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

Jiyeon Bae; Jungwon Huh; Sung Shine Shim; Heae Surng Park; Yon Ju Ryu

doi:10.1016/j.rmcr.2022.101757

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

Respir Med Case Rep. 2022 Oct 25:40:101757. doi: 10.1016/j.rmcr.2022.101757. eCollection 2022.

Authors

Jiyeon Bae¹, Jungwon Huh², Sung Shine Shim³, Heae Surng Park⁴, Yon Ju Ryu⁵

Affiliations

¹ Department of Internal Medicine, Ewha Womans University College of Medicine, Seoul, Republic of Korea.
² Department of Laboratory Medicine, Ewha Womans University College of Medicine, Seoul, Republic of Korea.
³ Department of Diagnostic Radiology, Ewha Womans University Seoul Hospital, Seoul, Republic of Korea.
⁴ Department of Pathology, Ewha Womans University Seoul Hospital, Seoul, Republic of Korea.
⁵ Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, College of Medicine, Ewha Womans University, 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.

Keywords: BHD syndrome, Birt–Hogg–Dubé syndrome; Birt–Hogg–Dubé syndrome; Cystic lung disease; FLCN gene; FLCN gene, folliculin gene; Genetic study; LAM, lymphangioleiomyomatosis; Pneumothorax.

Publication types

Case Reports