title: A Novel FLCN c.1489_1490delTG Mutation that Escapes the Nonsense-Mediated Decay System.
abstract: A novel FLCN c.1489_1490delTG (p.Val497Glyfs*22) mutation at the genomic DNA and mRNA levels was identified in a 43-year-old woman with complaining of recurrent primary spontaneous pneumothorax. The aberrant FLCN mRNA escaped the nonsense-mediated decay system (NMD) because of a premature termination code located in an NMD-incompetent region. To the best of our knowledge, this is the first case report of an FLCN mutation escaping the NMD.
authors.affiliation: Department of Emergency Medicine, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: Yong-Jin
authors.initials: YJ
authors.lastname: Park
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: Seog-Ki
authors.initials: SK
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: Seong-Ho
authors.initials: SH
authors.lastname: Kang
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: Sook-Jin
authors.initials: SJ
authors.lastname: Jang
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: Dae-Soo
authors.initials: DS
authors.lastname: Moon
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea creatgeon@chosun.ac.kr creatgun@naver.com.
authors.forename: Geon
authors.initials: G
authors.lastname: Park
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D059365:Nonsense Mediated mRNA Decay / Q000235:genetics*; D011030:Pneumothorax / Q000000981:diagnostic imaging / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: FLCN; Primary spontaneous pneumothorax; nonsense-mediated decay