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A novel FLCN gene mutation causing Birt-Hogg-Dubé syndrome in a Korean family
Jiyeon Bae1, Jungwon Huh2, Sung Shine Shim3
1Department of Internal Medicine, Ewha Womans University College of Medicine, Seoul, Republic of Korea.
Abstract:
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.
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