Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Abstract

TGFBR2 mutations that cause Loeys-Dietz Syndrome can present as pneumothorax. In vitro kinase assays can help confirm pathogenicity of novel variants.SJM is an MRC Senior Clinical FellowThis is the author accepted manuscript. The final version is available from the European Respiratory Society via http://dx.doi.org/10.1183/13993003.00952-201