Familial spontaneous pneumothorax.

Familial spontaneous pneumothorax. Research Abstract Details 

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Familial spontaneous pneumothorax. Abstract Text:

Hsienchang Thomas Chiu,Christine Kim Garcia,

PURPOSE OF REVIEW: Over 10% of patients with primary spontaneous pneumothorax report a positive family history of the disease. While some cases can be attributed to rare inherited connective tissue diseases, several families with familial spontaneous pneumothorax have been described that do not show clinical evidence of these monogenic disorders. Until recently the molecular underpinning of this disease was unknown. RECENT FINDINGS: In the last 18 months, mutations in the gene encoding folliculin (FLCN) have been identified in individuals with familial spontaneous pneumothorax. Mutations in this gene were known previously to cause a rare skin disease, Birt-Hogg-Dubé syndrome, an autosomal dominantly inherited disease characterized by benign skin tumors, diverse types of renal cancer, pulmonary cysts, and spontaneous pneumothorax. Two animal models and studies of renal cancers support a tumor-suppressor function for folliculin. The presence of thin-walled cysts in basilar and subpleural locations of the lung is a feature of this disease. Most families display reduced penetrance of the pneumothorax phenotype. Several individuals with a family history of spontaneous pneumothorax have a mutation in the folliculin gene. SUMMARY: A significant fraction of families with familial spontaneous pneumothorax have mutations in the folliculin gene and should be considered a forme fruste of Birt-Hogg-Dubé syndrome.

Familial spontaneous pneumothorax. Publishing Authors By Initials

HT Chiu,CK Garcia,

For similar proteins: neoplasm proteins: tumor suppressor proteins research abstracts see: proteins: neoplasm proteins: tumor suppressor proteins research

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Familial spontaneous pneumothorax. Journal Published:

PUBLICATION TYPE: Review

Journal: Current opinion in pulmonary medicine

VOLUME: 12

Page Numbers: 268-72

Journal Abbreviation:

ISSN: 1070-5287

DAY: 3

MONTH: Jul

YEAR: 2006

Familial spontaneous pneumothorax. Information

Number of References: 50

LANGUAGE: eng

NlmUniqueID: 9503765

Familial spontaneous pneumothorax. Keywords Mesh Terms:

KEYWORDS: Tumor Suppressor Proteins

MESH TERMS: genetics

Chemical & Substance for Abstract: Familial spontaneous pneumothorax. Information

Substance Name: Tumor Suppressor Proteins

Registry Number: 0

Grant and Affiliation Information for Familial spontaneous pneumothorax.

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

Country: United States

AGENCY: United States NCRR

GRANT: IK23RR02063201

ACRONYM: RR

MEDLINETA: Curr Opin Pulm Med

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