98e6f3832962fde21,

title = "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-Dub{\'e} syndrome",

abstract = "Birt-Hogg-Dub{\'e} (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.",

keywords = "Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 17/genetics, Conserved Sequence, DNA Mutational Analysis, Estrone/chemistry, Exons/genetics, Female, Frameshift Mutation/genetics, Genetic Predisposition to Disease, Hair Follicle/pathology, Hamartoma/genetics, Humans, Kidney Neoplasms/genetics, Male, Molecular Sequence Data, Mutation/genetics, Pedigree, Physical Chromosome Mapping, Pneumothorax/genetics, RNA, Messenger/genetics, Syndrome",

author = "Nickerson, {Michael L} and Warren, {Michelle B.} and Toro, {Jorge R.} and Vera Matrosova and Gladys Glenn and Turner, {Maria L.} and Paul Duray and Maria Merino and Peter Choyke and Pavlovich, {Christian P.} and Nirmala Sharma and McClellan Walther and David Munroe and Rob Hill and Eamonn Maher and Cheryl Greenberg and Lerman, {Michael I.} and Linehan, {W. Marston} and Berton Zbar and Schmidt, {Laura S.}",

year = "2002",

month = aug,

doi = "10.1016/s1535-6108(02)00104-6",

language = "English",

volume = "2",

pages = "157--64",

number = "2",

}

Nickerson, ML, Warren, MB, Toro, JR, Matrosova, V, Glenn, G, Turner, ML, Duray, P, Merino, M, Choyke, P, Pavlovich, CP, Sharma, N, Walther, M, Munroe, D, Hill, R, Maher, E, Greenberg, C, Lerman, MI, Linehan, WM, Zbar, B & Schmidt, LS 2002, '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', Cancer cell, vol. 2, no. 2, pp. 157-64. https://doi.org/10.1016/s1535-6108(02)00104-6

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.

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 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.

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 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.

KW - Amino Acid Sequence

KW - Base Sequence

KW - Chromosomes, Human, Pair 17/genetics

KW - Conserved Sequence

KW - DNA Mutational Analysis

KW - Estrone/chemistry

KW - Exons/genetics

KW - Female

KW - Frameshift Mutation/genetics

KW - Genetic Predisposition to Disease

KW - Hair Follicle/pathology

KW - Hamartoma/genetics

KW - Humans

KW - Kidney Neoplasms/genetics

KW - Male

KW - Molecular Sequence Data

KW - Mutation/genetics

KW - Pedigree

KW - Physical Chromosome Mapping

KW - Pneumothorax/genetics

KW - RNA, Messenger/genetics

KW - Syndrome

UR - https://www.sciencedirect.com/science/article/pii/S1535610802001046

U2 - 10.1016/s1535-6108(02)00104-6

DO - 10.1016/s1535-6108(02)00104-6

M3 - Article

C2 - 12204536

SN - 1535-6108

VL - 2

SP - 157

EP - 164

JO - Cancer cell

JF - Cancer cell

IS - 2

ER -

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

Abstract

Keywords

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