A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family. (2022)

• Record Type: Journal Article
• Authors: Bae, Jiyeon; Huh, Jungwon; Shim, Sung Shine; Park, Heae Surng; Ryu, Yon Ju
• Is Part Of: Respiratory medicine case reports. Volume 40(2022)
• Publication Date: 2022
• Subjects: Birt–Hogg–Dubé syndrome -- Cystic lung disease -- FLCN gene -- Genetic study -- Pneumothorax; BHD syndrome Birt–Hogg–Dubé syndrome -- FLCN gene folliculin gene -- LAM lymphangioleiomyomatosis; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2022.101757
• Languages: English
• ISSNs: 2213-0071

Abstract

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.