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Birt-Hogg-Dube Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene.


ABSTRACT: Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.

SUBMITTER: Kim KS 

PROVIDER: S-EPMC5628968 | BioStudies | 2017-01-01

REPOSITORIES: biostudies

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