title: Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.
abstract: Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c.946-947delAG in exon 9 and c.770-772delCCT in exon 7). Both of them had RCC and spontaneous pneumothorax without fibrofolliculomas. In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts (pneumothorax).
authors.affiliation: Department of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
authors.forename: Teng
authors.initials: T
authors.lastname: Li
authors.affiliation: Department of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
authors.forename: Xianghui
authors.initials: X
authors.lastname: Ning
authors.affiliation: Department of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
authors.forename: Qun
authors.initials: Q
authors.lastname: He
authors.affiliation: Department of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China. gongkan_pku@126.com.
authors.forename: Kan
authors.initials: K
authors.lastname: Gong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D058249:Birt-Hogg-Dube Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D002681:China; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion; D015898:Tomography Scanners, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: Birt–Hogg–Dubé syndrome; Mutation; Renal cell carcinoma; The folliculin (FLCN) gene