A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.

ABSTRACT:

Background

Primary spontaneous pneumothorax (PSP) is a disease characterized by the accumulation of air in the pleural space between the lung and thoracic wall. It is more common in young, tall, thin, and asthenic men. A family history was reported for approximately 11.5% of individuals admitted with PSP. The literature has reported cases diagnosed with familial PSP, who have no manifestations of Birt-Hogg-Dubé (BHD) syndrome but mutations in different exons of the Folliculin (FLCN) gene. The aim of this study is to present a Turkish family in which 13 members from three generations of the same family developed recurrent isolated spontaneous pneumothorax with a novel mutation in the FLCN.

Methods

A male proband was diagnosed with spontaneous pneumothorax in the emergency dep

SUBMITTER: Genc Yavuz B 

PROVIDER: S-EPMC6900392 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature