Browse > Article
http://dx.doi.org/10.5090/kjtcs.2010.43.6.824

A Case of Primary Spontaneous Pneumothorax with a Three Nucleotide Deletion Mutation of the FLCN Gene  

Park, Geon (Department of Laboratory Medicine, Chosun University School of Medicine)
Seo, Hong-Joo (Department of Thoracic and Cardiovascular Surgery, Chosun University School of Medicine)
Jang, Sook-Jin (Department of Laboratory Medicine, Chosun University School of Medicine)
Shin, Bong-Seok (Department of Dermatology, Chosun University School of Medicine)
Hong, Ran (Department of Pathology, Chosun University School of Medicine)
Lee, Seog-Ki (Department of Thoracic and Cardiovascular Surgery, Chosun University School of Medicine)
Publication Information
Journal of Chest Surgery / v.43, no.6, 2010 , pp. 824-828 More about this Journal
Abstract
The cause of primary spontaneous pneumothorax (PSP) is obvious. Recently, the FLCN mutation was suggested to be a causal factor in PSP. A 47-year-old Korean male patient with chief complaint of repetitive PSP had numerous emphysematous bullae and multiple large cysts based upon high resolution computer tomography. Here we report a case of PSP with an FLCN c.468_470delTTC mutation.
Keywords
Pneumothorax; FLCN;
Citations & Related Records
Times Cited By KSCI : 1  (Citation Analysis)
연도 인용수 순위
1 Lee HJ, Lee G, Lim CY. Influence of change of atmospheric pressure and temperature on the occurrence of spontaneous pneumothorax. Korean J Thorac Cardiovasc Surg 2007;40:122-7.   과학기술학회마을
2 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;76:522-7.   DOI   ScienceOn
3 Ren HZ, Zhu CC, Yang C, et al. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. Clin Genet 2008;74:178-83.   DOI   ScienceOn
4 Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999; 135:1195-202.   DOI   ScienceOn
5 Noppen M, De Keukeleire T. Pneumothorax. Respiration 2008;76:121-7.   DOI   ScienceOn
6 Kim EH, Jeong SY, Kim HJ, Kim YC. A case of birt- hogg-dube syndrome. J Korean Med Sci 2008;23:332-5.   DOI   ScienceOn
7 Hasumi Y, Baba M, Ajima R, et al. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci U S A 2009;106:18722-7.   DOI   ScienceOn
8 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;2:157-64.   DOI   ScienceOn