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

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 p...
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Autor*in:	Jiyeon Bae [verfasserIn] Jungwon Huh [verfasserIn] Sung Shine Shim [verfasserIn] Heae Surng Park [verfasserIn] Yon Ju Ryu [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax

Übergeordnetes Werk:	In: Respiratory Medicine Case Reports - Elsevier, 2015, 40(2022), Seite 101757-
Übergeordnetes Werk:	volume:40 ; year:2022 ; pages:101757-

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1016/j.rmcr.2022.101757

Katalog-ID:	DOAJ083775544

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520			\|a 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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publishDate	2022
allfields	10.1016/j.rmcr.2022.101757 doi (DE-627)DOAJ083775544 (DE-599)DOAJe4fc7287b19345439b7c0e4bbbee81fa DE-627 ger DE-627 rakwb eng RC705-779 Jiyeon Bae verfasserin aut A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax Diseases of the respiratory system Jungwon Huh verfasserin aut Sung Shine Shim verfasserin aut Heae Surng Park verfasserin aut Yon Ju Ryu verfasserin aut In Respiratory Medicine Case Reports Elsevier, 2015 40(2022), Seite 101757- (DE-627)718701410 (DE-600)2666110-X 22130071 nnns volume:40 year:2022 pages:101757- https://doi.org/10.1016/j.rmcr.2022.101757 kostenfrei https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa kostenfrei http://www.sciencedirect.com/science/article/pii/S2213007122001794 kostenfrei https://doaj.org/toc/2213-0071 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 40 2022 101757-
spelling	10.1016/j.rmcr.2022.101757 doi (DE-627)DOAJ083775544 (DE-599)DOAJe4fc7287b19345439b7c0e4bbbee81fa DE-627 ger DE-627 rakwb eng RC705-779 Jiyeon Bae verfasserin aut A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax Diseases of the respiratory system Jungwon Huh verfasserin aut Sung Shine Shim verfasserin aut Heae Surng Park verfasserin aut Yon Ju Ryu verfasserin aut In Respiratory Medicine Case Reports Elsevier, 2015 40(2022), Seite 101757- (DE-627)718701410 (DE-600)2666110-X 22130071 nnns volume:40 year:2022 pages:101757- https://doi.org/10.1016/j.rmcr.2022.101757 kostenfrei https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa kostenfrei http://www.sciencedirect.com/science/article/pii/S2213007122001794 kostenfrei https://doaj.org/toc/2213-0071 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 40 2022 101757-
allfields_unstemmed	10.1016/j.rmcr.2022.101757 doi (DE-627)DOAJ083775544 (DE-599)DOAJe4fc7287b19345439b7c0e4bbbee81fa DE-627 ger DE-627 rakwb eng RC705-779 Jiyeon Bae verfasserin aut A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax Diseases of the respiratory system Jungwon Huh verfasserin aut Sung Shine Shim verfasserin aut Heae Surng Park verfasserin aut Yon Ju Ryu verfasserin aut In Respiratory Medicine Case Reports Elsevier, 2015 40(2022), Seite 101757- (DE-627)718701410 (DE-600)2666110-X 22130071 nnns volume:40 year:2022 pages:101757- https://doi.org/10.1016/j.rmcr.2022.101757 kostenfrei https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa kostenfrei http://www.sciencedirect.com/science/article/pii/S2213007122001794 kostenfrei https://doaj.org/toc/2213-0071 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 40 2022 101757-
allfieldsGer	10.1016/j.rmcr.2022.101757 doi (DE-627)DOAJ083775544 (DE-599)DOAJe4fc7287b19345439b7c0e4bbbee81fa DE-627 ger DE-627 rakwb eng RC705-779 Jiyeon Bae verfasserin aut A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax Diseases of the respiratory system Jungwon Huh verfasserin aut Sung Shine Shim verfasserin aut Heae Surng Park verfasserin aut Yon Ju Ryu verfasserin aut In Respiratory Medicine Case Reports Elsevier, 2015 40(2022), Seite 101757- (DE-627)718701410 (DE-600)2666110-X 22130071 nnns volume:40 year:2022 pages:101757- https://doi.org/10.1016/j.rmcr.2022.101757 kostenfrei https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa kostenfrei http://www.sciencedirect.com/science/article/pii/S2213007122001794 kostenfrei https://doaj.org/toc/2213-0071 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 40 2022 101757-
allfieldsSound	10.1016/j.rmcr.2022.101757 doi (DE-627)DOAJ083775544 (DE-599)DOAJe4fc7287b19345439b7c0e4bbbee81fa DE-627 ger DE-627 rakwb eng RC705-779 Jiyeon Bae verfasserin aut A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax Diseases of the respiratory system Jungwon Huh verfasserin aut Sung Shine Shim verfasserin aut Heae Surng Park verfasserin aut Yon Ju Ryu verfasserin aut In Respiratory Medicine Case Reports Elsevier, 2015 40(2022), Seite 101757- (DE-627)718701410 (DE-600)2666110-X 22130071 nnns volume:40 year:2022 pages:101757- https://doi.org/10.1016/j.rmcr.2022.101757 kostenfrei https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa kostenfrei http://www.sciencedirect.com/science/article/pii/S2213007122001794 kostenfrei https://doaj.org/toc/2213-0071 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 40 2022 101757-
language	English
source	In Respiratory Medicine Case Reports 40(2022), Seite 101757- volume:40 year:2022 pages:101757-
sourceStr	In Respiratory Medicine Case Reports 40(2022), Seite 101757- volume:40 year:2022 pages:101757-
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax Diseases of the respiratory system
isfreeaccess_bool	true
container_title	Respiratory Medicine Case Reports
authorswithroles_txt_mv	Jiyeon Bae @@aut@@ Jungwon Huh @@aut@@ Sung Shine Shim @@aut@@ Heae Surng Park @@aut@@ Yon Ju Ryu @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	718701410
id	DOAJ083775544
language_de	englisch
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callnumber-first	R - Medicine
author	Jiyeon Bae
spellingShingle	Jiyeon Bae misc RC705-779 misc Birt–Hogg–Dubé syndrome misc Cystic lung disease misc FLCN gene misc Genetic study misc Pneumothorax misc Diseases of the respiratory system A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
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topic_title	RC705-779 A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family Birt–Hogg–Dubé syndrome Cystic lung disease FLCN gene Genetic study Pneumothorax
topic	misc RC705-779 misc Birt–Hogg–Dubé syndrome misc Cystic lung disease misc FLCN gene misc Genetic study misc Pneumothorax misc Diseases of the respiratory system
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title	A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
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title_full	A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
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author_browse	Jiyeon Bae Jungwon Huh Sung Shine Shim Heae Surng Park Yon Ju Ryu
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title_sort	novel flcn gene mutation causing birt–hogg–dubé syndrome in a korean family
callnumber	RC705-779
title_auth	A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
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.
abstractGer	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.
abstract_unstemmed	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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title_short	A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family
url	https://doi.org/10.1016/j.rmcr.2022.101757 https://doaj.org/article/e4fc7287b19345439b7c0e4bbbee81fa http://www.sciencedirect.com/science/article/pii/S2213007122001794 https://doaj.org/toc/2213-0071
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up_date	2024-07-03T19:23:01.990Z
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A novel FLCN gene mutation causing Birt–Hogg–Dubé syndrome in a Korean family

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