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Novel mutations in the folliculin gene associated with spontaneous pneumothorax


Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.

Abstract

Spontaneous pneumothorax (SP) is mostly sporadic but may also occur in families with genetic disorders such as Birt-Hogg-Dubé syndrome (BHDS), which is caused by mutations in the folliculin gene FLCN.To investigate the presence and type of mutation in a Swiss pedigree and in a sporadic case.Clinical examination, lung function tests and HRCT. All coding exons and flanking intronic regions of FLCN were amplified by PCR and directly sequenced. The amount of FLCN transcripts was determined by quantitative real-time RT-PCR.We identified two novel mutations in FLCN. Three investigated family members with a history of at least one SP 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 FLCN transcripts from the patient compared to 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 the CT showed similar bilateral cysts as observed in the two members of the unrelated Swiss family.Mutations in FLCN are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to SP.

Abstract

Spontaneous pneumothorax (SP) is mostly sporadic but may also occur in families with genetic disorders such as Birt-Hogg-Dubé syndrome (BHDS), which is caused by mutations in the folliculin gene FLCN.To investigate the presence and type of mutation in a Swiss pedigree and in a sporadic case.Clinical examination, lung function tests and HRCT. All coding exons and flanking intronic regions of FLCN were amplified by PCR and directly sequenced. The amount of FLCN transcripts was determined by quantitative real-time RT-PCR.We identified two novel mutations in FLCN. Three investigated family members with a history of at least one SP 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 FLCN transcripts from the patient compared to 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 the CT showed similar bilateral cysts as observed in the two members of the unrelated Swiss family.Mutations in FLCN are associated with cystic lung lesions in an otherwise morphological normal lung and predispose to SP.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Pneumology
04 Faculty of Medicine > Institute of Medical Molecular Genetics
04 Faculty of Medicine > University Hospital Zurich > Clinic for Diagnostic and Interventional Radiology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:November 2008
Deposited On:27 Oct 2008 13:29
Last Modified:13 Sep 2016 07:28
Publisher:European Respiratory Society
ISSN:0903-1936
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1183/09031936.00132707
PubMed ID:18579543

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