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• W1986249875 abstract "Spontaneous pneumothorax is mostly sporadic but may also occur in families with genetic disorders, such as Birt–Hogg–Dubé syndrome, which is caused by mutations in the folliculin (<i>FLCN</i>) gene. 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 <i>FLCN</i> were amplified by PCR and directly sequenced. The amount of <i>FLCN</i> transcripts was determined by quantitative real-time RT-PCR. Two novel mutations in <i>FLCN</i> were identified. Three investigated family members with a history of at least one spontaneous pneumothorax were heterozygous for a single nucleotide substitution (c.779G>A) that leads to a premature stop codon (p.W260X). Quantitative real-time RT-PCR revealed a reduction of <i>FLCN</i> transcripts from the patient compared with an unaffected family member. DNA from the sporadic case carried a heterozygous missense mutation (c.394G>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. Mutations in the folliculin gene are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to spontaneous pneumothorax." @default.
• W1986249875 created "2016-06-24" @default.
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• W1986249875 date "2008-11-01" @default.
• W1986249875 modified "2023-10-17" @default.
• W1986249875 title "Novel mutations in the folliculin gene associated with spontaneous pneumothorax" @default.
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• W1986249875 doi "https://doi.org/10.1183/09031936.00132707" @default.
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