Nonsense Mutations in Folliculin Presenting as Isolated Familial Spontaneous Pneumothorax in Adults

Abstract

Isolated familial spontaneous pneumothorax can be caused by mutations of the FLCN gene. Because development of a pneumothorax and/or pulmonary blebs may be the earliest or the only clinical manifestation of FLCN mutations, pulmonologists should be alert to the contribution of this gene toward this familial form of emphysema.