A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family

Spontaneous pneumothorax is a common manifestation of Birt–Hogg–Dubé (BHD) syndrome, an inherited disorder caused by mutation of the folliculin (FLCN) gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumothorax. Chest CT showed multiple cysts with left lung p...

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Bibliographic Details
Published inRespiratory medicine case reports Vol. 40; p. 101757
Main Authors Bae, Jiyeon, Huh, Jungwon, Shim, Sung Shine, Park, Heae Surng, Ryu, Yon Ju
Format Journal Article
LanguageEnglish
Published Elsevier Ltd 01.01.2022
Elsevier
Subjects
Birt–Hogg–Dubé syndrome
Case Report
Cystic lung disease
FLCN gene
Genetic study
Pneumothorax
BHD syndrome
Pneumothorax
Cystic lung disease
LAM
FLCN gene
Genetic study
Birt–Hogg–Dubé syndrome
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Summary:Spontaneous pneumothorax is a common manifestation of Birt–Hogg–Dubé (BHD) syndrome, an inherited disorder caused by mutation of the folliculin (FLCN) gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumothorax. Chest CT showed multiple cysts with left lung pneumothorax, and she received surgery for the diagnosis. Because the patient also had a family history of spontaneous pneumothorax, a FLCN genetic examination was conducted. A novel heterozygous, likely pathogenic variant (NM_144997.5:c.779+2T > C) was detected in the proband, her mother, and aunt. This is the first report of a new mutation of FLCN gene in a BHD syndrome patient.
ISSN:2213-0071
2213-0071
DOI:10.1016/j.rmcr.2022.101757