Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene.
10.5090/kjtcs.2017.50.5.386
- Author:
Kyung Soo KIM
1
;
Hang Jun CHOI
;
Woori JANG
;
Hyojin CHAE
;
Myungshin KIM
;
Seok Whan MOON
Author Information
1. Departments of Thoracic and Cardiovascular Surgery, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Korea. swmoon@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Birt-Hogg-Dubé syndrome;
Pneumothorax;
FLCN;
Thoracoscopy;
Video-assisted thoracic surgery
- MeSH:
Birt-Hogg-Dube Syndrome*;
Codon, Nonsense;
Estrone*;
Humans;
Pneumothorax*;
Rare Diseases;
Skin;
Thoracic Surgery, Video-Assisted;
Thoracoscopy;
Wills
- From:The Korean Journal of Thoracic and Cardiovascular Surgery
2017;50(5):386-390
- CountryRepublic of Korea
- Language:English
-
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.
