A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
In: Respir Med Case Rep, 2022
academicJournal
Zugriff:
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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A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
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Autor/in / Beteiligte Person: | Bae, Jiyeon ; Huh, Jungwon ; Shim, Sung Shine ; Park, Heae Surng ; Ryu, Yon Ju |
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Zeitschrift: | Respir Med Case Rep, 2022 |
Veröffentlichung: | Elsevier, 2022 |
Medientyp: | academicJournal |
DOI: | 10.1016/j.rmcr.2022.101757 |
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