Clinical and genetic spectrum of Birt-Hogg-Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 281-287

  Kunogi, Makiko ^a,b   Kurihara, Masatoshi ^b,c   Ikegami, Takako Shigihara ^d   Kobayashi, Toshiyuki ^a   Shindo, Noriko ^d   Kumasaka, Toshio ^b,e   Gunji, Yoko ^a,b   Kikkawa, Mika ^d   Iwakami, Shin Ichiro ^f   Hino, Okio ^a   Takahashi, Kazuhisa ^a   Seyama, Kuniaki ^a,b  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Study Group of Pneumothorax and Cystic Lung Diseases   (Japan)

^c Nissan Tamagawa Hospital   (Japan)

^d JUNTENDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e JAPANESE RED CROSS MEDICAL CENTER   (Japan)

^f JUNTENDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BIRT HOGG DUBE SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HUMAN; HUMAN TISSUE; LUNG CYST; MALE; PHENOTYPE; PNEUMOTHORAX; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCREENING;

ADULT; AGED; AGED, 80 AND OVER; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME DISORDERS; CYSTS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENE DOSAGE; HUMANS; LUNG DISEASES; MALE; MIDDLE AGED; MUTATION; PNEUMOTHORAX; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; SKIN DISEASES; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 77951520377     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.070565     Document Type: Article

References (31)

1. Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-1677
2. Vincent A, Farley M, Chan E, et al. Birt-Hogg-Dube syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol 2003;49:698-705. (Pubitemid 37210285)
3. Roth JS, Rabinowitz AD, Benson M, et al. Bilateral renal cell carcinoma in the Birt-Hogg-Dube syndrome. J Am Acad Dermatol 1993;29:1055-1056 (Pubitemid 23360351)
4. Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999;135:1195-1202 (Pubitemid 29493279)
5. Binet O, Audefray D, Beltzer-Garelly E, et al. [Haber's syndrome. First French family (2 cases)]. Ann Dermatol Venereol 1986;113:43-50. (Pubitemid 16167333)
6. Zbar B, Alvord WG, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 2002;11:393-400. (Pubitemid 34408219)
7. Nickerson ML, Warren MB, Toro JR, et al. 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-Dube syndrome. Cancer Cell 2002;2:157-164
8. Vocke CD, Yang Y, Pavlovich CP, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 2005;97:931-935 (Pubitemid 41417945)
9. Graham RB, Nolasco M, Peterlin B, et al. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 2005;172:39-44. (Pubitemid 40923312)
10. Gunji Y, Akiyoshi T, Sato T, et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 2007;44:588-593 (Pubitemid 47441768)
11. Painter JN, Tapanainen H, Somer M, et al. A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet 2005;76:522-527 (Pubitemid 40250532)
12. Bessis D, Giraud S, Richard S. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dube syndrome. Br J Dermatol 2006;155:1067-1069 (Pubitemid 44564524)
13. Hoebeeck J, van der Luijt R, Poppe B, et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest 2005;85:24-33. (Pubitemid 40128038)
14. Damgaard D, Nissen PH, Jensen LG, et al. Detection of large deletions in the LDL receptor gene with quantitative PCR methods. BMC Med Genet 2005;6:15. (Pubitemid 41418155)
15. Johansson AM, Hillarp A, Sall T, et al. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 2005;94:951-957 (Pubitemid 41645933)
16. Eddy CA, MacCormick JM, Chung SK, et al. Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm 2008;5:1275-1281
17. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
18. Ishii H, Oka H, Amemiya Y, et al. A Japanese family with multiple lung cysts and recurrent pneumothorax: a possibility of Birt-Hogg-Dubé syndrome. Int Med 2009;48:1413-1417
19. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 2005;76:1023-1033
20. Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008;45:321-331
21. Wei MH, Blake PW, Shevchenko J, et al. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dube syndrome. Hum Mutat 2009;30:E880-90.
22. Hattori K, Teranishi J, Stolle C, et al. Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease. Cancer Sci 2006;97:400-405
23. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
24. Baba M, Hong SB, Sharma N, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A 2006;103:15552-15557 (Pubitemid 44625630)
25. Takagi Y, Kobayashi T, Shiono M, et al. Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. Oncogene 2008;27:5339-5347
26. Hasumi H, Baba M, Hong SB, et al. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene 2008;415:60-67
27. Plawski A, Slomski R. APC gene mutations causing familial adenomatous polyposis in Polish patients. J Appl Genet 2008;49:407-414
28. Gavert N, Yaron Y, Naiman T, et al. Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. Hum Mutat 2002;19:664.
29. Pal T, Permuth-Wey J, Holtje T, et al. BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. Cancer Epidemiol Biomarkers Prev 2004;13 (11 Pt 1):1794-1799 (Pubitemid 39482958)
30. Shen D, Wu Y, Subbarao M, et al. Mutation analysis of BRCA1 gene in African-American patients with breast cancer. J Natl Med Assoc 2000;92:29e35.
31. Tobino K, Gunji Y, Kurihara M, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: Thin-section CT findings of the chest in 12 patients. Eur J Radiol 2009 Sep 24. [Epub ahead of print].