A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dube syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.

ABSTRACT:

Rationale

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. Tumors caused by FLCN mutations are frequently benign and develop in skin, lungs, kidney, and other organs, leading to a variety of phenotypes that make early diagnoses of BHD challenging.

Patient concerns

A 51-year-old female was admitted to Shanghai Seventh People Hospital due to chest congestion and dyspnea that had persisted for 3 years and aggravated for 1 month. She had been diagnosed with pneumothorax prior to this submission, but the etiology was unknown.

Diagnoses

Chest computed tomography (CT) revealed multiple pulmonary cysts and pneumothorax, and her family members shared similar manifestation. Whole-exome seq

SUBMITTER: Xiao H 

PROVIDER: S-EPMC10328714 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature