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Korean J Thorac Cardiovasc Surg. 2017 Oct;50(5):386-390. doi: 10.5090/kjtcs.2017.50.5.386. Epub 2017 Oct 5.

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene.

Author information

1
Departments of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.
2
Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.
3
Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.

Abstract

Birt-Hogg-Dubé 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.

KEYWORDS:

Birt-Hogg-Dubé syndrome; FLCN; Pneumothorax; Thoracoscopy; Video-assisted thoracic surgery

Conflict of interest statement

Conflict of interest No potential conflict of interest relevant to this article was reported.

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