{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T05:44:34Z","timestamp":1768455874214,"version":"3.49.0"},"reference-count":23,"publisher":"European Respiratory Society (ERS)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2008,6,12]]},"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:p>Spontaneous pneumothorax is mostly sporadic but may also occur in families with genetic disorders, such as Birt\u2013Hogg\u2013Dub\u00e9 syndrome, which is caused by mutations in the folliculin (<jats:italic>FLCN<\/jats:italic>) gene.<\/jats:p><jats:p>The aim of the present study was to investigate the presence and type of mutation in a Swiss pedigree and in a sporadic case. Clinical examination, lung function tests and high-resolution computed tomography were performed. All coding exons and flanking intronic regions of<jats:italic>FLCN<\/jats:italic>were amplified by PCR and directly sequenced. The amount of<jats:italic>FLCN<\/jats:italic>transcripts was determined by quantitative real-time RT-PCR.<\/jats:p><jats:p>Two novel mutations in<jats:italic>FLCN<\/jats:italic>were identified. Three investigated family members with a history of at least one spontaneous pneumothorax were heterozygous for a single nucleotide substitution (c.779G&gt;A) that leads to a premature stop codon (p.W260X). Quantitative real-time RT-PCR revealed a reduction of<jats:italic>FLCN<\/jats:italic>transcripts from the patient compared with an unaffected family member. DNA from the sporadic case carried a heterozygous missense mutation (c.394G&gt;A). Lung function of this patient was normal and computed tomography showed similar bilateral cysts, as observed in the two members of the unrelated Swiss family.<\/jats:p><jats:p>Mutations in the folliculin gene are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to spontaneous pneumothorax.<\/jats:p>","DOI":"10.1183\/09031936.00132707","type":"journal-article","created":{"date-parts":[[2008,6,26]],"date-time":"2008-06-26T00:25:14Z","timestamp":1214439914000},"page":"1316-1320","source":"Crossref","is-referenced-by-count":44,"title":["Novel mutations in the folliculin gene associated with spontaneous pneumothorax"],"prefix":"10.1183","volume":"32","author":[{"given":"B. 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