Journal of Chest Surgery

The Korean Society for Thoracic and Cardiovascular Surgery (대한심장혈관흉부외과학회)
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Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

  • Kim, Kyung Soo (Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Choi, Hang Jun (Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Jang, Woori (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Chae, Hyojin (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Kim, Myungshin (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Moon, Seok Whan (Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
  • Received : 2016.10.24
  • Accepted : 2016.11.14
  • Published : 2017.10.05
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Abstract

$Birt-Hogg-Dub{\acute{e}}$ syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: $p.(Arg379^*)$ in FLCN.

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References

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