title: Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.
abstract: BACKGROUND
  Familial spontaneous pneumothorax is one of the characteristics of Birt-Hogg-Dubé syndrome (BHDS), which is an autosomal dominant disease caused by the mutation of folliculin (FLCN).
  
  
  OBJECTIVE
  To investigate the mutation of FLCN gene in a familial spontaneous pneumothorax.
  
  
  METHODS
  Prospective case study.
  
  
  METHODS
  Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skin lesions or renal tumors were collected. CT scan of patient's lung was applied for observation of pneumothorax. DNA sequencing of the coding exons (4-14 exons) of FLCN was performed for all 11 members of the family and 100 unrelated healthy controls.
  
  
  RESULTS
  CT scan of patient's lung showed spontaneous pneumothorax. A mutation (c. 510C > G) that leads to a premature stop codon (p. Y170X) was found in the proband using DNA sequencing of coding exons (4-14 exons) of FLCN. This mutation was also observed in the other affected members of the family.
  
  
  CONCLUSIONS
  A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. Our results expand the mutational spectrum of FLCN in patients with BHDS.
authors.affiliation: From the Central Laboratory, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, P.R. China.
authors.forename: J-F
authors.initials: JF
authors.lastname: Zhu
authors.affiliation: Department of Cardiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, People's Republic of China.
authors.forename: X-Q
authors.initials: XQ
authors.lastname: Shen
authors.affiliation: Department of Cardiology.
authors.forename: F
authors.initials: F
authors.lastname: Zhu
authors.affiliation: Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, People's Republic of China.
authors.forename: L
authors.initials: L
authors.lastname: Tian
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000150:complications*; D016022:Case-Control Studies; D018389:Codon, Nonsense; D006801:Humans; D010375:Pedigree; D011030:Pneumothorax / Q000000981:diagnostic imaging / Q000235:genetics*; D011446:Prospective Studies; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins