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Related Experiment Videos

Familial spontaneous pneumothorax.

Hsienchang Thomas Chiu1, Christine Kim Garcia

  • 1Department of Internal Medicine, Division of Pulmonary Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8591, USA.

Current Opinion in Pulmonary Medicine
|July 11, 2006
PubMed
Summary
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Familial spontaneous pneumothorax is linked to mutations in the folliculin (FLCN) gene. These findings suggest a connection to Birt-Hogg-Dubé syndrome, a condition with skin tumors and kidney cancer.

Area of Science:

  • Genetics
  • Pulmonology
  • Oncology

Background:

  • Primary spontaneous pneumothorax (PSP) has a familial component in over 10% of cases.
  • While some familial PSP is linked to inherited connective tissue disorders, many families lack a clear genetic cause.
  • The molecular basis for familial PSP remained largely unknown until recently.

Purpose of the Study:

  • To investigate the genetic underpinnings of familial spontaneous pneumothorax.
  • To identify novel genetic mutations associated with hereditary forms of pneumothorax.
  • To explore the relationship between familial PSP and known genetic syndromes.

Main Methods:

  • Genetic analysis of individuals and families with a history of spontaneous pneumothorax.
  • Review of recent literature identifying gene mutations associated with familial PSP.

Related Experiment Videos

  • Comparative analysis of clinical features in patients with identified mutations.

    • Main Results:

    • Mutations in the folliculin (FLCN) gene were identified in individuals with familial spontaneous pneumothorax.
    • FLCN mutations are known to cause Birt-Hogg-Dubé syndrome, characterized by skin tumors, renal cancer, and lung cysts.
    • Pulmonary cysts, particularly thin-walled ones in the lung bases, are a feature in affected individuals.
    • Reduced penetrance of the pneumothorax phenotype was observed in most families.

    Conclusions:

    • A significant proportion of familial spontaneous pneumothorax cases are associated with FLCN gene mutations.
    • Familial spontaneous pneumothorax should be considered a forme fruste (an incomplete or atypical form) of Birt-Hogg-Dubé syndrome.
    • Identification of FLCN mutations provides a molecular explanation for a subset of hereditary pneumothorax.