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Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

 Hye Jung Park  ;  Yong Jun Choi  ;  Chul Hwan Park  ;  Tae Hoon Kim  ;  Sung Soo Lee  ;  Duk Hwan Moon  ;  Kyung-A Lee  ;  Sang Eun Lee  ;  Moo Suk Park  ;  Song Yee Kim  ;  Yoon Soo Chang  ;  Seok Jeong Lee  ;  Ji Ye Jung  ;  Ji-Ho Lee  ;  Su Hwan Lee  ;  Taehee Kim  ;  Sung-Ryeol Kim  ;  Kangjoon Kim  ;  Min Kwang Byun 
 DIAGNOSTICS, Vol.13(12) : 2047, 2023-06 
Journal Title
Issue Date
Birt–Hogg–Dube syndrome ; chest computed tomography ; cystic lung disease ; folliculin gene (FLCN) mutation
Birt-Hogg-Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. We prospectively enrolled thirty-one subjects from four South Korean institutions with typical lung cysts, and next-generation sequencing was conducted. We prospectively enrolled thirty-one subjects from four Korean institutions with typical lung cysts. Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBLN5, LTBP4, and SERPINA1. BHD was diagnosed in 11 of the 31 enrolled subjects (35.5%; FLCN mutations). Notably, we identified three novel mutations (c.1098G>A, c.139G>T, and c.1335del) that have not been previously reported. In addition to FLCN mutations, we also observed mutations in CFTR (16.1%), LTBP4 (9.7%), TSC2 (9.7%), TSC1 (3.2%), ELN (3.2%), and SERPINA1 (3.2%). According to a systematic review of 45 South Korean patients with BHD, the prevalence of pneumothorax (72.7%) was greater in South Korea than in the rest of the world (50.9%; p = 0.003). The prevalence of skin manifestations (13.6%) and renal tumors (9.1%) was lower in Korea than in the rest of the world, at 47.9% [p < 0.001] and 22.5% [p = 0.027], respectively). This study confirmed a significant prediction model for BHD based on age, number of lung cysts (>40), and maximal diameter of lung cysts (>2 cm) regardless of skin manifestations and renal tumors. Importantly, three novel mutations (c.1098G>A, c.139G>T, and c.1336del) were identified. In conclusion, South Korean patients with BHD display characteristics that are different from those observed in patients of other nationalities. Detailed characterization of lung cysts is needed to define BHD, especially in South Korea, even if patients do not present with skin or renal lesions.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Thoracic and Cardiovascular Surgery (흉부외과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Sung Ryeol(김성렬) ORCID logo https://orcid.org/0000-0001-7418-0049
Kim, Song Yee(김송이) ORCID logo https://orcid.org/0000-0001-8627-486X
Kim, Tae-Hoon(김태훈) ORCID logo https://orcid.org/0000-0003-4200-3456
Moon, Duk Hwan(문덕환)
Park, Moo Suk(박무석) ORCID logo https://orcid.org/0000-0003-0820-7615
Park, Chul Hwan(박철환) ORCID logo https://orcid.org/0000-0002-0004-9475
Park, Hye Jung(박혜정) ORCID logo https://orcid.org/0000-0002-1862-1003
Byun, Min Kwang(변민광) ORCID logo https://orcid.org/0000-0003-1525-1745
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Sang Eun(이상은) ORCID logo https://orcid.org/0000-0003-4720-9955
Lee, Sung Soo(이성수) ORCID logo https://orcid.org/0000-0001-8998-9510
Lee, Su Hwan(이수환) ORCID logo https://orcid.org/0000-0002-3487-2574
Chang, Yoon Soo(장윤수) ORCID logo https://orcid.org/0000-0003-3340-4223
Jung, Ji Ye(정지예) ORCID logo https://orcid.org/0000-0003-1589-4142
Choi, Yong Jun(최용준) ORCID logo https://orcid.org/0000-0002-6114-2059
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