Respiratory Medicine Case Reports (Jan 2022)

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

Journal volume & issue
Vol. 40
p. 101757

Abstract

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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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