Kim Kyung Soo, Choi Hang Jun, Jang Woori, Chae Hyojin, Kim Myungshin, Moon Seok Whan
Departments of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.
Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.
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 (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of 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 .
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的常染色体显性遗传病，表现为皮肤肿瘤、肺囊性病变和肾肿瘤。位于17号染色体p11.2上的一种突变，该突变编码一种肿瘤抑制蛋白（卵泡抑素），是BHDS发病的原因。我们报告了一例出现自发性气胸的患者，对其进行的家族基因研究发现了一种新的无义突变：在[相关基因]中的p.(Arg379*)。
