Via standard bioinformatics analysis and variant annotation (reference human genome GRCh37/hg19),[16] we determined that the recurrent pneumothorax is most likely caused by a heterozygous splicing mutation in the FLCN gene (c.1432 + 1G > A; rs755959303), which was further confirmed by Sanger sequencing (Fig. 2E). The gene discussed is FLCN; the disease is pneumothorax.